Variant report

Variant	nsv949599
Chromosome Location	chr1:71655652-72327802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1934)
CpG islands
(count:427)
Chromatin interactive
region (count:58)
LncRNA
region (count:87)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1934 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:71839584-71839653	K562	blood:	n/a	n/a
2	ATF1	chr1:71778691-71778792	K562	blood:	n/a	n/a
3	ATF1	chr1:71719024-71719150	K562	blood:	n/a	n/a
4	ATF1	chr1:71758441-71758554	K562	blood:	n/a	n/a
5	BACH1	chr1:71694971-71694979	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:71688322-71688745	H1-hESC	embryonic stem cell:	n/a	chr1:71688518-71688532
7	BACH1	chr1:71950573-71950579	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr1:71773289-71773496	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr1:71694431-71694766	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr1:72051772-72051970	GM12878	blood:	n/a	n/a
11	BATF	chr1:72246439-72246725	GM12878	blood:	n/a	chr1:72246586-72246597 chr1:72246587-72246597
12	BATF	chr1:72246451-72246721	GM12878	blood:	n/a	chr1:72246586-72246597 chr1:72246587-72246597
13	BATF	chr1:71773244-71773527	GM12878	blood:	n/a	chr1:71773395-71773406
14	BATF	chr1:72049996-72050255	GM12878	blood:	n/a	n/a
15	BATF	chr1:72082343-72082505	GM12878	blood:	n/a	chr1:72082460-72082471
16	BATF	chr1:72037796-72037968	GM12878	blood:	n/a	n/a
17	BCL11A	chr1:71927983-71928296	H1-hESC	embryonic stem cell:	n/a	n/a
18	BCL11A	chr1:71928031-71928271	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL3	chr1:71956157-71956480	GM12878	blood:	n/a	n/a
20	BCL3	chr1:71953142-71953384	GM12878	blood:	n/a	n/a
21	BCL3	chr1:71953062-71953428	GM12878	blood:	n/a	n/a
22	BCL3	chr1:71956137-71956395	GM12878	blood:	n/a	n/a
23	BHLHE40	chr1:72037702-72038280	GM12878	blood:	n/a	n/a
24	BHLHE40	chr1:72205203-72205242	GM12878	blood:	n/a	n/a
25	BRCA1	chr1:71823557-71823623	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr1:71706352-71706362	GM12878	blood:	n/a	n/a
27	BRCA1	chr1:71727383-71727432	GM12878	blood:	n/a	n/a
28	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
29	CEBPB	chr1:71718652-71718954	ECC-1	luminal epithelium:	n/a	chr1:71718771-71718780 chr1:71718770-71718781
30	CEBPB	chr1:71930934-71931218	HepG2	liver:	n/a	chr1:71931145-71931162 chr1:71931065-71931076
31	CEBPB	chr1:71859079-71859300	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr1:71959895-71960217	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr1:72230432-72230774	A549	lung:	n/a	chr1:72230589-72230600
34	CEBPB	chr1:71718590-71718927	A549	lung:	n/a	chr1:71718771-71718780 chr1:71718770-71718781
35	CEBPB	chr1:71769898-71770122	Hela-S3	cervix:	n/a	chr1:71769975-71769986 chr1:71769975-71769988
36	CEBPB	chr1:72326736-72327069	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr1:72093008-72093050	K562	blood:	n/a	chr1:72093010-72093023 chr1:72093010-72093021 chr1:72093010-72093023
38	CEBPB	chr1:72214678-72215002	IMR90	lung:	n/a	chr1:72214832-72214845
39	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
40	CEBPB	chr1:72132885-72133214	HepG2	liver:	n/a	chr1:72133033-72133044 chr1:72133032-72133045 chr1:72133032-72133045 chr1:72133121-72133134
41	CEBPB	chr1:72161508-72161870	IMR90	lung:	n/a	n/a
42	CEBPB	chr1:71902874-71903109	HepG2	liver:	n/a	chr1:71903029-71903040
43	CEBPB	chr1:72132835-72133315	ECC-1	luminal epithelium:	n/a	chr1:72133033-72133044 chr1:72133032-72133045 chr1:72133032-72133045 chr1:72133121-72133134
44	CEBPB	chr1:71928888-71929212	IMR90	lung:	n/a	n/a
45	CEBPB	chr1:71718625-71718915	Hela-S3	cervix:	n/a	chr1:71718771-71718780 chr1:71718770-71718781
46	CEBPB	chr1:72029778-72029966	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr1:71959918-71960236	IMR90	lung:	n/a	n/a
48	CEBPB	chr1:71817163-71817558	IMR90	lung:	n/a	n/a
49	CEBPB	chr1:72132278-72133317	IMR90	lung:	n/a	chr1:72133033-72133044 chr1:72133032-72133045 chr1:72133032-72133045 chr1:72133121-72133134
50	CEBPB	chr1:71655590-71655695	IMR90	lung:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:71694460-71694510	SKMC	muscle:	n/a
2	chr1:71830814-71830864	PFSK-1	brain:	n/a
3	chr1:71904426-71904476	HIPEpiC	eye:	n/a
4	chr1:71830814-71830864	NHDF-neo	bronchial:	n/a
5	chr1:71929976-71930026	HMEC	breast:	n/a
6	chr1:71904426-71904476	AG04449	skin:	fetal
