Variant report

Variant	nsv1062220
Chromosome Location	chr17:15869557-16093156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3142)
CpG islands
(count:1650)
Chromatin interactive
region (count:166)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:3142 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:15869288-15870075	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:16074975-16075244	HepG2	liver:	n/a	n/a
3	ARID3A	chr17:15931068-15932170	K562	blood:	n/a	n/a
4	ARID3A	chr17:15901834-15902081	HepG2	liver:	n/a	n/a
5	ARID3A	chr17:15929429-15929620	K562	blood:	n/a	n/a
6	ARID3A	chr17:15942859-15943125	HepG2	liver:	n/a	n/a
7	ARID3A	chr17:15946193-15946249	HepG2	liver:	n/a	n/a
8	ARID3A	chr17:15917080-15917553	HepG2	liver:	n/a	n/a
9	ARID3A	chr17:15902481-15903240	HepG2	liver:	n/a	n/a
10	ARID3A	chr17:15902968-15903142	K562	blood:	n/a	n/a
11	ARID3A	chr17:15914877-15915353	HepG2	liver:	n/a	n/a
12	ARID3A	chr17:16009878-16010075	K562	blood:	n/a	n/a
13	ARID3A	chr17:15943987-15944643	HepG2	liver:	n/a	n/a
14	ARID3A	chr17:15885154-15885723	K562	blood:	n/a	n/a
15	ARID3A	chr17:15901668-15902127	K562	blood:	n/a	n/a
16	ATF1	chr17:16009815-16010155	K562	blood:	n/a	n/a
17	ATF1	chr17:15930958-15931807	K562	blood:	n/a	n/a
18	ATF1	chr17:15902769-15903231	K562	blood:	n/a	n/a
19	ATF1	chr17:15875851-15876087	K562	blood:	n/a	n/a
20	ATF1	chr17:15885244-15885573	K562	blood:	n/a	n/a
21	ATF2	chr17:15869467-15870240	H1-hESC	embryonic stem cell:	n/a	chr17:15869886-15869893
22	ATF2	chr17:15869409-15870334	H1-hESC	embryonic stem cell:	n/a	chr17:15869886-15869893
23	ATF2	chr17:15930985-15931892	GM12878	blood:	n/a	n/a
24	ATF2	chr17:15931264-15931818	GM12878	blood:	n/a	n/a
25	ATF2	chr17:15884411-15884928	GM12878	blood:	n/a	n/a
26	ATF2	chr17:15902507-15903189	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr17:15884539-15884890	GM12878	blood:	n/a	n/a
28	ATF2	chr17:15902636-15903255	H1-hESC	embryonic stem cell:	n/a	n/a
29	ATF2	chr17:15902715-15903257	GM12878	blood:	n/a	n/a
30	ATF3	chr17:15902763-15903342	A549	lung:	n/a	chr17:15902790-15902799
31	ATF3	chr17:15902819-15903127	K562	blood:	n/a	n/a
32	ATF3	chr17:15931346-15931800	K562	blood:	n/a	n/a
33	ATF3	chr17:15902730-15903281	A549	lung:	n/a	chr17:15902790-15902799
34	BACH1	chr17:15973666-15973854	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr17:15995089-15995466	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr17:15885110-15885621	H1-hESC	embryonic stem cell:	n/a	chr17:15885331-15885345
37	BACH1	chr17:15885175-15885548	K562	blood:	n/a	chr17:15885331-15885345
38	BACH1	chr17:15902645-15903078	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr17:15869603-15870225	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr17:15995090-15995456	K562	blood:	n/a	n/a
41	BACH1	chr17:15924260-15924267	K562	blood:	n/a	n/a
42	BATF	chr17:15990257-15990528	GM12878	blood:	n/a	n/a
43	BATF	chr17:15904612-15904828	GM12878	blood:	n/a	chr17:15904756-15904767 chr17:15904700-15904711 chr17:15904723-15904734
44	BATF	chr17:16070087-16070406	GM12878	blood:	n/a	n/a
45	BATF	chr17:15884479-15884852	GM12878	blood:	n/a	n/a
46	BATF	chr17:15931441-15931778	GM12878	blood:	n/a	chr17:15931582-15931593 chr17:15931624-15931635
47	BATF	chr17:15931410-15931855	GM12878	blood:	n/a	chr17:15931582-15931593 chr17:15931624-15931635
48	BATF	chr17:16070087-16070463	GM12878	blood:	n/a	n/a
49	BCL11A	chr17:15884558-15884812	GM12878	blood:	n/a	n/a
50	BCL11A	chr17:15884533-15884893	GM12878	blood:	n/a	n/a

