Variant report

Variant	esv1848377
Chromosome Location	chr1:71718838-71964514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:674)
CpG islands
(count:183)
Chromatin interactive
region (count:29)
LncRNA
region (count:55)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:71719024-71719150	K562	blood:	n/a	n/a
2	ATF1	chr1:71778691-71778792	K562	blood:	n/a	n/a
3	ATF1	chr1:71758441-71758554	K562	blood:	n/a	n/a
4	ATF1	chr1:71839584-71839653	K562	blood:	n/a	n/a
5	BACH1	chr1:71773289-71773496	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:71950573-71950579	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr1:71773244-71773527	GM12878	blood:	n/a	chr1:71773395-71773406
8	BCL11A	chr1:71928031-71928271	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL11A	chr1:71927983-71928296	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr1:71956157-71956480	GM12878	blood:	n/a	n/a
11	BCL3	chr1:71953062-71953428	GM12878	blood:	n/a	n/a
12	BCL3	chr1:71953142-71953384	GM12878	blood:	n/a	n/a
13	BCL3	chr1:71956137-71956395	GM12878	blood:	n/a	n/a
14	BRCA1	chr1:71727383-71727432	GM12878	blood:	n/a	n/a
15	BRCA1	chr1:71823557-71823623	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr1:71859079-71859300	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr1:71959895-71960217	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr1:71964324-71964524	H1-hESC	embryonic stem cell:	n/a	chr1:71964419-71964432 chr1:71964419-71964430 chr1:71964419-71964432 chr1:71964419-71964432 chr1:71964420-71964431
19	CEBPB	chr1:71914147-71914509	HepG2	liver:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
20	CEBPB	chr1:71721236-71721432	HepG2	liver:	n/a	chr1:71721317-71721330 chr1:71721317-71721330 chr1:71721319-71721330 chr1:71721319-71721330 chr1:71721317-71721328 chr1:71721317-71721330
21	CEBPB	chr1:71930934-71931218	HepG2	liver:	n/a	chr1:71931145-71931162 chr1:71931065-71931076
22	CEBPB	chr1:71718590-71718927	A549	lung:	n/a	chr1:71718771-71718780 chr1:71718770-71718781
23	CEBPB	chr1:71923017-71923331	IMR90	lung:	n/a	n/a
24	CEBPB	chr1:71961511-71961727	IMR90	lung:	n/a	n/a
25	CEBPB	chr1:71959918-71960236	IMR90	lung:	n/a	n/a
26	CEBPB	chr1:71817163-71817558	IMR90	lung:	n/a	n/a
27	CEBPB	chr1:71930968-71931163	A549	lung:	n/a	chr1:71931145-71931162 chr1:71931065-71931076
28	CEBPB	chr1:71857313-71857530	H1-hESC	embryonic stem cell:	n/a	chr1:71857386-71857397
29	CEBPB	chr1:71857297-71857513	A549	lung:	n/a	chr1:71857386-71857397
30	CEBPB	chr1:71914161-71914482	A549	lung:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
31	CEBPB	chr1:71718652-71718954	ECC-1	luminal epithelium:	n/a	chr1:71718771-71718780 chr1:71718770-71718781
32	CEBPB	chr1:71914227-71914476	K562	blood:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
33	CEBPB	chr1:71857247-71857472	HepG2	liver:	n/a	chr1:71857386-71857397
34	CEBPB	chr1:71718618-71719024	ECC-1	luminal epithelium:	n/a	chr1:71718771-71718780 chr1:71718770-71718781
35	CEBPB	chr1:71956190-71956394	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr1:71831103-71831451	IMR90	lung:	n/a	n/a
37	CEBPB	chr1:71914196-71914408	Hela-S3	cervix:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
38	CEBPB	chr1:71956153-71956490	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr1:71928888-71929212	IMR90	lung:	n/a	n/a
40	CEBPB	chr1:71902907-71903169	IMR90	lung:	n/a	chr1:71903029-71903040
41	CEBPB	chr1:71902874-71903109	HepG2	liver:	n/a	chr1:71903029-71903040
42	CEBPB	chr1:71914163-71914470	H1-hESC	embryonic stem cell:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
43	CEBPB	chr1:71914156-71914512	IMR90	lung:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
44	CEBPB	chr1:71964273-71964584	HepG2	liver:	n/a	chr1:71964419-71964432 chr1:71964419-71964430 chr1:71964419-71964432 chr1:71964419-71964432 chr1:71964420-71964431
45	CEBPB	chr1:71956151-71956460	IMR90	lung:	n/a	n/a
46	CEBPB	chr1:71914214-71914552	MCF-7	breast:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
