Variant report

Variant	nsv832212
Chromosome Location	chr11:75524993-75725623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2323)
CpG islands
(count:1346)
Chromatin interactive
region (count:169)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2323 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:75607891-75608210	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:75531734-75531958	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:75525704-75525962	K562	blood:	n/a	n/a
4	ARID3A	chr11:75578851-75579162	HepG2	liver:	n/a	n/a
5	ARID3A	chr11:75524662-75525046	HepG2	liver:	n/a	n/a
6	ARID3A	chr11:75526178-75526289	K562	blood:	n/a	n/a
7	ARID3A	chr11:75525709-75526317	HepG2	liver:	n/a	n/a
8	ARID3A	chr11:75578850-75579151	K562	blood:	n/a	n/a
9	ARID3A	chr11:75524709-75525011	K562	blood:	n/a	n/a
10	ARID3A	chr11:75553097-75553208	K562	blood:	n/a	n/a
11	ATF1	chr11:75657979-75658367	K562	blood:	n/a	n/a
12	ATF1	chr11:75525805-75526290	K562	blood:	n/a	n/a
13	ATF2	chr11:75535012-75535766	GM12878	blood:	n/a	n/a
14	ATF2	chr11:75534966-75535772	GM12878	blood:	n/a	n/a
15	ATF2	chr11:75602768-75603323	GM12878	blood:	n/a	n/a
16	ATF2	chr11:75619524-75620170	GM12878	blood:	n/a	n/a
17	ATF2	chr11:75525604-75526177	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr11:75584014-75585266	GM12878	blood:	n/a	n/a
19	ATF2	chr11:75525437-75526479	GM12878	blood:	n/a	n/a
20	ATF2	chr11:75619674-75620057	GM12878	blood:	n/a	n/a
21	ATF2	chr11:75657668-75658357	GM12878	blood:	n/a	n/a
22	ATF3	chr11:75525671-75526046	K562	blood:	n/a	n/a
23	ATF3	chr11:75525663-75526325	GM12878	blood:	n/a	n/a
24	ATF3	chr11:75525650-75526264	K562	blood:	n/a	n/a
25	ATF3	chr11:75525593-75526169	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF3	chr11:75525600-75526054	HepG2	liver:	n/a	n/a
27	ATF3	chr11:75525702-75525978	GM12878	blood:	n/a	n/a
28	ATF3	chr11:75525701-75526104	K562	blood:	n/a	n/a
29	ATF3	chr11:75525628-75526070	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF3	chr11:75525709-75525982	HepG2	liver:	n/a	n/a
31	BACH1	chr11:75661955-75662107	K562	blood:	n/a	n/a
32	BACH1	chr11:75526522-75526842	H1-hESC	embryonic stem cell:	n/a	n/a
33	BATF	chr11:75584383-75585199	GM12878	blood:	n/a	n/a
34	BATF	chr11:75619655-75620120	GM12878	blood:	n/a	chr11:75619903-75619914 chr11:75619858-75619869 chr11:75619889-75619900
35	BATF	chr11:75613336-75613623	GM12878	blood:	n/a	n/a
36	BATF	chr11:75619654-75620057	GM12878	blood:	n/a	chr11:75619903-75619914 chr11:75619858-75619869 chr11:75619889-75619900
37	BATF	chr11:75636517-75636757	GM12878	blood:	n/a	n/a
38	BATF	chr11:75604406-75604655	GM12878	blood:	n/a	n/a
39	BATF	chr11:75584848-75585162	GM12878	blood:	n/a	n/a
40	BATF	chr11:75537530-75537737	GM12878	blood:	n/a	chr11:75537661-75537669
41	BATF	chr11:75584403-75584837	GM12878	blood:	n/a	n/a
42	BATF	chr11:75583968-75584354	GM12878	blood:	n/a	n/a
43	BCL11A	chr11:75535410-75535676	GM12878	blood:	n/a	chr11:75535530-75535539
44	BCL11A	chr11:75535419-75535753	GM12878	blood:	n/a	chr11:75535530-75535539
45	BCL11A	chr11:75619720-75620078	GM12878	blood:	n/a	n/a
46	BCL11A	chr11:75584419-75585119	GM12878	blood:	n/a	n/a
47	BCLAF1	chr11:75526683-75527150	GM12878	blood:	n/a	chr11:75526926-75526935
48	BCLAF1	chr11:75527555-75528257	GM12878	blood:	n/a	n/a