(count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15947312-15947362	NHDF-neo	bronchial:	n/a
2	chr17:15899410-15899460	HL-60	blood:	n/a
3	chr17:15903687-15903737	HPAEpiC	pulmonary alveolar:	n/a
4	chr17:15947312-15947362	NHDF-neo	bronchial:	n/a
5	chr17:15899410-15899460	HL-60	blood:	n/a
6	chr17:15903687-15903737	HPAEpiC	pulmonary alveolar:	n/a
7	chr17:15970327-15970377	U87	brain:	n/a
8	chr17:16049075-16049125	HRCEpiC	kidney:	n/a
9	chr17:15947312-15947362	GM19239	blood:	n/a
10	chr17:15902795-15902845	K562	blood:	n/a
11	chr17:15931082-15931132	HepG2	liver:	n/a
12	chr17:15902633-15902683	SK-N-SH_RA	brain:	n/a
13	chr17:15902633-15902683	NHDF-neo	bronchial:	n/a
14	chr17:15902795-15902845	HRCEpiC	kidney:	n/a
15	chr17:15902795-15902845	HCM	heart:	n/a
16	chr17:15885326-15885376	U87	brain:	n/a
17	chr17:15947312-15947362	NHBE	bronchial:	n/a
18	chr17:15885326-15885376	GM12891	blood:	n/a
19	chr17:16049075-16049125	AG04449	skin:	fetal
20	chr17:15902837-15902887	T-47D	breast:	n/a
21	chr17:15902837-15902887	HCF	heart:	n/a
22	chr17:15947312-15947362	H1-hESC	embryonic stem cell:	embryo
23	chr17:15903096-15903146	Hepatocyte	liver:	n/a
24	chr17:15902633-15902683	HPAEpiC	pulmonary alveolar:	n/a
25	chr17:16049075-16049125	AG09309	skin:	n/a
26	chr17:15869607-15869657	HCPEpiC	choroid plexus:	n/a
27	chr17:15902795-15902845	HRPEpiC	eye:	n/a
28	chr17:15903290-15903340	ProgFib	skin:	n/a
29	chr17:15903687-15903737	BJ	skin:	n/a
30	chr17:15947312-15947362	LNCaP	prostate:	n/a
31	chr17:15902560-15902610	HRPEpiC	eye:	n/a
32	chr17:15970327-15970377	HRE	kidney:	n/a
33	chr17:15902633-15902683	AG10803	skin:	n/a
34	chr17:15869607-15869657	ProgFib	skin:	n/a
35	chr17:16049075-16049125	RPTEC	kidney:	n/a
36	chr17:15878667-15878717	HNPCEpiC	eye:	n/a
37	chr17:15880379-15880429	HepG2	liver:	n/a
38	chr17:15902501-15902551	HRPEpiC	eye:	n/a
39	chr17:15903739-15903789	MCF10A-Er-Src	breast:	n/a
40	chr17:15901788-15901838	SAEC	small airway:	n/a
41	chr17:15869607-15869657	PANC-1	pancreas:	n/a
42	chr17:15902660-15902710	GM19239	blood:	n/a
43	chr17:15869607-15869657	HCT-116	colon:	n/a
44	chr17:15902660-15902710	HCT-116	colon:	n/a
45	chr17:15880379-15880429	AG04450	lung:	fetal
46	chr17:15902560-15902610	Hela-S3	cervix:	n/a
47	chr17:15902560-15902610	GM06990	blood:	n/a
48	chr17:16049075-16049125	AG10803	skin:	n/a
49	chr17:15902952-15903002	Jurkat	blood:	n/a
50	chr17:15902560-15902610	Jurkat	blood:	n/a

