Variant report

Variant	nsv998979
Chromosome Location	chr1:213029814-213073013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:977)
CpG islands
(count:977)
Chromatin interactive
region (count:49)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:213033673-213034649	K562	blood:	n/a	n/a
2	ARID3A	chr1:213030954-213031778	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:213031538-213031667	K562	blood:	n/a	n/a
4	ATF1	chr1:213034007-213034634	K562	blood:	n/a	n/a
5	ATF1	chr1:213030963-213031732	K562	blood:	n/a	n/a
6	ATF2	chr1:213031169-213031664	GM12878	blood:	n/a	n/a
7	ATF2	chr1:213065662-213066080	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr1:213046866-213047287	GM12878	blood:	n/a	n/a
9	ATF2	chr1:213046719-213047387	GM12878	blood:	n/a	n/a
10	ATF2	chr1:213030988-213031837	GM12878	blood:	n/a	n/a
11	ATF2	chr1:213030866-213031687	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr1:213033948-213034674	K562	blood:	n/a	n/a
13	BACH1	chr1:213031013-213032131	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr1:213034109-213034763	K562	blood:	n/a	n/a
15	BATF	chr1:213046841-213047186	GM12878	blood:	n/a	n/a
16	BATF	chr1:213046779-213047269	GM12878	blood:	n/a	n/a
17	BCL11A	chr1:213046812-213047275	GM12878	blood:	n/a	n/a
18	BCL11A	chr1:213046944-213047161	GM12878	blood:	n/a	n/a
19	BCL3	chr1:213030886-213031932	A549	lung:	n/a	chr1:213031757-213031766 chr1:213031597-213031610
20	BCLAF1	chr1:213031065-213031792	GM12878	blood:	n/a	chr1:213031757-213031766 chr1:213031597-213031610
21	BCLAF1	chr1:213046715-213047286	GM12878	blood:	n/a	n/a
22	BHLHE40	chr1:213034064-213034655	K562	blood:	n/a	n/a
23	BHLHE40	chr1:213031030-213031830	GM12878	blood:	n/a	n/a
24	BHLHE40	chr1:213030923-213032380	K562	blood:	n/a	n/a
25	BHLHE40	chr1:213046850-213047258	GM12878	blood:	n/a	n/a
26	BRCA1	chr1:213031226-213031625	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr1:213031454-213031675	HepG2	liver:	n/a	n/a
28	BRCA1	chr1:213030950-213031824	Hela-S3	cervix:	n/a	n/a
29	CBX3	chr1:213030683-213032714	K562	blood:	n/a	n/a
30	CBX3	chr1:213033576-213034754	K562	blood:	n/a	n/a
31	CBX3	chr1:213030908-213031723	K562	blood:	n/a	n/a
32	CCNT2	chr1:213034005-213034539	K562	blood:	n/a	n/a
33	CCNT2	chr1:213031017-213032445	K562	blood:	n/a	n/a
34	CEBPB	chr1:213036752-213037135	A549	lung:	n/a	chr1:213036881-213036892
35	CEBPB	chr1:213046562-213046765	A549	lung:	n/a	n/a
36	CEBPB	chr1:213046466-213046775	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr1:213031558-213031659	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr1:213036728-213037310	Hela-S3	cervix:	n/a	chr1:213036881-213036892
39	CEBPB	chr1:213045423-213045595	K562	blood:	n/a	n/a
40	CEBPB	chr1:213045445-213045618	HepG2	liver:	n/a	n/a
41	CEBPB	chr1:213071982-213072205	A549	lung:	n/a	n/a
42	CEBPB	chr1:213034063-213034551	K562	blood:	n/a	n/a
43	CEBPB	chr1:213036809-213036958	HepG2	liver:	n/a	chr1:213036881-213036892
44	CEBPB	chr1:213071980-213072167	IMR90	lung:	n/a	n/a
45	CEBPB	chr1:213045392-213045648	HepG2	liver:	n/a	n/a
46	CEBPB	chr1:213036785-213037061	H1-hESC	embryonic stem cell:	n/a	chr1:213036881-213036892
47	CEBPB	chr1:213035440-213035696	K562	blood:	n/a	chr1:213035581-213035592
48	CEBPB	chr1:213035427-213035731	HepG2	liver:	n/a	chr1:213035581-213035592
49	CEBPB	chr1:213036724-213037037	K562	blood:	n/a	chr1:213036881-213036892
50	CEBPB	chr1:213036728-213037152	A549	lung:	n/a	chr1:213036881-213036892

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:213031575-213031625	AG04450	lung:	fetal
2	chr1:213031575-213031625	AG04450	lung:	fetal
3	chr1:213053599-213053649	AoSMC	blood vessel:	n/a
4	chr1:213035301-213035351	HAEpiC	amniotic membrane:	n/a
5	chr1:213031022-213031072	HMEC	breast:	n/a
6	chr1:213031749-213031799	HAEpiC	amniotic membrane:	n/a
7	chr1:213031735-213031785	SK-N-SH	brain:	n/a
8	chr1:213035301-213035351	HL-60	blood:	n/a
9	chr1:213030449-213030499	T-47D	breast:	n/a
10	chr1:213068483-213068533	U87	brain:	n/a
11	chr1:213031575-213031625	AG09309	skin:	n/a
12	chr1:213030334-213030384	LNCaP	prostate:	n/a
13	chr1:213031266-213031316	AG04449	skin:	fetal
14	chr1:213030449-213030499	HRCEpiC	kidney:	n/a
15	chr1:213030372-213030422	Caco-2	colon:	n/a
16	chr1:213032677-213032727	GM19239	blood:	n/a
17	chr1:213032677-213032727	SK-N-SH_RA	brain:	n/a
18	chr1:213035301-213035351	AG09309	skin:	n/a
19	chr1:213031735-213031785	HUVEC	blood vessel:	n/a
20	chr1:213068483-213068533	HCM	heart:	n/a
21	chr1:213031989-213032039	A549	lung:	n/a
22	chr1:213031735-213031785	U87	brain:	n/a
23	chr1:213032108-213032158	AG10803	skin:	n/a
24	chr1:213032677-213032727	SK-N-SH	brain:	n/a
25	chr1:213031375-213031425	CMK	blood:	n/a
26	chr1:213030334-213030384	CMK	blood:	n/a
27	chr1:213031022-213031072	NHDF-neo	bronchial:	n/a
28	chr1:213032677-213032727	AG10803	skin:	n/a
29	chr1:213031375-213031425	U87	brain:	n/a
