Variant report

Variant	nsv1001587
Chromosome Location	chr1:95027691-95318680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4281)
CpG islands
(count:2869)
Chromatin interactive
region (count:102)
LncRNA
region (count:92)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:4281 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:95134884-95134905	K562	blood:	n/a	n/a
2	ARID3A	chr1:95163278-95164990	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:95100612-95100993	K562	blood:	n/a	n/a
4	ARID3A	chr1:95273730-95274023	K562	blood:	n/a	n/a
5	ARID3A	chr1:95045656-95045854	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:95201354-95201427	K562	blood:	n/a	n/a
7	ARID3A	chr1:95179164-95179662	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:95113761-95114156	K562	blood:	n/a	n/a
9	ARID3A	chr1:95273685-95274031	HepG2	liver:	n/a	n/a
10	ARID3A	chr1:95224759-95225180	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:95269022-95269833	HepG2	liver:	n/a	n/a
12	ARID3A	chr1:95239668-95239865	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:95263194-95263361	HepG2	liver:	n/a	chr1:95263261-95263277
14	ARID3A	chr1:95258541-95259146	HepG2	liver:	n/a	n/a
15	ARID3A	chr1:95192673-95192711	HepG2	liver:	n/a	n/a
16	ARID3A	chr1:95286999-95287507	HepG2	liver:	n/a	n/a
17	ARID3A	chr1:95202141-95202374	HepG2	liver:	n/a	n/a
18	ARID3A	chr1:95263635-95264016	HepG2	liver:	n/a	n/a
19	ARID3A	chr1:95221173-95221592	HepG2	liver:	n/a	n/a
20	ARID3A	chr1:95267528-95267789	HepG2	liver:	n/a	n/a
21	ATF1	chr1:95201274-95201584	K562	blood:	n/a	n/a
22	ATF1	chr1:95113791-95114082	K562	blood:	n/a	n/a
23	ATF1	chr1:95100599-95100815	K562	blood:	n/a	n/a
24	ATF1	chr1:95273676-95273986	K562	blood:	n/a	n/a
25	ATF1	chr1:95267736-95267770	K562	blood:	n/a	n/a
26	ATF2	chr1:95186774-95187202	GM12878	blood:	n/a	n/a
27	ATF2	chr1:95154249-95154715	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr1:95185839-95186400	GM12878	blood:	n/a	n/a
29	ATF2	chr1:95257958-95258479	GM12878	blood:	n/a	n/a
30	ATF2	chr1:95154094-95154593	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr1:95126491-95127014	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr1:95186678-95187285	GM12878	blood:	n/a	n/a
33	ATF2	chr1:95258105-95258534	GM12878	blood:	n/a	n/a
34	ATF3	chr1:95123440-95123857	HCT-116	colon:	n/a	n/a
35	ATF3	chr1:95100495-95100857	K562	blood:	n/a	n/a
36	ATF3	chr1:95113756-95114048	K562	blood:	n/a	n/a
37	ATF3	chr1:95200495-95200675	K562	blood:	n/a	n/a
38	ATF3	chr1:95143325-95143609	K562	blood:	n/a	n/a
39	ATF3	chr1:95113833-95114007	K562	blood:	n/a	n/a
40	ATF3	chr1:95123472-95123678	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr1:95111892-95111966	K562	blood:	n/a	n/a
42	BACH1	chr1:95221244-95221625	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr1:95221248-95221599	K562	blood:	n/a	n/a
44	BACH1	chr1:95292752-95292766	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr1:95046483-95046614	K562	blood:	n/a	n/a
46	BACH1	chr1:95068522-95068525	H1-hESC	embryonic stem cell:	n/a	n/a
47	BACH1	chr1:95045344-95045736	H1-hESC	embryonic stem cell:	n/a	n/a
48	BATF	chr1:95186813-95187117	GM12878	blood:	n/a	n/a
49	BATF	chr1:95185860-95186289	GM12878	blood:	n/a	n/a
50	BCL11A	chr1:95186839-95187098	GM12878	blood:	n/a	n/a

