Variant report

Variant	esv2759836
Chromosome Location	chr11:71363639-71657576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4849)
CpG islands
(count:4031)
Chromatin interactive
region (count:61)
LncRNA
region (count:36)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4849 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:71417122-71417426	K562	blood:	n/a	n/a
2	ARID3A	chr11:71410234-71410262	K562	blood:	n/a	n/a
3	ARID3A	chr11:71657418-71657582	K562	blood:	n/a	n/a
4	ARID3A	chr11:71423994-71424313	K562	blood:	n/a	n/a
5	ARID3A	chr11:71416385-71416810	K562	blood:	n/a	n/a
6	ARID3A	chr11:71454526-71454806	K562	blood:	n/a	n/a
7	ARID3A	chr11:71599388-71599657	HepG2	liver:	n/a	n/a
8	ARID3A	chr11:71639468-71640173	HepG2	liver:	n/a	n/a
9	ARID3A	chr11:71639348-71640018	K562	blood:	n/a	chr11:71639465-71639480
10	ARID3A	chr11:71475957-71476045	K562	blood:	n/a	n/a
11	ARID3A	chr11:71499570-71499575	HepG2	liver:	n/a	n/a
12	ARID3A	chr11:71511545-71511692	K562	blood:	n/a	n/a
13	ARID3A	chr11:71460269-71460401	K562	blood:	n/a	n/a
14	ARID3A	chr11:71423449-71423649	K562	blood:	n/a	n/a
15	ATF1	chr11:71475791-71476199	K562	blood:	n/a	n/a
16	ATF1	chr11:71454569-71454834	K562	blood:	n/a	n/a
17	ATF1	chr11:71511476-71511666	K562	blood:	n/a	n/a
18	ATF1	chr11:71430611-71430715	K562	blood:	n/a	n/a
19	ATF1	chr11:71575242-71575395	K562	blood:	n/a	n/a
20	ATF1	chr11:71483232-71483430	K562	blood:	n/a	n/a
21	ATF1	chr11:71417251-71417305	K562	blood:	n/a	n/a
22	ATF2	chr11:71642069-71642876	GM12878	blood:	n/a	n/a
23	ATF2	chr11:71639086-71640064	GM12878	blood:	n/a	n/a
24	ATF2	chr11:71639122-71640333	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr11:71639325-71640324	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr11:71639057-71640222	GM12878	blood:	n/a	n/a
27	ATF2	chr11:71641549-71641973	GM12878	blood:	n/a	n/a
28	ATF2	chr11:71642138-71642547	GM12878	blood:	n/a	n/a
29	ATF2	chr11:71540829-71541073	GM12878	blood:	n/a	n/a
30	ATF3	chr11:71656218-71656843	A549	lung:	n/a	n/a
31	ATF3	chr11:71390992-71391254	K562	blood:	n/a	n/a
32	ATF3	chr11:71656208-71656778	A549	lung:	n/a	n/a
33	ATF3	chr11:71575077-71575386	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF3	chr11:71639455-71640390	A549	lung:	n/a	chr11:71640002-71640011
35	ATF3	chr11:71575100-71575329	K562	blood:	n/a	n/a
36	ATF3	chr11:71511454-71511674	GM12878	blood:	n/a	n/a
37	ATF3	chr11:71511455-71511719	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF3	chr11:71416472-71416725	K562	blood:	n/a	n/a
39	BACH1	chr11:71421452-71421711	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr11:71639352-71639809	K562	blood:	n/a	n/a
41	BACH1	chr11:71638975-71640313	H1-hESC	embryonic stem cell:	n/a	n/a
42	BATF	chr11:71527794-71528002	GM12878	blood:	n/a	chr11:71527879-71527890
43	BATF	chr11:71425014-71425933	GM12878	blood:	n/a	n/a
44	BATF	chr11:71503748-71504008	GM12878	blood:	n/a	n/a
45	BATF	chr11:71496443-71496643	GM12878	blood:	n/a	n/a
46	BATF	chr11:71428825-71429020	GM12878	blood:	n/a	chr11:71428919-71428927
47	BATF	chr11:71445512-71445867	GM12878	blood:	n/a	n/a
48	BATF	chr11:71398772-71399069	GM12878	blood:	n/a	n/a
49	BATF	chr11:71532357-71532883	GM12878	blood:	n/a	n/a
50	BATF	chr11:71428726-71429101	GM12878	blood:	n/a	chr11:71428919-71428927

(count:4031 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71462582-71462632	ovcar-3	ovarian:	n/a
2	chr11:71639548-71639598	HL-60	blood:	n/a
3	chr11:71597171-71597221	MCF10A-Er-Src	breast:	n/a
4	chr11:71457160-71457210	H1-hESC	embryonic stem cell:	embryo
5	chr11:71456947-71456997	BE2_C	brain:	n/a
6	chr11:71462582-71462632	ovcar-3	ovarian:	n/a
7	chr11:71639548-71639598	HL-60	blood:	n/a
8	chr11:71597171-71597221	MCF10A-Er-Src	breast:	n/a
9	chr11:71457160-71457210	H1-hESC	embryonic stem cell:	embryo
10	chr11:71456947-71456997	BE2_C	brain:	n/a
11	chr11:71456947-71456997	HCPEpiC	choroid plexus:	n/a
12	chr11:71420485-71420535	ovcar-3	ovarian:	n/a
13	chr11:71524734-71524784	GM19239	blood:	n/a
14	chr11:71499117-71499167	HRCEpiC	kidney:	n/a
15	chr11:71462149-71462199	PFSK-1	brain:	n/a
16	chr11:71639548-71639598	IMR90	lung:	fetal
17	chr11:71639806-71639856	SAEC	small airway:	n/a
18	chr11:71499006-71499056	HepG2	liver:	n/a
19	chr11:71421279-71421329	HRE	kidney:	n/a
20	chr11:71619703-71619753	HL-60	blood:	n/a