30	chr1:213030372-213030422	NT2-D1	testis:	n/a
31	chr1:213031266-213031316	AG09319	gingival:	n/a
32	chr1:213031375-213031425	HRE	kidney:	n/a
33	chr1:213030449-213030499	NHDF-neo	bronchial:	n/a
34	chr1:213031743-213031793	K562	blood:	n/a
35	chr1:213031375-213031425	NHDF-neo	bronchial:	n/a
36	chr1:213035301-213035351	HRPEpiC	eye:	n/a
37	chr1:213035301-213035351	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:213031743-213031793	BE2_C	brain:	n/a
39	chr1:213030449-213030499	HL-60	blood:	n/a
40	chr1:213031375-213031425	SK-N-MC	brain:	n/a
41	chr1:213031575-213031625	AG09319	gingival:	n/a
42	chr1:213031749-213031799	HepG2	liver:	n/a
43	chr1:213031375-213031425	SAEC	small airway:	n/a
44	chr1:213031749-213031799	AG09309	skin:	n/a
45	chr1:213030372-213030422	SKMC	muscle:	n/a
46	chr1:213030372-213030422	HNPCEpiC	eye:	n/a
47	chr1:213031022-213031072	SK-N-SH	brain:	n/a
48	chr1:213031735-213031785	NHBE	bronchial:	n/a
49	chr1:213031749-213031799	NH-A	brain:	n/a
50	chr1:213030449-213030499	HAEpiC	amniotic membrane:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:213030296..213033597-chr1:213041036..213045224,4	MCF-7	breast:
2	chr1:212963844..212966660-chr1:213033976..213036564,3	K562	blood:
3	chr1:212782866..212786640-chr1:213033437..213035689,3	K562	blood:
4	chr1:213026064..213028809-chr1:213029690..213032627,2	K562	blood:
5	chr1:213052892..213055241-chr1:213058801..213060311,2	K562	blood:
6	chr1:212965461..212968054-chr1:213031452..213034127,2	MCF-7	breast:
7	chr1:213036434..213038020-chr1:213044367..213045899,2	K562	blood:
8	chr1:213040300..213042691-chr1:213054339..213056368,2	K562	blood:
9	chr1:212965176..212966735-chr1:213030010..213031816,2	K562	blood:
10	chr1:213045207..213049301-chr1:213053372..213057994,4	K562	blood:
11	chr1:213034209..213036356-chr1:213045546..213047572,3	K562	blood:
12	chr1:213029061..213031968-chr1:213032486..213034078,2	K562	blood:
13	chr1:213052892..213055241-chr1:213058801..213060311,2	K562	blood:
14	chr1:213040115..213041800-chr1:213054339..213055874,2	K562	blood:
15	chr1:213025871..213028763-chr1:213030169..213033277,3	MCF-7	breast:
16	chr1:213027721..213030641-chr1:213032667..213035705,3	K562	blood:
17	chr1:213032255..213037228-chr1:213037322..213040248,4	K562	blood:
18	chr1:213067051..213070397-chr1:213070483..213072909,3	K562	blood:
19	chr1:213032255..213037228-chr1:213037322..213040248,4	K562	blood:
20	chr1:213031563..213032232-chr19:2269946..2270753,2	Hela-S3	cervix:
21	chr1:213039761..213041483-chr1:213052731..213054892,2	MCF-7	breast:
22	chr1:213030101..213032938-chr1:213186047..213190102,3	K562	blood:
23	chr1:212963280..212966676-chr1:213030010..213031803,4	K562	blood:
24	chr1:213025489..213028696-chr1:213029248..213033184,3	K562	blood:
25	chr1:212963050..212964812-chr1:213052963..213055078,2	K562	blood:
26	chr1:213032682..213037696-chr1:213038069..213043473,6	K562	blood:
27	chr1:213039818..213042123-chr1:213045133..213047613,2	K562	blood:
28	chr1:213064005..213065889-chr1:213067307..213069362,2	K562	blood:
29	chr1:213039761..213041483-chr1:213052731..213054892,2	MCF-7	breast:
30	chr1:213031674..213033675-chr1:213035938..213038632,2	MCF-7	breast:
31	chr1:213031272..213038020-chr1:213040720..213048331,10	K562	blood:
32	chr1:213057935..213060680-chr1:213189161..213191912,2	K562	blood:
33	chr1:213031111..213032891-chr1:213044814..213047099,3	MCF-7	breast:
34	chr1:212780963..212783929-chr1:213057781..213060103,3	K562	blood:
35	chr1:213039818..213042123-chr1:213045133..213047613,2	K562	blood:
36	chr1:213019184..213021421-chr1:213029036..213031526,2	K562	blood:
37	chr1:213055380..213057887-chr1:213059654..213061319,2	K562	blood:
38	chr1:213002092..213003822-chr1:213040039..213042148,2	K562	blood:
39	chr1:213067051..213070397-chr1:213070483..213072909,3	K562	blood:
40	chr1:213031210..213032182-chr8:145641945..145642591,2	HCT-116	colon:
41	chr1:213034209..213036356-chr1:213045546..213047572,3	K562	blood:
42	chr1:213064005..213065889-chr1:213067307..213069362,2	K562	blood:
43	chr1:213040115..213041800-chr1:213054339..213055874,2	K562	blood:
44	chr1:212977806..212980707-chr1:213030715..213033244,2	K562	blood:
45	chr1:212779176..212786217-chr1:213030148..213034937,8	K562	blood:
46	chr1:213051536..213053603-chr1:213168985..213171971,2	K562	blood:
47	chr1:213001465..213003584-chr1:213040615..213043476,2	MCF-7	breast:
48	chr1:213031674..213033675-chr1:213035938..213038632,2	MCF-7	breast:
49	chr1:213040300..213042691-chr1:213054339..213056368,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf227-1	chr1:213031108-213031480	NONHSAT009410
2	lnc-C1orf227-1	chr1:213028819-213030263	XLOC_001197
3	lnc-C1orf227-1	chr1:213029946-213030514	NONHSAT009411
4	lnc-C1orf227-1	chr1:213031108-213031480	XLOC_001197
5	lnc-C1orf227-1	chr1:213031108-213031430	ENSG00000198468.3