(count:166 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr17:15941280..15942886-chr17:15944806..15947115,2	MCF-7	breast:
2	chr17:15901763..15905062-chr17:16117309..16121912,5	MCF-7	breast:
3	chr17:15910738..15912780-chr17:15917922..15919655,2	K562	blood:
4	chr14:103851233..103852207-chr17:15902803..15903546,2	Hela-S3	cervix:
5	chr17:15976524..15978868-chr17:15991864..15993766,2	K562	blood:
6	chr17:15876176..15878196-chr17:15903917..15906445,2	K562	blood:
7	chr17:16085958..16087608-chr17:16095092..16097243,2	MCF-7	breast:
8	chr17:15869541..15871982-chr17:15871991..15874515,2	K562	blood:
9	chr17:15869541..15871982-chr17:15871991..15874515,2	K562	blood:
10	chr17:15925841..15927896-chr17:15930022..15931528,2	K562	blood:
11	chr17:15963401..15966357-chr17:16012433..16014400,2	K562	blood:
12	chr17:15872821..15874890-chr17:15887879..15890256,2	K562	blood:
13	chr17:15962217..15964355-chr17:15964514..15967478,2	K562	blood:
14	chr17:15861872..15863395-chr17:15873905..15875556,2	K562	blood:
15	chr17:16052098..16053790-chr17:16057449..16059169,2	K562	blood:
16	chr17:15732199..15732717-chr17:15901816..15902443,2	K562	blood:
17	chr17:15926396..15928188-chr17:15929360..15931528,3	K562	blood:
18	chr17:16032848..16034524-chr17:16038986..16041500,2	K562	blood:
19	chr17:15860952..15862454-chr17:15899696..15901427,2	K562	blood:
20	chr17:15553526..15556124-chr17:15902249..15904435,2	MCF-7	breast:
21	chr17:15902395..15902947-chrX:46404691..46405453,2	Hela-S3	cervix:
22	chr17:16044141..16046370-chr17:16053985..16055741,2	K562	blood:
23	chr17:15874041..15877357-chr17:15878347..15881339,3	K562	blood:
24	chr17:15884378..15885886-chr17:15892555..15894093,2	K562	blood:
25	chr17:15917993..15922048-chr17:15928334..15931723,4	MCF-7	breast:
26	chr17:15904178..15905978-chr17:15910048..15912649,2	K562	blood:
27	chr17:16019669..16022129-chr17:16022606..16024865,2	K562	blood:
28	chr17:15901579..15902443-chr17:74732789..74733488,2	NB4	blood:
29	chr17:16072733..16074732-chr17:16076435..16078700,2	MCF-7	breast:
30	chr17:15904178..15905978-chr17:15910048..15912649,2	K562	blood:
31	chr17:15910738..15912780-chr17:15917922..15919655,2	K562	blood:
32	chr17:15931616..15933917-chr17:15935615..15938072,3	K562	blood:
33	chr17:16018918..16021715-chr17:16028326..16030856,2	K562	blood:
34	chr17:16050219..16053553-chr17:16118923..16122033,3	MCF-7	breast:
35	chr17:16039156..16040813-chr17:16042197..16044363,3	MCF-7	breast:
36	chr17:15861172..15863617-chr17:15879746..15882543,3	K562	blood:
37	chr17:15972800..15974994-chr17:15979206..15981179,2	MCF-7	breast:
38	chr17:15866407..15869569-chr17:15884863..15887251,3	K562	blood:
39	chr17:16056755..16059055-chr17:16074181..16076719,2	MCF-7	breast:
40	chr17:15976524..15978868-chr17:15991864..15993766,2	K562	blood:
41	chr17:15553842..15556755-chr17:15901183..15904132,3	MCF-7	breast:
42	chr17:16019117..16021633-chr17:16117621..16119392,2	MCF-7	breast:
43	chr17:15902307..15904348-chr17:15929273..15931629,2	K562	blood:
44	chr17:16060434..16062194-chr17:16065832..16068470,2	K562	blood:
45	chr17:15987048..15989365-chr17:16117375..16120147,2	MCF-7	breast:
46	chr17:15847910..15848845-chr17:15901471..15902383,2	MCF-7	breast:
47	chr17:15903003..15903658-chr3:58419013..58419568,2	Hela-S3	cervix:
48	chr1:201979391..201980146-chr17:15902285..15903134,2	HCT-116	colon:
49	chr17:15903246..15906052-chr17:15922157..15923827,2	K562	blood:
50	chr17:15905164..15907778-chr17:15930822..15933599,2	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM7-2	chr17:15883557-15883681	NONHSAT145880
2	lnc-ZSWIM7-2	chr17:15879883-15880406	NONHSAT145880
3	lnc-ZSWIM7-1	chr17:15949364-15949795	NONHSAT145888
4	lnc-ZSWIM7-2	chr17:15881358-15881477	NONHSAT145880
5	lnc-ZSWIM7-4	chr17:15947766-15948163	NONHSAT145886
6	lnc-TTC19-1	chr17:15987356-15987695	NONHSAT145891
7	lnc-ADORA2B-1	chr17:15884512-15885318	predAs_engstrom06_BC031588_1
8	lnc-ZSWIM7-1	chr17:15949376-15949795	ENSG00000248550
9	lnc-ZSWIM7-6	chr17:15961221-15961249	NONHSAT145890
10	lnc-AC002553.1-2	chr17:15947935-15948275	NONHSAT145887
11	lnc-ZSWIM7-1	chr17:15948896-15948923	NONHSAT145888
12	lnc-AC002553.1-1	chr17:15943786-15944587	NONHSAT145885
13	lnc-ZSWIM7-6	chr17:15960288-15961051	NONHSAT145890
14	lnc-ZSWIM7-2	chr17:15880893-15881227	NONHSAT145880
15	lnc-ZSWIM7-4	chr17:15948169-15948278	NONHSAT145886