21	chr11:71417713-71417763	AG10803	skin:	n/a
22	chr11:71639070-71639120	HIPEpiC	eye:	n/a
23	chr11:71639594-71639644	GM12878	blood:	n/a
24	chr11:71499117-71499167	HNPCEpiC	eye:	n/a
25	chr11:71498715-71498765	Hela-S3	cervix:	n/a
26	chr11:71511486-71511536	CMK	blood:	n/a
27	chr11:71498202-71498252	HCF	heart:	n/a
28	chr11:71421279-71421329	ovcar-3	ovarian:	n/a
29	chr11:71522461-71522511	NHBE	bronchial:	n/a
30	chr11:71417657-71417707	HepG2	liver:	n/a
31	chr11:71640837-71640887	HCF	heart:	n/a
32	chr11:71418204-71418254	BJ	skin:	n/a
33	chr11:71524540-71524590	GM12892	blood:	n/a
34	chr11:71639526-71639576	HRCEpiC	kidney:	n/a
35	chr11:71618372-71618422	SAEC	small airway:	n/a
36	chr11:71600961-71601011	AG10803	skin:	n/a
37	chr11:71656425-71656475	HRE	kidney:	n/a
38	chr11:71498202-71498252	BJ	skin:	n/a
39	chr11:71639594-71639644	SAEC	small airway:	n/a
40	chr11:71522461-71522511	NH-A	brain:	n/a
41	chr11:71497688-71497738	CMK	blood:	n/a
42	chr11:71554504-71554554	AG04449	skin:	fetal
43	chr11:71601069-71601119	HCM	heart:	n/a
44	chr11:71420485-71420535	NT2-D1	testis:	n/a
45	chr11:71640837-71640887	BE2_C	brain:	n/a
46	chr11:71418204-71418254	PFSK-1	brain:	n/a
47	chr11:71499117-71499167	GM12878	blood:	n/a
48	chr11:71511486-71511536	Hela-S3	cervix:	n/a
49	chr11:71485830-71485880	BE2_C	brain:	n/a
50	chr11:71524971-71525021	CMK	blood:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:71638377..71641678-chr11:71642670..71653439,17	MCF-7	breast:
2	chr11:71631819..71635805-chr11:71636092..71639604,4	K562	blood:
3	chr11:71653405..71656260-chr11:71657576..71659642,2	MCF-7	breast:
4	chr11:71627755..71629662-chr11:71636576..71639154,2	MCF-7	breast:
5	chr11:67572484..67573077-chr11:71498421..71498985,2	HCT-116	colon:
6	chr11:71643289..71645495-chr11:71647071..71649029,3	K562	blood:
7	chr11:71628907..71631334-chr11:71636538..71639509,2	K562	blood:
8	chr11:71637669..71642330-chr11:71642595..71645155,5	K562	blood:
9	chr11:71657360..71659144-chr11:71661756..71664920,3	MCF-7	breast:
10	chr11:71641032..71643202-chr11:71658397..71660024,2	MCF-7	breast:
11	chr11:71642846..71644455-chr11:71663991..71666821,2	MCF-7	breast:
12	chr11:71639162..71640098-chr9:139980826..139981643,2	Hela-S3	cervix:
13	chr11:71637612..71641494-chr11:71650147..71652866,4	K562	blood:
14	chr11:71638287..71640361-chr11:71821333..71824174,2	MCF-7	breast:
15	chr11:71642632..71644871-chr11:71645034..71646537,2	K562	blood:
16	chr11:71642632..71644871-chr11:71645034..71646537,2	K562	blood:
17	chr11:71631417..71633807-chr11:71649240..71651743,2	K562	blood:
18	chr11:71502585..71504558-chr11:71523085..71525009,2	MCF-7	breast:
19	chr11:71641143..71643109-chr11:71654078..71656466,2	MCF-7	breast:
20	chr11:71644522..71646628-chr11:71653948..71656589,2	MCF-7	breast:
21	chr11:71499803..71501328-chr11:71502237..71504426,2	K562	blood:
22	chr11:71650756..71652380-chr11:71654533..71657023,3	K562	blood:
23	chr11:71638377..71641678-chr11:71642670..71653439,17	MCF-7	breast:
24	chr11:71656826..71659679-chr11:71666200..71668155,2	K562	blood:
25	chr11:71638884..71640864-chr11:71694581..71697460,2	K562	blood:
26	chr11:71489714..71493464-chr11:71497648..71499552,3	MCF-7	breast:
27	chr11:71648762..71653405-chr11:71655542..71658221,6	MCF-7	breast:
28	chr11:71649689..71653296-chr11:71656183..71659573,4	MCF-7	breast:
29	chr11:71349980..71350709-chr11:71511135..71512071,2	K562	blood:
30	chr11:71625390..71628859-chr11:71630770..71634219,4	K562	blood:
31	chr11:71654518..71657892-chr11:71675208..71678197,3	MCF-7	breast:
32	chr11:71637727..71640735-chr11:71691994..71694781,3	MCF-7	breast:
33	chr11:71638735..71640486-chr11:71646318..71648217,2	K562	blood:
34	chr11:71650447..71653924-chr11:71657560..71661211,3	K562	blood:
35	chr11:71643289..71645495-chr11:71647071..71649029,3	K562	blood:
36	chr11:71654014..71655958-chr11:71656574..71658856,2	MCF-7	breast:
37	chr11:71628907..71631334-chr11:71636538..71639509,2	K562	blood:
38	chr11:3442224..3443750-chr11:71497854..71499382,2	MCF-7	breast:
39	chr11:71650756..71652380-chr11:71654533..71657023,3	K562	blood:
40	chr11:71653405..71656260-chr11:71657576..71659642,2	MCF-7	breast:
41	chr11:71498340..71499087-chr19:18391666..18392636,2	Hela-S3	cervix:
42	chr11:71644522..71646628-chr11:71653948..71656589,2	MCF-7	breast:
43	chr11:71656412..71659120-chr11:71824408..71826412,2	MCF-7	breast:
44	chr11:71627212..71629834-chr11:71654212..71656346,2	MCF-7	breast:
45	chr11:71639007..71647132-chr11:71654924..71662463,14	MCF-7	breast:
46	chr11:71656068..71658326-chr11:71664817..71667700,2	K562	blood:
47	chr11:71499803..71501328-chr11:71502237..71504426,2	K562	blood:
48	chr11:71498107..71498639-chr3:75483883..75484386,2	Hela-S3	cervix:
49	chr11:71641708..71644005-chr11:71683990..71686747,2	MCF-7	breast:
50	chr11:71631302..71634139-chr11:71636145..71640575,4	MCF-7	breast:

(count:36 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM86C1-5	chr11:71392883-71393202	expRegAs_chr11_7367_+
2	lnc-RP11-849H4.2.1-1	chr11:71517696-71518702	NONHSAT022713
3	lnc-DEFB108B-2	chr11:71548445-71548756	NONHSAT022717
4	lnc-FAM86C1-1	chr11:71433219-71433273	NONHSAT022701
5	lnc-RP11-849H4.2.1-2	chr11:71650257-71650590	NONHSAT022731
6	lnc-RP11-849H4.2.1-2	chr11:71649717-71649942	NONHSAT022731
7	lnc-AP000867.1-1	chr11:71415223-71415306	ENSG00000254972
8	lnc-RP11-849H4.2.1-1	chr11:71524389-71524529	NONHSAT022713
9	lnc-DEFB108B-2	chr11:71548070-71548218	NONHSAT022717
10	lnc-NUMA1-2	chr11:71638624-71639081	NONHSAT022730
11	lnc-FAM86C1-3	chr11:71394183-71394998	expRegAs_chr11_7373_+
12	lnc-AP000867.1-2	chr11:71383721-71384047	ENSG00000254504.1
13	lnc-DEFB108B-1	chr11:71589499-71589564	NONHSAT022724
14	lnc-DEFB108B-1	chr11:71595455-71595604	NONHSAT022724
15	lnc-NUMA1-2	chr11:71639411-71639493	NONHSAT022730
16	lnc-NUMA1-1	chr11:71589418-71589551	XLOC_009494
17	lnc-RP11-849H4.2.1-1	chr11:71529199-71529284	ENSG00000248671.3
18	lnc-DEFB108B-2	chr11:71545758-71545904	NONHSAT022717
19	lnc-AP000867.1-1	chr11:71412314-71412531	ENSG00000254972
20	lnc-AP000867.1-2	chr11:71421533-71421627	ENSG00000254504.1
21	lnc-FAM86C1-1	chr11:71425421-71425604	NONHSAT022701
22	lnc-RNF121-4	chr11:71616061-71616314	expReg_chr11_7442_+
23	lnc-FAM86C1-1	chr11:71422786-71422863	NONHSAT022701
24	lnc-DEFB108B-1	chr11:71580800-71580844	XLOC_009200
25	lnc-RNF121-3	chr11:71616316-71616568	expReg_chr11_7443_+
26	lnc-FAM86C1-4	chr11:71393417-71393825	expRegAs_chr11_7370_+
27	lnc-RP11-849H4.2.1-1	chr11:71518637-71518702	ENSG00000248671.3
28	lnc-AP000867.1-1	chr11:71416406-71416450	ENSG00000254972
29	lnc-NUMA1-1	chr11:71581076-71581470	XLOC_009494
30	lnc-FAM86C1-2	chr11:71395710-71396117	expRegAs_chr11_7374_+
31	lnc-RP11-849H4.2.1-1	chr11:71527956-71528142	ENSG00000248671.3
32	lnc-DEFB108B-1	chr11:71595453-71596531	XLOC_009200
33	lnc-DEFB108B-1	chr11:71578414-71578614	XLOC_009200
34	lnc-NUMA1-3	chr11:71627372-71627854	predAs_chen_BG236320_1
35	lnc-AP000867.1-4	chr11:71401499-71401703	NONHSAT022697
36	lnc-RNF121-6	chr11:71612764-71612976	expReg_chr11_7433_+

No data

Variant related genes	Relation type
OR7E128P	TF binding region
ENSG00000254469	TF binding region
ENSG00000225805	TF binding region
ENSG00000248671	TF binding region
ENSG00000266859	TF binding region
ZNF705E	TF binding region
ENSG00000255157	TF binding region
ENSG00000264091	TF binding region
ENSG00000254805	TF binding region
ALG1L9P	TF binding region
ENPP7P8	TF binding region
ENSG00000221458	TF binding region
RNF121	TF binding region
DEFB108B	TF binding region
FAM86C1	TF binding region
ENSG00000223235	TF binding region
ENSG00000254972	TF binding region
RNA5SP342	TF binding region
OR7E126P	TF binding region
ENSG00000255296	TF binding region
RPS3AP41	TF binding region
OR7E128P	CpG island
ENSG00000254469	CpG island
ENSG00000225805	CpG island
ENSG00000248671	CpG island
ENSG00000266859	CpG island
ZNF705E	CpG island
ENSG00000255157	CpG island
ENSG00000264091	CpG island
ENSG00000254805	CpG island
ALG1L9P	CpG island
ENPP7P8	CpG island
ENSG00000221458	CpG island
RNF121	CpG island
DEFB108B	CpG island
FAM86C1	CpG island
ENSG00000223235	CpG island
ENSG00000254972	CpG island
RNA5SP342	CpG island
OR7E126P	CpG island
ENSG00000255296	CpG island
RPS3AP41	CpG island
ENSG00000244026	chromatin interactions
ENSG00000110200	chromatin interactions
ENSG00000255296	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000177239	chromatin interactions
ENSG00000158483	chromatin interactions
ENSG00000166492	chromatin interactions
ENSG00000254469	chromatin interactions
ENSG00000137497	chromatin interactions