47	CEBPB	chr1:71718601-71718957	HepG2	liver:	n/a	chr1:71718771-71718780 chr1:71718770-71718781
48	CEBPB	chr1:71857351-71857492	K562	blood:	n/a	chr1:71857386-71857397
49	CEBPB	chr1:71927446-71927664	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr1:71964266-71964603	IMR90	lung:	n/a	chr1:71964419-71964432 chr1:71964419-71964430 chr1:71964419-71964432 chr1:71964419-71964432 chr1:71964420-71964431

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:71830814-71830864	BJ	skin:	n/a
2	chr1:71830814-71830864	T-47D	breast:	n/a
3	chr1:71929976-71930026	MCF10A-Er-Src	breast:	n/a
4	chr1:71830814-71830864	HCM	heart:	n/a
5	chr1:71830814-71830864	A549	lung:	n/a
6	chr1:71904426-71904476	Hela-S3	cervix:	n/a
7	chr1:71929976-71930026	CMK	blood:	n/a
8	chr1:71929976-71930026	HPAEpiC	pulmonary alveolar:	n/a
9	chr1:71830814-71830864	H1-hESC	embryonic stem cell:	embryo
10	chr1:71904426-71904476	GM06990	blood:	n/a
11	chr1:71830814-71830864	PrEC	prostate:	n/a
12	chr1:71929976-71930026	SK-N-SH	brain:	n/a
13	chr1:71830814-71830864	Caco-2	colon:	n/a
14	chr1:71929976-71930026	HAEpiC	amniotic membrane:	n/a
15	chr1:71830814-71830864	GM19239	blood:	n/a
16	chr1:71904426-71904476	HRCEpiC	kidney:	n/a
17	chr1:71904426-71904476	SAEC	small airway:	n/a
18	chr1:71929976-71930026	HRCEpiC	kidney:	n/a
19	chr1:71830814-71830864	AG09309	skin:	n/a
20	chr1:71904426-71904476	K562	blood:	n/a
21	chr1:71929976-71930026	GM12892	blood:	n/a
22	chr1:71929976-71930026	HIPEpiC	eye:	n/a
23	chr1:71904426-71904476	CMK	blood:	n/a
24	chr1:71929976-71930026	Hepatocyte	liver:	n/a
25	chr1:71830814-71830864	ovcar-3	ovarian:	n/a
26	chr1:71929976-71930026	K562	blood:	n/a
27	chr1:71830814-71830864	GM06990	blood:	n/a
28	chr1:71904426-71904476	NHDF-neo	bronchial:	n/a
29	chr1:71929976-71930026	HEK293	kidney:	embryo
30	chr1:71904426-71904476	LNCaP	prostate:	n/a
31	chr1:71830814-71830864	AG10803	skin:	n/a
32	chr1:71830814-71830864	HRE	kidney:	n/a
33	chr1:71929976-71930026	AG04449	skin:	fetal
34	chr1:71830814-71830864	HMEC	breast:	n/a
35	chr1:71830814-71830864	HL-60	blood:	n/a
36	chr1:71904426-71904476	H1-hESC	embryonic stem cell:	embryo
37	chr1:71830814-71830864	HNPCEpiC	eye:	n/a
38	chr1:71830814-71830864	HCT-116	colon:	n/a
39	chr1:71929976-71930026	HCT-116	colon:	n/a
40	chr1:71830814-71830864	GM12891	blood:	n/a
41	chr1:71904426-71904476	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:71904426-71904476	HCPEpiC	choroid plexus:	n/a
43	chr1:71929976-71930026	IMR90	lung:	fetal
44	chr1:71929976-71930026	GM19239	blood:	n/a
45	chr1:71904426-71904476	ProgFib	skin:	n/a
46	chr1:71904426-71904476	A549	lung:	n/a
47	chr1:71830814-71830864	U87	brain:	n/a
48	chr1:71904426-71904476	Hepatocyte	liver:	n/a
49	chr1:71830814-71830864	PANC-1	pancreas:	n/a
50	chr1:71904426-71904476	HNPCEpiC	eye:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:71813943..71816406-chr1:71819082..71821648,2	K562	blood:
2	chr1:71885933..71887641-chr1:71889181..71890999,2	K562	blood:
3	chr1:71914181..71914987-chr1:71994857..71995392,2	MCF-7	breast:
4	chr1:71942559..71944248-chr1:71944744..71947074,2	MCF-7	breast:
5	chr1:71920535..71922572-chr1:71923828..71926094,2	MCF-7	breast:
6	chr1:71885933..71887641-chr1:71889181..71890999,2	K562	blood:
7	chr1:71914108..71914677-chr16:85554351..85554911,2	MCF-7	breast:
8	chr1:71914037..71914921-chr1:71926795..71927704,3	MCF-7	breast:
9	chr1:71926381..71928732-chr1:71944427..71946345,2	K562	blood:
10	chr1:71545214..71547722-chr1:71720590..71722886,2	K562	blood:
11	chr1:71914328..71914851-chr1:71927223..71927813,2	MCF-7	breast:
12	chr1:71914328..71914851-chr1:71927223..71927813,2	MCF-7	breast:
13	chr1:71915989..71918426-chr1:72103464..72106010,2	K562	blood:
14	chr1:71813943..71816406-chr1:71819082..71821648,2	K562	blood:
15	chr1:71513260..71514174-chr1:71822945..71823752,2	K562	blood:
16	chr1:71913901..71916757-chr1:71917212..71919277,2	K562	blood:
17	chr1:71941950..71944127-chr1:71948756..71950368,2	K562	blood:
18	chr1:71914328..71914976-chr1:71927298..71927813,2	MCF-7	breast:
19	chr1:71920535..71922572-chr1:71923828..71926094,2	MCF-7	breast:
20	chr1:71926381..71928732-chr1:71944427..71946345,2	K562	blood:
21	chr1:71941193..71943663-chr1:71947061..71948900,2	K562	blood:
22	chr1:71941950..71944127-chr1:71948756..71950368,2	K562	blood:
23	chr1:71924869..71926479-chr1:71926979..71928831,2	MCF-7	breast:
24	chr1:71914328..71914976-chr1:71927298..71927813,2	MCF-7	breast:
25	chr1:71942559..71944248-chr1:71944744..71947074,2	MCF-7	breast:
26	chr1:71914037..71914921-chr1:71926795..71927704,3	MCF-7	breast:
27	chr1:71913901..71916757-chr1:71917212..71919277,2	K562	blood:
28	chr1:71941193..71943663-chr1:71947061..71948900,2	K562	blood:
29	chr1:71924869..71926479-chr1:71926979..71928831,2	MCF-7	breast:

(count:55 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
2	lnc-CTH-6	chr1:71933967-71934193	ENSG00000229956.5
3	lnc-CTH-6	chr1:71867405-71867562	ENSG00000229956.5
4	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.2
5	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
6	lnc-CTH-6	chr1:71953674-71953831	ENSG00000229956.5
7	lnc-CTH-6	chr1:71833738-71833771	ENSG00000229956.2
8	lnc-CTH-6	chr1:71867530-71867562	ENSG00000227126.1
9	lnc-CTH-6	chr1:71873304-71873367	ENSG00000229956.5
10	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
11	lnc-NEGR1-2	chr1:71832737-71832986	NONHSAT003896
12	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
13	lnc-CTH-6	chr1:71833738-71833771	ENSG00000229956.5
14	lnc-CTH-6	chr1:71868179-71868254	ENSG00000229956.5
15	lnc-CTH-6	chr1:71873304-71873367	ENSG00000229956.5
16	lnc-CTH-6	chr1:71873304-71873362	ENSG00000229956.5
17	lnc-CTH-6	chr1:71887053-71887155	ENSG00000229956.5
18	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
19	lnc-CTH-6	chr1:71867782-71868254	ENSG00000229956.5
20	lnc-CTH-6	chr1:71888187-71888658	ENSG00000229956.5
21	lnc-CTH-6	chr1:71950469-71950519	ENSG00000229956.5
22	lnc-CTH-6	chr1:71929014-71929184	ENSG00000229956.2
23	lnc-CTH-6	chr1:71952081-71952130	ENSG00000229956.5
24	lnc-CTH-6	chr1:71888187-71888658	ENSG00000229956.5
25	lnc-CTH-6	chr1:71868179-71868254	ENSG00000227126.1
26	lnc-CTH-6	chr1:71927244-71927500	ENSG00000229956.5
27	lnc-CTH-6	chr1:71733588-71733913	ENSG00000229956
28	lnc-CTH-6	chr1:71830721-71830882	ENSG00000229956.5
29	lnc-CTH-6	chr1:71929014-71929208	ENSG00000229956.5
30	lnc-CTH-6	chr1:71938265-71938324	ENSG00000229956.5
31	lnc-CTH-6	chr1:71873304-71873407	ENSG00000227126.1
32	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
33	lnc-CTH-6	chr1:71874622-71874694	ENSG00000229956.5
34	lnc-CTH-6	chr1:71955391-71955652	ENSG00000229956.5
35	lnc-CTH-6	chr1:71887053-71887155	ENSG00000229956.5
36	lnc-CTH-6	chr1:71873327-71873498	ENSG00000229956.5
37	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
38	lnc-CTH-6	chr1:71952081-71952751	ENSG00000229956.5
39	lnc-CTH-6	chr1:71927244-71927500	ENSG00000229956.5
40	lnc-CTH-6	chr1:71873316-71873554	ENSG00000229956.5
41	lnc-CTH-6	chr1:71873327-71873498	ENSG00000229956.5
42	lnc-CTH-6	chr1:71929014-71929063	ENSG00000229956.5
43	lnc-CTH-6	chr1:71770042-71770098	ENSG00000229956.5
44	lnc-CTH-6	chr1:71873304-71873341	ENSG00000229956.5
45	lnc-CTH-6	chr1:71938265-71938324	ENSG00000229956.5
46	lnc-CTH-6	chr1:71873323-71873554	ENSG00000229956.5
47	lnc-CTH-6	chr1:71952081-71952196	ENSG00000229956.5
48	lnc-CTH-6	chr1:71952081-71952217	ENSG00000229956.5
49	lnc-CTH-6	chr1:71950469-71950519	ENSG00000229956.5
50	lnc-CTH-6	chr1:71955391-71955586	ENSG00000229956.5

No data

Variant related genes	Relation type
ENSG00000226324	TF binding region
NEGR1	TF binding region
ZRANB2-AS2	TF binding region
ENSG00000226324	CpG island
NEGR1	CpG island
ZRANB2-AS2	CpG island
ENSG00000050628	chromatin interactions
ENSG00000229956	chromatin interactions
ENSG00000132485	chromatin interactions
CDK19	miRNA target sites

Extended variants