7	chr1:72058414-72058464	HEEpiC	esophagus:	n/a
8	chr1:72058414-72058464	PFSK-1	brain:	n/a
9	chr1:71830814-71830864	HUVEC	blood vessel:	n/a
10	chr1:72302970-72303020	HEK293	kidney:	embryo
11	chr1:72302970-72303020	HRCEpiC	kidney:	n/a
12	chr1:71694460-71694510	HCM	heart:	n/a
13	chr1:72302970-72303020	MCF-7	breast:	n/a
14	chr1:72302970-72303020	SK-N-MC	brain:	n/a
15	chr1:72302970-72303020	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:71929976-71930026	SK-N-MC	brain:	n/a
17	chr1:72302970-72303020	AoSMC	blood vessel:	n/a
18	chr1:71694460-71694510	H1-hESC	embryonic stem cell:	embryo
19	chr1:72302970-72303020	NHBE	bronchial:	n/a
20	chr1:72302970-72303020	GM12891	blood:	n/a
21	chr1:71830814-71830864	HAEpiC	amniotic membrane:	n/a
22	chr1:72302970-72303020	MCF10A-Er-Src	breast:	n/a
23	chr1:71904426-71904476	AoSMC	blood vessel:	n/a
24	chr1:71694460-71694510	MCF10A-Er-Src	breast:	n/a
25	chr1:72302970-72303020	HRE	kidney:	n/a
26	chr1:72058414-72058464	HRCEpiC	kidney:	n/a
27	chr1:72058414-72058464	AG04450	lung:	fetal
28	chr1:71694460-71694510	AoSMC	blood vessel:	n/a
29	chr1:71830814-71830864	SAEC	small airway:	n/a
30	chr1:71830814-71830864	HL-60	blood:	n/a
31	chr1:71929976-71930026	AG04450	lung:	fetal
32	chr1:71904426-71904476	U87	brain:	n/a
33	chr1:72190606-72190656	SAEC	small airway:	n/a
34	chr1:72302970-72303020	NT2-D1	testis:	n/a
35	chr1:72058414-72058464	GM06990	blood:	n/a
36	chr1:72302970-72303020	HCF	heart:	n/a
37	chr1:72190606-72190656	SK-N-SH_RA	brain:	n/a
38	chr1:72190606-72190656	Caco-2	colon:	n/a
39	chr1:71904426-71904476	AG09309	skin:	n/a
40	chr1:72058414-72058464	NH-A	brain:	n/a
41	chr1:72058414-72058464	Caco-2	colon:	n/a
42	chr1:72190606-72190656	Hepatocyte	liver:	n/a
43	chr1:72302970-72303020	ECC-1	luminal epithelium:	n/a
44	chr1:71694460-71694510	RPTEC	kidney:	n/a
45	chr1:71929976-71930026	HNPCEpiC	eye:	n/a
46	chr1:72302970-72303020	GM06990	blood:	n/a
47	chr1:71904426-71904476	NH-A	brain:	n/a
48	chr1:72302970-72303020	NHDF-neo	bronchial:	n/a
49	chr1:71904426-71904476	GM06990	blood:	n/a
50	chr1:71929976-71930026	SK-N-SH	brain:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:71914037..71914921-chr1:71926795..71927704,3	MCF-7	breast:
2	chr1:71662166..71663092-chr1:71987067..71987944,4	MCF-7	breast:
3	chr1:71885933..71887641-chr1:71889181..71890999,2	K562	blood:
4	chr1:71926381..71928732-chr1:71944427..71946345,2	K562	blood:
5	chr1:71920535..71922572-chr1:71923828..71926094,2	MCF-7	breast:
6	chr1:71914108..71914677-chr16:85554351..85554911,2	MCF-7	breast:
7	chr1:71914181..71914987-chr1:71994857..71995392,2	MCF-7	breast:
8	chr1:71662550..71665187-chr1:71831887..71834481,2	K562	blood:
9	chr1:71941950..71944127-chr1:71948756..71950368,2	K562	blood:
10	chr1:72187008..72189556-chr1:72189903..72192438,2	MCF-7	breast:
11	chr1:71924869..71926479-chr1:71926979..71928831,2	MCF-7	breast:
12	chr1:71662166..71663092-chr1:71987067..71987944,4	MCF-7	breast:
13	chr1:71913901..71916757-chr1:71917212..71919277,2	K562	blood:
14	chr1:72129396..72131726-chr1:72132350..72134861,2	K562	blood:
15	chr1:71662113..71662902-chr1:72053492..72054309,2	MCF-7	breast:
16	chr1:71999742..72002338-chr1:72004237..72006928,2	K562	blood:
17	chr1:72210098..72212560-chr1:72216356..72218852,2	K562	blood:
18	chr1:72161617..72164423-chr1:72171650..72174212,2	MCF-7	breast:
19	chr1:71662232..71663221-chr1:71987100..71987819,3	MCF-7	breast:
20	chr1:72142368..72144115-chr1:72151008..72153823,2	K562	blood:
21	chr1:72129396..72131726-chr1:72132350..72134861,2	K562	blood:
22	chr1:71662232..71663221-chr1:71987100..71987819,3	MCF-7	breast:
23	chr1:72210098..72212560-chr1:72216356..72218852,2	K562	blood:
24	chr1:71662113..71662902-chr1:72053492..72054309,2	MCF-7	breast:
25	chr1:71914328..71914976-chr1:71927298..71927813,2	MCF-7	breast:
26	chr1:71672123..71674312-chr1:71679982..71682274,2	K562	blood:
27	chr1:71914181..71914987-chr1:71994857..71995392,2	MCF-7	breast:
28	chr1:72053665..72054637-chr1:72503102..72503767,2	MCF-7	breast:
29	chr1:71942559..71944248-chr1:71944744..71947074,2	MCF-7	breast:
30	chr1:71915989..71918426-chr1:72103464..72106010,2	K562	blood:
31	chr1:71672123..71674312-chr1:71679982..71682274,2	K562	blood:
32	chr1:71654729..71657445-chr1:71668068..71670402,2	K562	blood:
33	chr1:72161617..72164423-chr1:72171650..72174212,2	MCF-7	breast:
34	chr1:71914328..71914851-chr1:71927223..71927813,2	MCF-7	breast:
35	chr1:72166413..72168725-chr1:72192259..72193957,2	K562	blood:
36	chr1:71914037..71914921-chr1:71926795..71927704,3	MCF-7	breast:
37	chr1:71654729..71657445-chr1:71668068..71670402,2	K562	blood:
38	chr1:71650900..71653329-chr1:71661783..71664278,2	K562	blood:
39	chr1:72142368..72144115-chr1:72151008..72153823,2	K562	blood:
40	chr1:71924869..71926479-chr1:71926979..71928831,2	MCF-7	breast:
41	chr1:71999742..72002338-chr1:72004237..72006928,2	K562	blood:
42	chr1:72187008..72189556-chr1:72189903..72192438,2	MCF-7	breast:
43	chr1:71545214..71547722-chr1:71720590..71722886,2	K562	blood:
44	chr1:71941950..71944127-chr1:71948756..71950368,2	K562	blood:
45	chr1:71920535..71922572-chr1:71923828..71926094,2	MCF-7	breast:
46	chr1:71885933..71887641-chr1:71889181..71890999,2	K562	blood:
47	chr1:71913901..71916757-chr1:71917212..71919277,2	K562	blood:
48	chr1:71914328..71914976-chr1:71927298..71927813,2	MCF-7	breast:
49	chr1:71915989..71918426-chr1:72103464..72106010,2	K562	blood:
50	chr1:71941193..71943663-chr1:71947061..71948900,2	K562	blood:

(count:87 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-6	chr1:71667718-71667814	ENSG00000229956.5
2	lnc-CTH-6	chr1:71669495-71669603	ENSG00000229956.5
3	lnc-CTH-6	chr1:71702813-71703069	ENSG00000229956.5
4	lnc-CTH-6	chr1:71938265-71938324	ENSG00000229956.5
5	lnc-ZRANB2-1	chr1:72302663-72302695	ENSG00000228853.1
6	lnc-CTH-6	chr1:71664550-71664674	ENSG00000229956.5
7	lnc-CTH-6	chr1:71688740-71688797	ENSG00000229956.5
8	lnc-CTH-6	chr1:71873304-71873367	ENSG00000229956.5
9	lnc-CTH-6	chr1:71669495-71669603	ENSG00000229956
10	lnc-CTH-6	chr1:71688740-71688797	ENSG00000229956
11	lnc-CTH-6	chr1:71668031-71668105	ENSG00000229956.5
12	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
13	lnc-CTH-6	chr1:71929014-71929208	ENSG00000229956.5
14	lnc-CTH-6	chr1:71702813-71702878	ENSG00000229956.5
15	lnc-ZRANB2-1	chr1:72263758-72263953	ENSG00000228853.1
16	lnc-CTH-6	chr1:71950469-71950519	ENSG00000229956.5
17	lnc-CTH-6	chr1:71887053-71887155	ENSG00000229956.5
18	lnc-CTH-6	chr1:71830721-71830882	ENSG00000229956.5
19	lnc-CTH-6	chr1:71938265-71938324	ENSG00000229956.5
20	lnc-CTH-6	chr1:71873327-71873498	ENSG00000229956.5
21	lnc-CTH-7	chr1:72036639-72036683	ENSG00000231985.1
22	lnc-CTH-6	chr1:71952081-71952217	ENSG00000229956.5
23	lnc-CTH-6	chr1:71873304-71873341	ENSG00000229956.5
24	lnc-CTH-6	chr1:71950469-71950519	ENSG00000229956.5
25	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
26	lnc-CTH-6	chr1:71867405-71867562	ENSG00000229956.5
27	lnc-CTH-6	chr1:71688740-71688797	ENSG00000229956.2
28	lnc-CTH-6	chr1:71659386-71659411	NONHSAT003893
29	lnc-CTH-6	chr1:71673864-71673979	ENSG00000229956.5
30	lnc-CTH-6	chr1:71873316-71873554	ENSG00000229956.5
31	lnc-CTH-6	chr1:71955391-71955652	ENSG00000229956.5
32	lnc-CTH-6	chr1:71833738-71833771	ENSG00000229956.2
33	lnc-CTH-6	chr1:71933967-71934193	ENSG00000229956.5
34	lnc-ZRANB2-1	chr1:72259915-72260219	ENSG00000228853.1
35	lnc-CTH-6	chr1:71929014-71929184	ENSG00000229956.2
36	lnc-CTH-6	chr1:71667718-71667814	ENSG00000229956
37	lnc-CTH-6	chr1:71702813-71702878	ENSG00000229956.5
38	lnc-CTH-6	chr1:71888187-71888658	ENSG00000229956.5
39	lnc-CTH-6	chr1:71873327-71873498	ENSG00000229956.5
40	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
41	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
42	lnc-CTH-6	chr1:71888187-71888658	ENSG00000229956.5
43	lnc-CTH-7	chr1:72039117-72039241	ENSG00000231985.1
44	lnc-CTH-6	chr1:71770042-71770098	ENSG00000229956.5
45	lnc-CTH-6	chr1:71953674-71953831	ENSG00000229956.5
46	lnc-CTH-6	chr1:71668701-71668776	ENSG00000229956.5
47	lnc-CTH-6	chr1:71952081-71952751	ENSG00000229956.5
48	lnc-CTH-6	chr1:71874622-71874694	ENSG00000229956.5
49	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
50	lnc-CTH-6	chr1:71867782-71868254	ENSG00000229956.5

No data

Variant related genes	Relation type
NEGR1-IT1	TF binding region
ENSG00000226324	TF binding region
ZRANB2-AS2	TF binding region
ENSG00000231985	TF binding region
NEGR1	TF binding region
ENSG00000237726	TF binding region
ENSG00000271618	TF binding region
NEGR1-IT1	CpG island
ENSG00000226324	CpG island
ZRANB2-AS2	CpG island
ENSG00000231985	CpG island
NEGR1	CpG island