(count:2869 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95313200-95313250	BJ	skin:	n/a
2	chr1:95249289-95249339	GM12891	blood:	n/a
3	chr1:95313200-95313250	BJ	skin:	n/a
4	chr1:95249289-95249339	GM12891	blood:	n/a
5	chr1:95056619-95056669	PFSK-1	brain:	n/a
6	chr1:95268325-95268375	SKMC	muscle:	n/a
7	chr1:95285888-95285938	AG09319	gingival:	n/a
8	chr1:95268325-95268375	A549	lung:	n/a
9	chr1:95286311-95286361	BE2_C	brain:	n/a
10	chr1:95191578-95191628	HRE	kidney:	n/a
11	chr1:95285405-95285455	SK-N-MC	brain:	n/a
12	chr1:95285809-95285859	NHBE	bronchial:	n/a
13	chr1:95201495-95201545	HEK293	kidney:	embryo
14	chr1:95173050-95173100	HNPCEpiC	eye:	n/a
15	chr1:95082321-95082371	GM19239	blood:	n/a
16	chr1:95155557-95155607	IMR90	lung:	fetal
17	chr1:95268325-95268375	LNCaP	prostate:	n/a
18	chr1:95258162-95258212	Hela-S3	cervix:	n/a
19	chr1:95285405-95285455	ovcar-3	ovarian:	n/a
20	chr1:95163986-95164036	HEK293	kidney:	embryo
21	chr1:95088560-95088610	RPTEC	kidney:	n/a
22	chr1:95045763-95045813	NH-A	brain:	n/a
23	chr1:95258162-95258212	ovcar-3	ovarian:	n/a
24	chr1:95285603-95285653	HCPEpiC	choroid plexus:	n/a
25	chr1:95313200-95313250	H1-hESC	embryonic stem cell:	embryo
26	chr1:95285450-95285500	CMK	blood:	n/a
27	chr1:95287127-95287177	GM12892	blood:	n/a
28	chr1:95220838-95220888	H1-hESC	embryonic stem cell:	embryo
29	chr1:95133907-95133957	Hela-S3	cervix:	n/a
30	chr1:95061616-95061666	HIPEpiC	eye:	n/a
31	chr1:95285450-95285500	SAEC	small airway:	n/a
32	chr1:95095221-95095271	AG04450	lung:	fetal
33	chr1:95285780-95285830	HRE	kidney:	n/a
34	chr1:95287127-95287177	AG09319	gingival:	n/a
35	chr1:95268325-95268375	NHDF-neo	bronchial:	n/a
36	chr1:95285780-95285830	HCT-116	colon:	n/a
37	chr1:95285780-95285830	GM12891	blood:	n/a
38	chr1:95285252-95285302	RPTEC	kidney:	n/a
39	chr1:95080047-95080097	ProgFib	skin:	n/a
40	chr1:95285349-95285399	GM19239	blood:	n/a
41	chr1:95095221-95095271	PANC-1	pancreas:	n/a
42	chr1:95285809-95285859	PANC-1	pancreas:	n/a
43	chr1:95249289-95249339	T-47D	breast:	n/a
44	chr1:95287127-95287177	U87	brain:	n/a
45	chr1:95082321-95082371	HL-60	blood:	n/a
46	chr1:95238920-95238970	K562	blood:	n/a
47	chr1:95285531-95285581	SK-N-MC	brain:	n/a
48	chr1:95167783-95167833	Caco-2	colon:	n/a
49	chr1:95089526-95089576	HCF	heart:	n/a
50	chr1:95095221-95095271	GM19239	blood:	n/a