ENSG00000118894	chromatin interactions
ENSG00000268996	chromatin interactions
ENSG00000137522	chromatin interactions
ENSG00000248671	chromatin interactions
ENSG00000110203	chromatin interactions
ENSG00000184154	chromatin interactions
ENSG00000160172	chromatin interactions
OR11A1	miRNA target sites
KIAA1217	miRNA target sites

Extended variants
information (count: 14554 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:14554 , 50 per page) page: 1 2 3 4 5 6 7 ... 292

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186608555	chr11:71363661-71363662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574730436	chr11:71363669-71363670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569964450	chr11:71363673-71363674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9737430	chr11:71363706-71363707	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376040684	chr11:71363720-71363721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369162567	chr11:71363721-71363722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573600532	chr11:71363753-71363754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115220116	chr11:71363768-71363769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553016488	chr11:71363778-71363779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577693391	chr11:71363810-71363811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192760882	chr11:71363819-71363820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557968693	chr11:71363837-71363838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576288997	chr11:71363852-71363853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543710687	chr11:71363858-71363859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151273173	chr11:71363873-71363874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78124304	chr11:71363875-71363876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564656647	chr11:71363880-71363881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559779378	chr11:71363889-71363890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533514034	chr11:71363898-71363899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532264254	chr11:71363978-71363979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139364744	chr11:71363988-71363989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184744876	chr11:71363992-71363993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549272454	chr11:71364005-71364006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567483202	chr11:71364014-71364015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374361881	chr11:71364017-71364018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534588892	chr11:71364052-71364053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377370808	chr11:71364060-71364061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552739376	chr11:71364083-71364084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370406629	chr11:71364098-71364099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571308886	chr11:71364134-71364135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112620575	chr11:71364189-71364190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145700848	chr11:71364240-71364241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367554405	chr11:71364266-71364267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576251967	chr11:71364283-71364284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543674851	chr11:71364329-71364330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181609370	chr11:71364330-71364331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574283164	chr11:71364356-71364357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184515117	chr11:71364426-71364427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559531456	chr11:71364438-71364439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533417290	chr11:71364448-71364449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545538113	chr11:71364450-71364451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189616719	chr11:71364497-71364498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs202155836	chr11:71364504-71364505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548933048	