ENSG00000237726	CpG island
ENSG00000271618	CpG island
ENSG00000229956	chromatin interactions
ENSG00000226324	chromatin interactions
ENSG00000050628	chromatin interactions
ENSG00000132485	chromatin interactions
CDK19	miRNA target sites
C5orf30	miRNA target sites
ZFYVE16	miRNA target sites
PECI	miRNA target sites
EAF1	miRNA target sites
PPP1R9A	miRNA target sites
SAR1A	miRNA target sites
UBR3	miRNA target sites
SSFA2	miRNA target sites
TIAL1	miRNA target sites

Extended variants
information (count: 14861 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:14861 , 50 per page) page: 1 2 3 4 5 6 7 ... 298

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60491803	chr1:71658601-71658602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372695512	chr1:71658608-71658609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569392942	chr1:71658621-71658622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538292460	chr1:71658716-71658717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146503613	chr1:71658743-71658744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565858479	chr1:71658779-71658780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534872409	chr1:71658801-71658802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554813349	chr1:71658833-71658834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574725998	chr1:71658842-71658843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543620980	chr1:71658862-71658863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556728421	chr1:71658880-71658881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2796200	chr1:71658888-71658889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs545093014	chr1:71658894-71658895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77226566	chr1:71658936-71658937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527983782	chr1:71658938-71658939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541363546	chr1:71659016-71659017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543450003	chr1:71659046-71659047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565321654	chr1:71659242-71659243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561240095	chr1:71659273-71659274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530261068	chr1:71659332-71659333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549948106	chr1:71659336-71659337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17090925	chr1:71659352-71659353	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532206522	chr1:71659406-71659407	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs551889307	chr1:71659411-71659412	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs565630070	chr1:71659442-71659443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144957987	chr1:71659494-71659495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112932343	chr1:71659528-71659529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76817910	chr1:71659536-71659537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371928018	chr1:71659558-71659559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568345941	chr1:71659575-71659576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140490095	chr1:71659590-71659591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184304480	chr1:71659594-71659595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373135229	chr1:71659612-71659613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561763562	chr1:71659669-71659670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576460323	chr1:71659833-71659834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539081253	chr1:71659837-71659838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558770329	chr1:71659853-71659854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572447262	chr1:71659864-71659865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541007917	chr1:71659868-71659869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561283045	chr1:71659869-71659870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547735612	chr1:71659902-71659903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559554027	chr1:71659913-71659914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189664772	chr1:71659917-71659918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35493459	