6	lnc-C1orf227-1	chr1:213031108-213031430	ENSG00000198468
7	lnc-C1orf227-1	chr1:213031108-213031480	NONHSAT009411
8	lnc-C1orf227-2	chr1:213072869-213073048	NONHSAT009413
9	lnc-C1orf227-1	chr1:213029946-213030514	ENSG00000198468
10	lnc-C1orf227-1	chr1:213029946-213030260	NONHSAT009410
11	lnc-C1orf227-1	chr1:213031108-213031452	XLOC_001197
12	lnc-C1orf227-1	chr1:213031108-213031430	ENSG00000198468
13	lnc-C1orf227-1	chr1:213029947-213030260	XLOC_001197
14	lnc-C1orf227-1	chr1:213029946-213030260	ENSG00000198468
15	lnc-C1orf227-1	chr1:213031108-213031430	ENSG00000198468

No data

Variant related genes	Relation type
ENSG00000236317	TF binding region
FLVCR1-AS1	TF binding region
FLVCR1	TF binding region
ENSG00000236317	CpG island
FLVCR1-AS1	CpG island
FLVCR1	CpG island
ENSG00000203705	chromatin interactions
ENSG00000162772	chromatin interactions
ENSG00000162769	chromatin interactions
ENSG00000236317	chromatin interactions
ENSG00000104904	chromatin interactions
ENSG00000235182	chromatin interactions
ENSG00000117697	chromatin interactions
ENSG00000198468	chromatin interactions
ENSG00000174606	chromatin interactions
ENSG00000185523	chromatin interactions
ENSG00000147804	chromatin interactions
TH1L	miRNA target sites
RABEP1	miRNA target sites
MUTED	miRNA target sites
NF2	miRNA target sites
IFIT1	miRNA target sites

Extended variants
information (count: 1808 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1808 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17019780	chr1:213029814-213029815	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12048325	chr1:213029857-213029858	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs533166252	chr1:213029866-213029867	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs548738762	chr1:213029867-213029868	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs75043042	chr1:213029868-213029869	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs571981001	chr1:213029871-213029872	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs200137412	chr1:213029877-213029878	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs41296662	chr1:213029879-213029880	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs376044416	chr1:213029928-213029929	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs1298967	chr1:213029932-213029933	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs563860138	chr1:213029972-213029973	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs576978243	chr1:213029980-213029981	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs544413150	chr1:213029988-213029989	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs41296664	chr1:213029996-213029997	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs373369895	chr1:213030019-213030020	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
16	rs556935830	chr1:213030101-213030102	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs558862875	chr1:213030105-213030106	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs530325553	chr1:213030140-213030141	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs144172232	chr1:213030148-213030149	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
20	rs147771601	chr1:213030187-213030188	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
21	rs566237344	chr1:213030214-213030215	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
22	rs535002720	chr1:213030216-213030217	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
23	rs189602679	chr1:213030218-213030219	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
24	rs552615608	chr1:213030287-213030288	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
25	rs570965281	chr1:213030301-213030302	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
26	rs41296666	chr1:213030322-213030323	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574497014	chr1:213030357-213030358	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
28	rs549995739	chr1:213030404-213030405	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
29	rs568289963	chr1:213030430-213030431	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
30	rs575267153	chr1:213030459-213030460	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