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ADORA2B	hsa-miR-27b-3p	chr17:15878973-15878980
2	NCOR1	hsa-let-7b-5p	chr17:15934835-15934829
3	ADORA2B	hsa-miR-27b-3p	chr17:15878960-15878980
4	TTC19	hsa-miR-30c-5p	chr17:15930416-15930438

Variant related genes	Relation type
RN7SL442P	TF binding region
ADORA2B	TF binding region
RNU6-314P	TF binding region
TTC19	TF binding region
RNU6-862P	TF binding region
NCOR1	TF binding region
ENSG00000233979	TF binding region
ENSG00000227782	TF binding region
ZSWIM7	TF binding region
RPLP1P11	TF binding region
RN7SL442P	CpG island
ADORA2B	CpG island
RNU6-314P	CpG island
TTC19	CpG island
RNU6-862P	CpG island
NCOR1	CpG island
ENSG00000233979	CpG island
ENSG00000227782	CpG island
ZSWIM7	CpG island
RPLP1P11	CpG island
ENSG00000163166	chromatin interactions
ENSG00000175061	chromatin interactions
ENSG00000227790	chromatin interactions
ENSG00000251537	chromatin interactions
ENSG00000092931	chromatin interactions
ENSG00000011295	chromatin interactions
ENSG00000230844	chromatin interactions
ENSG00000266261	chromatin interactions
ENSG00000243686	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000163435	chromatin interactions
ENSG00000199674	chromatin interactions
ENSG00000126653	chromatin interactions
ENSG00000161547	chromatin interactions
ENSG00000112081	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000108474	chromatin interactions
ENSG00000199071	chromatin interactions
ENSG00000214941	chromatin interactions
ENSG00000144711	chromatin interactions
ENSG00000149547	chromatin interactions
ENSG00000075413	chromatin interactions
ENSG00000239221	chromatin interactions
ENSG00000234678	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000252383	chromatin interactions
ENSG00000227782	chromatin interactions
ENSG00000168291	chromatin interactions
ENSG00000170425	chromatin interactions
ENSG00000141027	chromatin interactions
ENSG00000144895	chromatin interactions
ENSG00000150456	chromatin interactions
ENSG00000251192	chromatin interactions
BDH2	miRNA target sites

Extended variants
information (count: 8940 )
Associated
traits (count: 179 )

Variant overlapped rSNPs/rCNVs (count:8940 , 50 per page) page: 1 2 3 4 5 6 7 ... 179