chr1:71659954-71659955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370814622	chr1:71659970-71659971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532118944	chr1:71660016-71660017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192835597	chr1:71660073-71660074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559181466	chr1:71660119-71660120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2639329	chr1:71660120-71660121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548173304	chr1:71660174-71660175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Epilepsy	20502679	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Williams Syndrome	20824207	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD

Chromatin state (count:1379 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71658600-71659000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:71658600-71659200	Enhancers	Ovary	ovary
3	chr1:71658800-71659200	Enhancers	Colon Smooth Muscle	Colon
4	chr1:71658800-71659200	Enhancers	Left Ventricle	heart
5	chr1:71659000-71659400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:71659000-71659400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:71659000-71663000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:71659200-71660000	Weak transcription	Ovary	ovary
9	chr1:71659400-71663000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:71660000-71660200	Enhancers	Ovary	ovary
11	chr1:71663000-71663400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:71663000-71663600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:71665600-71672400	Weak transcription	Pancreas	Pancrea
14	chr1:71666000-71666800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:71666800-71667400	Enhancers	Brain Hippocampus Middle	brain
16	chr1:71671800-71672200	Enhancers	Dnd41	blood
17	chr1:71672400-71672600	Enhancers	Pancreas	Pancrea
18	chr1:71675800-71676200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:71689400-71691200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:71693600-71695400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:71693600-71695400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:71693800-71694000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:71693800-71695000	Enhancers	Fetal Brain Female	brain
24	chr1:71693800-71695400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:71694000-71694600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:71694000-71695000	Bivalent Enhancer	Fetal Heart	heart
27	chr1:71694000-71697000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:71694200-71694400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:71694200-71694600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr1:71694200-71695000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:71694200-71695200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:71694400-71694600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr1:71694400-71695000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:71694600-71694800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:71694600-71694800	Active TSS	Right Ventricle	heart
36	chr1:71694600-71695000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:71694600-71695000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:71694600-71695000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr1:71694600-71695000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr1:71694600-71695000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:71694600-71695000	Enhancers	Left Ventricle	heart
42	chr1:71694800-71695000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr1:71694800-71695000	Flanking Active TSS	Right Ventricle	heart
44	chr1:71695000-71695200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr1:71695000-71695400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:71695000-71695400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:71695000-71697800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:71695000-71697800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:71695000-71698400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:71695200-71697600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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