chr11:71364516-71364517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181871820	chr11:71364547-71364548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528414775	chr11:71364552-71364553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185411066	chr11:71364567-71364568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570914717	chr11:71364568-71364569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190931964	chr11:71364569-71364570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556653739	chr11:71364606-71364607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Ovarian cancer	21781307	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:2971 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71354000-71366400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr11:71359800-71367600	Weak transcription	Fetal Intestine Small	intestine
3	chr11:71360400-71373000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:71363600-71364600	Enhancers	GM12878-XiMat	blood
5	chr11:71366400-71366800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr11:71366400-71367800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:71367200-71367400	Enhancers	Fetal Intestine Large	intestine
8	chr11:71367200-71367800	Enhancers	A549	lung
9	chr11:71367400-71367600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:71367600-71368000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:71367600-71368200	Enhancers	Fetal Intestine Small	intestine
12	chr11:71368000-71368200	Enhancers	Fetal Intestine Large	intestine
13	chr11:71368200-71395600	Weak transcription	Fetal Intestine Small	intestine
14	chr11:71385800-71386000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr11:71394000-71396800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:71395600-71396200	Enhancers	Fetal Intestine Large	intestine
17	chr11:71395600-71396200	Enhancers	Fetal Intestine Small	intestine
18	chr11:71396200-71396400	Weak transcription	Fetal Intestine Large	intestine
19	chr11:71396200-71398000	Active TSS	Fetal Intestine Small	intestine
20	chr11:71396400-71398000	Active TSS	Fetal Intestine Large	intestine
21	chr11:71396800-71404000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:71400200-71400600	Enhancers	K562	blood
23	chr11:71400600-71403400	Weak transcription	K562	blood
24	chr11:71403400-71403600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:71403400-71404400	Enhancers	K562	blood
26	chr11:71404000-71404800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:71404200-71404400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:71404200-71404600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr11:71404200-71405000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr11:71404400-71404800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr11:71404800-71409200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:71406400-71411400	Weak transcription	Fetal Intestine Small	intestine
33	chr11:71409200-71409800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:71409800-71411400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:71411400-71412400	Enhancers	Fetal Intestine Small	intestine
36	chr11:71411400-71412600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:71411400-71412600	Enhancers	Fetal Intestine Large	intestine
38	chr11:71412400-71413200	Weak transcription	Fetal Intestine Small	intestine
39	chr11:71413200-71415800	ZNF genes & repeats	Fetal Intestine Small	intestine
40	chr11:71414800-71416000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:71415400-71415600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:71415400-71416000	Enhancers	K562	blood
43	chr11:71415400-71416400	Enhancers	Fetal Intestine Large	intestine
44	chr11:71415600-71416200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:71415800-71416000	Weak transcription	Fetal Intestine Small	intestine
46	chr11:71416000-71416400	Flanking Active TSS	K562	blood
47	chr11:71416000-71416600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:71416000-71417000	Enhancers	Fetal Intestine Small	intestine
49	chr11:71416200-71416400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:71416400-71417400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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