information (count: 4401 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:4401 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2790675	chr1:71718838-71718839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558481583	chr1:71718849-71718850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs36117323	chr1:71718876-71718877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142511905	chr1:71718893-71718894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182253389	chr1:71718966-71718967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375763355	chr1:71718991-71718992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533155612	chr1:71719000-71719001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553814360	chr1:71719019-71719020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573779293	chr1:71719068-71719069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368133687	chr1:71719104-71719105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551797329	chr1:71719141-71719142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542637451	chr1:71719162-71719163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2066373	chr1:71720627-71720628	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs377049761	chr1:71720676-71720677	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs145457877	chr1:71720688-71720689	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs9660789	chr1:71720743-71720744	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372761243	chr1:71720745-71720746	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376997995	chr1:71720754-71720755	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374612180	chr1:71720759-71720760	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs556594924	chr1:71720770-71720771	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs576376578	chr1:71720776-71720777	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs539058989	chr1:71720807-71720808	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558658370	chr1:71720825-71720826	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572823841	chr1:71720832-71720833	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs182603436	chr1:71720848-71720849	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs555204126	chr1:71720853-71720854	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs149940382	chr1:71720869-71720870	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs2567416	chr1:71720921-71720922	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543167856	chr1:71720944-71720945	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs118057187	chr1:71721069-71721070	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532085902	chr1:71721086-71721087	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs188520544	chr1:71721110-71721111	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs193173226	chr1:71721119-71721120	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs183311598	chr1:71721120-71721121	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs578199234	chr1:71721125-71721126	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs147680615	chr1:71721127-71721128	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs548038042	chr1:71721205-71721206	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs567937596	chr1:71721214-71721215	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs530699481	chr1:71721270-71721271	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs111937371	chr1:71721274-71721275	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs550487894	chr1:71721386-71721387	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs570162318	chr1:71721444-71721445	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs373061728	chr1:71721508-71721509	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs577964221	chr1:71721511-71721512	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs558951596	chr1:71721536-71721537	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs144786960	chr1:71721538-71721539	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs75231909	chr1:71721542-71721543	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs145882742	chr1:71721560-71721561	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs189055937	chr1:71721571-71721572	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs553771976	chr1:71721595-71721596	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Melanoma	17363583	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