(count:102 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:95064700..95065302-chr1:95267166..95268188,3	MCF-7	breast:
2	chr1:95067748..95070486-chr1:95070993..95073979,4	K562	blood:
3	chr1:95236740..95239780-chr1:95240138..95243352,4	K562	blood:
4	chr1:95236284..95239161-chr1:95266058..95267652,2	MCF-7	breast:
5	chr1:95312372..95315721-chr1:95315811..95319353,4	K562	blood:
6	chr1:95083696..95086099-chr1:95111956..95113779,2	MCF-7	breast:
7	chr1:95312372..95315721-chr1:95315811..95319353,4	K562	blood:
8	chr1:94987984..94988512-chr1:95267242..95268185,2	MCF-7	breast:
9	chr1:95116283..95118037-chr1:95153158..95155389,2	K562	blood:
10	chr1:95068045..95070486-chr1:95071108..95072675,2	K562	blood:
11	chr1:95201160..95203046-chr1:95205900..95207737,2	K562	blood:
12	chr1:95168507..95171353-chr1:95175689..95177754,2	K562	blood:
13	chr1:95104382..95108045-chr1:95108728..95112831,4	K562	blood:
14	chr1:95043796..95046691-chr1:95048870..95051582,2	K562	blood:
15	chr1:95266803..95269335-chr1:95269507..95271398,2	MCF-7	breast:
16	chr1:95168507..95171353-chr1:95175689..95177754,2	K562	blood:
17	chr1:95266803..95269335-chr1:95269507..95271398,2	MCF-7	breast:
18	chr1:95187400..95190207-chr1:95191116..95193484,2	MCF-7	breast:
19	chr1:95068045..95070486-chr1:95071108..95072675,2	K562	blood:
20	chr1:95317605..95318348-chr1:95507244..95507950,2	MCF-7	breast:
21	chr1:95098692..95101011-chr1:95110470..95114437,3	K562	blood:
22	chr1:95135759..95138517-chr1:95142176..95146453,3	K562	blood:
23	chr1:95236740..95239780-chr1:95240138..95243352,4	K562	blood:
24	chr1:95098692..95101011-chr1:95110470..95114437,3	K562	blood:
25	chr1:95307149..95310115-chr1:95312467..95314345,2	K562	blood:
26	chr1:95187400..95190207-chr1:95191116..95193484,2	MCF-7	breast:
27	chr1:95075515..95077960-chr1:95084097..95086216,2	K562	blood:
28	chr1:95233912..95236157-chr1:95236428..95238562,2	MCF-7	breast:
29	chr1:95285533..95286202-chr19:344242..345013,2	HCT-116	colon:
30	chr1:95239555..95242500-chr1:95242602..95244324,2	MCF-7	breast:
31	chr1:95115535..95119175-chr1:95123580..95126438,3	K562	blood:
32	chr1:94992707..94993493-chr1:95064769..95065395,2	MCF-7	breast:
33	chr1:95064700..95065302-chr1:95267166..95268188,3	MCF-7	breast:
34	chr1:95043796..95046993-chr1:95048870..95051582,3	K562	blood:
35	chr1:95239553..95241995-chr1:95245033..95246772,2	K562	blood:
36	chr1:95043796..95046993-chr1:95048870..95051582,3	K562	blood:
37	chr1:95145448..95146125-chr1:113615023..113615898,2	K562	blood:
38	chr1:95158375..95159264-chr1:95267288..95268011,2	MCF-7	breast:
39	chr1:95134967..95137782-chr1:95144953..95147356,2	K562	blood:
40	chr1:95174355..95177199-chr1:95178886..95181211,2	K562	blood:
41	chr1:95002334..95004389-chr1:95062847..95065293,3	MCF-7	breast:
42	chr1:95219225..95221753-chr1:95222349..95224941,2	MCF-7	breast:
43	chr1:95080479..95082832-chr1:95086788..95088378,2	K562	blood:
44	chr1:94946734..94948200-chr1:95271052..95271779,5	K562	blood:
45	chr1:95083696..95086099-chr1:95111956..95113779,2	MCF-7	breast:
46	chr1:95276233..95280832-chr1:95282185..95286731,5	MCF-7	breast:
47	chr1:95174355..95177199-chr1:95178886..95181211,2	K562	blood:
48	chr1:95044965..95045519-chr1:95065172..95065776,2	MCF-7	breast:
49	chr1:95177526..95179943-chr1:95182751..95185160,2	K562	blood:
50	chr1:95043796..95046691-chr1:95048870..95051582,2	K562	blood:

(count:92 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNN3-3	chr1:95170995-95171113	ENSG00000224081.2
2	lnc-F3-4	chr1:95116100-95116934	NONHSAT004604
3	lnc-F3-2	chr1:95145136-95145163	ENSG00000224081.3
4	lnc-F3-2	chr1:95088275-95088440	XLOC_000922
5	lnc-F3-2	chr1:95144981-95145163	NONHSAT004608
6	lnc-F3-2	chr1:95081953-95082627	XLOC_000922
7	lnc-F3-2	chr1:95197814-95198114	NONHSAT004608
8	lnc-F3-2	chr1:95207825-95207970	ENSG00000224081.3
9	lnc-CNN3-3	chr1:95285512-95285766	ENSG00000224081.2
10	lnc-SLC44A3-3	chr1:95170016-95170129	refGeneNc_4335_NR_033998
11	lnc-F3-2	chr1:95101565-95101980	NONHSAT004602
12	lnc-CNN3-3	chr1:95138685-95138827	ENSG00000224081.2
13	lnc-F3-2	chr1:95082006-95082627	NONHSAT004599
14	lnc-F3-1	chr1:95056890-95057853	XLOC_000921
15	lnc-F3-2	chr1:95181138-95181467	NONHSAT004613
16	lnc-CNN3-3	chr1:95207825-95208051	ENSG00000224081.2
17	lnc-SLC44A3-2	chr1:95143554-95143579	XLOC_000303
18	lnc-F3-1	chr1:95051112-95052318	XLOC_000921
19	lnc-F3-2	chr1:95220694-95221480	NONHSAT004613
20	lnc-F3-2	chr1:95144981-95145163	NONHSAT004609
21	lnc-CNN3-3	chr1:95285512-95285837	ENSG00000224081.2
22	lnc-SLC44A3-2	chr1:95149856-95150619	XLOC_000303
23	lnc-F3-2	chr1:95138492-95138827	NONHSAT004608
24	lnc-F3-2	chr1:95144981-95145163	NONHSAT004613
25	lnc-SLC44A3-3	chr1:95199461-95199577	refGeneNc_4335_NR_033998
26	lnc-SLC44A3-2	chr1:95153449-95153875	XLOC_000303
27	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
28	lnc-CNN3-3	chr1:95197689-95197993	ENSG00000224081.2
29	lnc-F3-2	chr1:95099361-95099428	NONHSAT004602
30	lnc-F3-2	chr1:95086187-95086543	XLOC_000922
31	lnc-F3-2	chr1:95170995-95171095	NONHSAT004607
32	lnc-F3-2	chr1:95209394-95209549	ENSG00000224081.3
33	lnc-F3-3	chr1:95058100-95058233	l_89_chr1:94917575-94970548_76bGuttman_hLF
34	lnc-F3-2	chr1:95088565-95088595	NONHSAT004597
35	lnc-F3-2	chr1:95081924-95082321	NONHSAT004597
36	lnc-F3-2	chr1:95103992-95104114	NONHSAT004602
37	lnc-F3-2	chr1:95082302-95082627	XLOC_000922
38	lnc-CNN3-1	chr1:95308912-95309150	ENSG00000237416.2
39	lnc-F3-2	chr1:95088275-95089740	XLOC_000922
40	lnc-CNN3-1	chr1:95302304-95302459	ENSG00000237416.2
41	lnc-SLC44A3-2	chr1:95149016-95149176	XLOC_000303
42	lnc-F3-2	chr1:95180324-95180858	NONHSAT004613
43	lnc-F3-2	chr1:95103261-95103386	NONHSAT004602
44	lnc-CNN3-1	chr1:95308664-95309150	ENSG00000237416.2
45	lnc-CNN3-3	chr1:95197814-95197901	ENSG00000224081.2
46	lnc-F3-2	chr1:95230717-95230794	NONHSAT004613
47	lnc-CNN3-3	chr1:95285512-95285652	ENSG00000224081.2
48	lnc-CNN3-1	chr1:95304479-95304597	ENSG00000237416.2
49	lnc-CNN3-3	chr1:95209394-95209549	ENSG00000224081.2
50	lnc-F3-2	chr1:95138492-95138827	NONHSAT004609

miRNA name	Chromosome Location	mirBase accession
hsa-miR-378g	chr1:95211436-95211455	MIMAT0018937

No data

Variant related genes	Relation type
KATNBL1P2	TF binding region
LINC01057	TF binding region
PGBD4P7	TF binding region
ENSG00000223675	TF binding region
SLC44A3	TF binding region
MIR378G	TF binding region
ENSG00000235565	TF binding region
KATNBL1P2	CpG island
LINC01057	CpG island
PGBD4P7	CpG island
ENSG00000223675	CpG island
SLC44A3	CpG island
MIR378G	CpG island
ENSG00000235565	CpG island
ENSG00000238198	chromatin interactions
ENSG00000235565	chromatin interactions
ENSG00000224081	chromatin interactions
ENSG00000117528	chromatin interactions
ENSG00000143036	chromatin interactions
ENSG00000198799	chromatin interactions
ENSG00000244433	chromatin interactions
ENSG00000232857	chromatin interactions
ENSG00000117525	chromatin interactions
ENSG00000105556	chromatin interactions
FUBP3	miRNA target sites
FUNDC2	miRNA target sites
FXC1	miRNA target sites
SPTLC1	miRNA target sites
FUBP1	miRNA target sites
FURIN	miRNA target sites

Extended variants
information (count: 11689 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:11689 , 50 per page) page: 1 2 3 4 5 6 7 ... 234