31	rs41296668	chr1:213030462-213030463	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2279692	chr1:213030534-213030535	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs41296670	chr1:213030540-213030541	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557391397	chr1:213030602-213030603	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs11581187	chr1:213030621-213030622	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs35665065	chr1:213030647-213030648	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs577247677	chr1:213030671-213030672	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs575724753	chr1:213030675-213030676	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs11803558	chr1:213030685-213030686	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs41296672	chr1:213030695-213030696	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs76720745	chr1:213030723-213030724	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs75028651	chr1:213030726-213030727	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs543160457	chr1:213030803-213030804	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs562723278	chr1:213030814-213030815	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs574969976	chr1:213030860-213030861	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs372994102	chr1:213030886-213030887	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs71147040	chr1:213030909-213030910	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs41296674	chr1:213030958-213030959	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs41296676	chr1:213030967-213030968	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs41296678	chr1:213030981-213030982	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:1964 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213022600-213030000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:213024200-213030000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:213024200-213030200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:213025200-213030200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:213025800-213030000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:213026000-213030200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:213026000-213030200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:213026200-213030400	Weak transcription	Right Atrium	heart
9	chr1:213026200-213030800	Weak transcription	Thymus	Thymus
10	chr1:213026400-213030200	Weak transcription	Primary T cells from cord blood	blood
11	chr1:213026400-213030400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:213026600-213030000	Weak transcription	Primary B cells from cord blood	blood
13	chr1:213026600-213030000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:213026600-213030000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:213026600-213030000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:213026600-213030200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:213026600-213030200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:213026600-213030200	Weak transcription	Fetal Kidney	kidney
19	chr1:213026600-213030200	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:213026600-213030200	Weak transcription	Spleen	Spleen
21	chr1:213026600-213030200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:213026600-213030200	Weak transcription	NHEK	skin
23	chr1:213026800-213030000	Enhancers	HepG2	liver
24	chr1:213026800-213030200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:213027000-213030000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:213027000-213030200	Weak transcription	Lung	lung
27	chr1:213027200-213030000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:213027400-213030200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:213027400-213030200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:213027600-213030000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:213027600-213030200	Weak transcription	Fetal Stomach	stomach
32	chr1:213027600-213030600	Weak transcription	HSMMtube	muscle
33	chr1:213027800-213030200	Weak transcription	Fetal Intestine Large	intestine
34	chr1:213028200-213030400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:213028400-213030400	Weak transcription	Liver	Liver
36	chr1:213028600-213030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:213028600-213030200	Weak transcription	Pancreas	Pancrea
38	chr1:213028600-213030400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:213028800-213030000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:213028800-213030000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:213028800-213030000	Weak transcription	Left Ventricle	heart
42	chr1:213028800-213030200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:213028800-213030800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:213029000-213030000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:213029600-213030000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:213029600-213030000	Enhancers	Dnd41	blood
47	chr1:213029600-213030600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:213029600-213033200	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr1:213029600-213033400	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr1:213029800-213030000	Active TSS	H9 Cell Line	embryonic stem cell

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