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17715109	chr17:15869557-15869558	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557235326	chr17:15869567-15869568	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73276041	chr17:15869629-15869630	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs185818024	chr17:15869643-15869644	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs553546982	chr17:15869710-15869711	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs189840352	chr17:15869776-15869777	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs541887453	chr17:15869784-15869785	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs555755130	chr17:15869795-15869796	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs574610989	chr17:15869816-15869817	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs560291176	chr17:15869845-15869846	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs543709577	chr17:15869855-15869856	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs563095523	chr17:15869866-15869867	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs532218948	chr17:15869871-15869872	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs369147287	chr17:15869885-15869886	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs545484033	chr17:15869914-15869915	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs559054407	chr17:15869917-15869918	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs570623444	chr17:15869932-15869933	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs528065352	chr17:15869934-15869935	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs138106339	chr17:15870010-15870011	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182454761	chr17:15870155-15870156	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76388822	chr17:15870167-15870168	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576628277	chr17:15870184-15870185	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536171541	chr17:15870226-15870227	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs372053960	chr17:15870236-15870237	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs551307072	chr17:15870251-15870252	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs187017050	chr17:15870276-15870277	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs142436632	chr17:15870313-15870314	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs368969704	chr17:15870345-15870346	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs553483392	chr17:15870395-15870396	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs2779207	chr17:15870401-15870402	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs535961154	chr17:15870450-15870451	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112269214	chr17:15870503-15870504	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570632774	chr17:15870546-15870547	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376366153	chr17:15870573-15870574	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10556115	chr17:15870609-15870610	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142648690	chr17:15870613-15870614	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201016186	chr17:15870614-15870615	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141603686	chr17:15870615-15870616	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142706953	chr17:15870616-15870617	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543347731	chr17:15870620-15870621	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553854695	chr17:15870679-15870680	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192308986	chr17:15870703-15870704	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576610758	chr17:15870705-15870706	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369926356	chr17:15870708-15870709	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111482633	chr17:15870735-15870736	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545619333	chr17:15870763-15870764	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559140480	chr17:15870764-15870765	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528137523	chr17:15870771-15870772	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7217602	chr17:15870796-15870797	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561527091	chr17:15870835-15870836	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:179)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Multiple myeloma	16616336	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD

Chromatin state (count:7682 , 50 per page) page: 1 2 3 4 5 6 7 ... 154

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15851200-15869600	Weak transcription	Gastric	stomach
2	chr17:15855800-15869800	Weak transcription	Fetal Intestine Small	intestine
3	chr17:15862400-15869800	Weak transcription	Spleen	Spleen
4	chr17:15862600-15869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr17:15863400-15869800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:15866200-15869800	Enhancers	HMEC	breast
7	chr17:15866400-15871800	Enhancers	NH-A	brain
8	chr17:15866600-15871200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:15867400-15869600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:15867400-15869600	Weak transcription	NHLF	lung
11	chr17:15867400-15878000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:15867600-15869600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:15867600-15869800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:15868200-15869600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr17:15868200-15870200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:15868200-15870200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:15868200-15870400	Enhancers	A549	lung
18	chr17:15868200-15870400	Enhancers	Osteobl	bone
19	chr17:15868400-15869600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:15868400-15869600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr17:15868400-15869800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr17:15868400-15869800	Enhancers	HUVEC	blood vessel
23	chr17:15868400-15870000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr17:15868400-15870000	Enhancers	Thymus	Thymus
25	chr17:15868400-15870600	Enhancers	HSMM	muscle
26	chr17:15868400-15871400	Enhancers	Hela-S3	cervix
27	chr17:15868400-15871400	Enhancers	NHDF-Ad	bronchial
28	chr17:15868400-15871600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr17:15868600-15869600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:15868600-15869600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr17:15868600-15869600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr17:15868600-15869800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr17:15868600-15869800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:15868600-15870000	Enhancers	Brain Anterior Caudate	brain
35	chr17:15868600-15870000	Enhancers	Brain Germinal Matrix	brain
36	chr17:15868600-15870200	Enhancers	Fetal Heart	heart
37	chr17:15868600-15870400	Enhancers	Fetal Lung	lung
38	chr17:15868600-15870400	Enhancers	HSMMtube	muscle
39	chr17:15868600-15870600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:15868600-15870600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr17:15868600-15870600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:15868600-15870800	Enhancers	Esophagus	oesophagus
43	chr17:15868600-15871200	Enhancers	Fetal Thymus	thymus
44	chr17:15868600-15871400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr17:15868600-15871600	Enhancers	Dnd41	blood
46	chr17:15868600-15871800	Enhancers	Primary hematopoietic stem cells	blood
47	chr17:15868600-15872000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:15868600-15872000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr17:15868600-15872200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr17:15868600-15872400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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