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
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71717800-71719200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:71718400-71719000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:71723200-71724600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:71725800-71726000	Enhancers	Fetal Brain Female	brain
5	chr1:71727200-71733000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:71728400-71729000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:71728400-71729000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:71729200-71729600	Enhancers	Fetal Brain Male	brain
9	chr1:71729800-71733600	Weak transcription	Fetal Brain Male	brain
10	chr1:71732600-71733800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:71733000-71734400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:71733000-71736400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:71733400-71736400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:71733600-71733800	Enhancers	Fetal Brain Male	brain
15	chr1:71733600-71736600	Enhancers	NHDF-Ad	bronchial
16	chr1:71733800-71734400	Weak transcription	Fetal Brain Male	brain
17	chr1:71734400-71736000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:71734600-71734800	Enhancers	Fetal Brain Male	brain
19	chr1:71734800-71735600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:71735800-71736200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:71736200-71736800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:71736400-71737800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:71736400-71739200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:71736600-71738800	Weak transcription	NHDF-Ad	bronchial
25	chr1:71737000-71737800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:71737800-71738000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:71737800-71739400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:71738800-71739600	Enhancers	NHDF-Ad	bronchial
29	chr1:71739200-71740400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:71740200-71740800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:71742200-71742400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:71742400-71751000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:71751000-71751200	ZNF genes & repeats	Pancreas	Pancrea
34	chr1:71751000-71751400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:71751000-71751400	Enhancers	HMEC	breast
36	chr1:71751200-71754000	Weak transcription	Pancreas	Pancrea
37	chr1:71759600-71762400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:71759600-71762800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:71760000-71760200	Enhancers	HMEC	breast
40	chr1:71760200-71760400	Enhancers	NHDF-Ad	bronchial
41	chr1:71760200-71761000	Weak transcription	HMEC	breast
42	chr1:71760400-71761200	Weak transcription	NHDF-Ad	bronchial
43	chr1:71761000-71761400	Enhancers	Adipose Nuclei	Adipose
44	chr1:71761000-71763200	Enhancers	HMEC	breast
45	chr1:71761000-71763400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr1:71761000-71763400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:71761200-71762600	Enhancers	NHDF-Ad	bronchial
48	chr1:71762200-71763200	Enhancers	Fetal Muscle Leg	muscle
49	chr1:71762400-71764400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:71762800-71764200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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