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549211346	chr1:95027716-95027717	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs543687008	chr1:95027744-95027745	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs74805234	chr1:95027751-95027752	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs575915455	chr1:95027880-95027881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186273760	chr1:95027942-95027943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534515360	chr1:95027946-95027947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141268690	chr1:95027954-95027955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2794479	chr1:95027965-95027966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2022033	chr1:95028009-95028010	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561039674	chr1:95028087-95028088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138792266	chr1:95028088-95028089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2022032	chr1:95028119-95028120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2022031	chr1:95028133-95028134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538607473	chr1:95028206-95028207	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs149385435	chr1:95028219-95028220	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs371526701	chr1:95028256-95028257	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs11165159	chr1:95028278-95028279	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534778922	chr1:95028286-95028287	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554770784	chr1:95028295-95028296	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs574664346	chr1:95028316-95028317	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs537366564	chr1:95028323-95028324	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs370854429	chr1:95028345-95028346	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs1146511	chr1:95028357-95028358	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs575994305	chr1:95028362-95028363	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs146301317	chr1:95028372-95028373	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs12125055	chr1:95028390-95028391	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs76023645	chr1:95028405-95028406	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs17365315	chr1:95028444-95028445	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373264308	chr1:95028453-95028454	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs374734046	chr1:95028486-95028487	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs139560486	chr1:95028491-95028492	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs143019456	chr1:95028497-95028498	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs190140961	chr1:95028514-95028515	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs574377206	chr1:95028519-95028520	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs543499240	chr1:95028529-95028530	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs532429604	chr1:95028534-95028535	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs11165160	chr1:95028535-95028536	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs181301349	chr1:95028548-95028549	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs565715457	chr1:95028615-95028616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs185118389	chr1:95028616-95028617	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190023126	chr1:95028625-95028626	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs77895573	chr1:95028659-95028660	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs183815690	chr1:95028660-95028661	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs537204318	chr1:95028678-95028679	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs1245216	chr1:95028679-95028680	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146154815	chr1:95028690-95028691	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs7524546	chr1:95028736-95028737	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs189192839	chr1:95028756-95028757	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs140563473	chr1:95028768-95028769	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572032940	chr1:95028769-95028770	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:5702 , 50 per page) page: 1 2 3 4 5 6 7 ... 115

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95019000-95028200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:95019000-95028200	Weak transcription	Pancreas	Pancrea
3	chr1:95020400-95028200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:95020600-95028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:95025800-95028400	Weak transcription	Esophagus	oesophagus
6	chr1:95026000-95028000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:95026000-95028000	Weak transcription	Fetal Intestine Large	intestine
8	chr1:95026000-95028000	Weak transcription	HSMMtube	muscle
9	chr1:95026000-95028200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:95026200-95028200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:95026200-95028200	Weak transcription	Hela-S3	cervix
12	chr1:95027000-95027800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:95027000-95029000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:95027200-95028200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:95027400-95028200	Enhancers	HepG2	liver
16	chr1:95027600-95028000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:95027600-95028000	Weak transcription	Stomach Mucosa	stomach
18	chr1:95027600-95028400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr1:95027800-95028200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:95027800-95028400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:95028000-95028800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:95028000-95028800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:95028000-95029000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:95028000-95029000	Enhancers	Stomach Mucosa	stomach
25	chr1:95028000-95029000	Enhancers	HSMMtube	muscle
26	chr1:95028000-95029200	Enhancers	Fetal Intestine Large	intestine
27	chr1:95028200-95028400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:95028200-95028400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:95028200-95028400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr1:95028200-95028400	Enhancers	A549	lung
31	chr1:95028200-95028600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:95028200-95028600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:95028200-95028600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:95028200-95028800	Enhancers	Pancreas	Pancrea
35	chr1:95028200-95028800	Flanking Active TSS	HepG2	liver
36	chr1:95028200-95029000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:95028200-95029000	Enhancers	Colonic Mucosa	Colon
38	chr1:95028200-95029000	Enhancers	Duodenum Mucosa	Duodenum
39	chr1:95028200-95029000	Enhancers	Fetal Intestine Small	intestine
40	chr1:95028200-95029000	Enhancers	Placenta	Placenta
41	chr1:95028200-95029000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr1:95028200-95029200	Enhancers	Hela-S3	cervix
43	chr1:95028400-95028600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:95028400-95028800	Enhancers	Esophagus	oesophagus
45	chr1:95028400-95028800	Flanking Active TSS	A549	lung
46	chr1:95028400-95031400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:95028600-95028800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr1:95028600-95029200	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr1:95028600-95032000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:95028600-95043400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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