49	BCLAF1	chr11:75584271-75584825	GM12878	blood:	n/a	n/a
50	BCLAF1	chr11:75535046-75535785	GM12878	blood:	n/a	chr11:75535144-75535151 chr11:75535530-75535539

(count:1346 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:75678837-75678887	CMK	blood:	n/a
2	chr11:75525835-75525885	AG04450	lung:	fetal
3	chr11:75526115-75526165	HCM	heart:	n/a
4	chr11:75584802-75584852	HUVEC	blood vessel:	n/a
5	chr11:75678837-75678887	CMK	blood:	n/a
6	chr11:75525835-75525885	AG04450	lung:	fetal
7	chr11:75526115-75526165	HCM	heart:	n/a
8	chr11:75584802-75584852	HUVEC	blood vessel:	n/a
9	chr11:75525637-75525687	NB4	blood:	n/a
10	chr11:75526841-75526891	HUVEC	blood vessel:	n/a
11	chr11:75526058-75526108	HMEC	breast:	n/a
12	chr11:75526473-75526523	GM12892	blood:	n/a
13	chr11:75526058-75526108	NHDF-neo	bronchial:	n/a
14	chr11:75526013-75526063	GM12891	blood:	n/a
15	chr11:75526283-75526333	ProgFib	skin:	n/a
16	chr11:75526075-75526125	HIPEpiC	eye:	n/a
17	chr11:75526075-75526125	A549	lung:	n/a
18	chr11:75526013-75526063	ovcar-3	ovarian:	n/a
19	chr11:75526909-75526959	PrEC	prostate:	n/a
20	chr11:75526075-75526125	GM12892	blood:	n/a
21	chr11:75678837-75678887	LNCaP	prostate:	n/a
22	chr11:75526058-75526108	HCF	heart:	n/a
23	chr11:75584802-75584852	PANC-1	pancreas:	n/a
24	chr11:75525835-75525885	IMR90	lung:	fetal
25	chr11:75526909-75526959	HCPEpiC	choroid plexus:	n/a
26	chr11:75526013-75526063	MCF10A-Er-Src	breast:	n/a
27	chr11:75526473-75526523	H1-hESC	embryonic stem cell:	embryo
28	chr11:75527994-75528044	IMR90	lung:	fetal
29	chr11:75589353-75589403	Hela-S3	cervix:	n/a
30	chr11:75526013-75526063	ProgFib	skin:	n/a
31	chr11:75525835-75525885	HepG2	liver:	n/a
32	chr11:75526115-75526165	PrEC	prostate:	n/a
33	chr11:75525637-75525687	MCF10A-Er-Src	breast:	n/a
34	chr11:75589770-75589820	HCPEpiC	choroid plexus:	n/a
35	chr11:75525835-75525885	BE2_C	brain:	n/a
36	chr11:75529854-75529904	HIPEpiC	eye:	n/a
37	chr11:75584802-75584852	SK-N-SH_RA	brain:	n/a
38	chr11:75649913-75649963	HRCEpiC	kidney:	n/a
39	chr11:75525835-75525885	GM12878	blood:	n/a
40	chr11:75525637-75525687	HL-60	blood:	n/a
41	chr11:75525881-75525931	HRCEpiC	kidney:	n/a
42	chr11:75526473-75526523	AG09309	skin:	n/a
43	chr11:75529854-75529904	HEK293	kidney:	embryo
44	chr11:75525881-75525931	GM12891	blood:	n/a
45	chr11:75526473-75526523	AG04450	lung:	fetal
46	chr11:75526167-75526217	Caco-2	colon:	n/a
47	chr11:75678837-75678887	HepG2	liver:	n/a
48	chr11:75584802-75584852	Hepatocyte	liver:	n/a
49	chr11:75525761-75525811	GM12878	blood:	n/a
50	chr11:75589353-75589403	AoSMC	blood vessel:	n/a

(count:169 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr11:75538908..75540787-chr11:75559807..75562347,2	MCF-7	breast:
2	chr11:75528469..75531370-chr11:75554920..75558717,3	MCF-7	breast:
3	chr11:75524076..75526814-chr11:75530158..75532234,2	K562	blood:
4	chr11:75527688..75530896-chr11:75531829..75535250,5	K562	blood:
5	chr11:75599026..75601409-chr11:75602652..75605269,2	MCF-7	breast:
6	chr11:75525388..75527600-chr11:75527925..75530151,2	K562	blood:
7	chr11:75562361..75564351-chr11:75566715..75569531,2	K562	blood:
8	chr11:75629505..75631752-chr21:33104499..33106432,2	MCF-7	breast:
9	chr11:75519751..75521717-chr11:75552461..75554604,2	MCF-7	breast:
10	chr11:75155822..75156846-chr11:75578428..75579424,4	K562	blood:
11	chr11:75607508..75608561-chr11:76029521..76030484,5	K562	blood:
12	chr11:75529982..75533584-chr11:75534201..75537646,3	MCF-7	breast:
13	chr11:75273481..75275282-chr11:75550738..75553469,2	MCF-7	breast:
14	chr11:75699082..75701264-chr11:75707404..75708936,2	MCF-7	breast:
15	chr11:75274903..75276889-chr11:75523862..75525400,2	MCF-7	breast:
16	chr11:75258697..75259264-chr11:75578629..75579343,2	K562	blood:
17	chr11:75599406..75601050-chr11:75607902..75610678,2	MCF-7	breast:
18	chr11:75538391..75541222-chr11:75552775..75555078,2	MCF-7	breast:
19	chr11:75548004..75549807-chr11:75553811..75555700,2	K562	blood:
20	chr11:75435487..75437109-chr11:75574380..75576119,2	MCF-7	breast:
21	chr11:75479619..75482168-chr11:75525507..75528188,2	MCF-7	breast:
22	chr11:75578959..75579490-chr11:76029607..76030437,2	MCF-7	breast:
23	chr11:75550908..75553592-chr11:75563890..75565902,2	K562	blood:
24	chr11:75574297..75577262-chr11:75579536..75582781,3	K562	blood:
25	chr11:75562235..75563926-chr11:75568149..75570504,2	MCF-7	breast:
26	chr11:75676550..75678071-chr14:20809872..20811501,5	MCF-7	breast:
27	chr11:75524137..75527756-chr11:75532015..75535706,5	MCF-7	breast:
28	chr11:75523919..75526976-chr11:75573533..75576982,4	MCF-7	breast:
29	chr11:75623454..75626319-chr11:75626838..75629798,3	MCF-7	breast:
30	chr11:75525737..75528395-chr11:75541535..75543896,2	K562	blood:
31	chr11:75654690..75656388-chr11:75656892..75658413,2	MCF-7	breast:
32	chr11:75551619..75553508-chr11:75579174..75581979,3	MCF-7	breast:
33	chr11:75694721..75696566-chr11:75699250..75701587,2	K562	blood:
34	chr11:75542965..75545521-chr11:75546194..75548831,2	K562	blood:
35	chr11:75552534..75554208-chr11:75559860..75561535,2	K562	blood:
36	chr11:75525612..75528024-chr11:75562154..75564644,3	MCF-7	breast:
37	chr11:75528435..75529955-chr16:85494323..85496150,2	MCF-7	breast:
38	chr11:75519519..75522045-chr11:75539300..75541431,2	MCF-7	breast:
39	chr11:75551367..75555670-chr11:75561757..75566708,7	MCF-7	breast:
40	chr11:75513889..75514903-chr11:75578616..75580438,8	MCF-7	breast:
41	chr11:75525985..75528745-chr11:75547051..75549081,2	MCF-7	breast:
42	chr11:74203709..74204682-chr11:75526078..75526626,2	Hela-S3	cervix:
43	chr11:75524219..75527964-chr11:75564659..75570839,6	MCF-7	breast:
44	chr11:75607077..75608544-chr11:75862937..75863839,5	K562	blood:
45	chr11:75596310..75598967-chr11:75601075..75603866,2	K562	blood:
46	chr11:75538908..75540787-chr11:75559807..75562347,2	MCF-7	breast:
47	chr11:75523255..75528239-chr11:75549898..75558151,19	MCF-7	breast:
48	chr11:75551367..75555670-chr11:75561757..75566708,7	MCF-7	breast:
49	chr11:75562361..75564351-chr11:75566715..75569531,2	K562	blood:
50	chr11:75701857..75704473-chr11:75717022..75719427,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WNT11-5	chr11:75653173-75653479	NONHSAT023144
2	lnc-DGAT2-3	chr11:75694431-75694868	NONHSAT023145
3	lnc-MAP6-4	chr11:75525508-75525618	ENSG00000255507.1
4	lnc-DGAT2-3	chr11:75672507-75672593	NONHSAT023145
5	lnc-DGAT2-1	chr11:75625245-75625632	ENSG00000255081.1
6	lnc-MAP6-4	chr11:75525508-75525621	ENSG00000255507.1
7	lnc-MAP6-3	chr11:75525508-75525951	NONHSAT023136
8	lnc-DGAT2-1	chr11:75626175-75626257	ENSG00000255081.1
9	lnc-MAP6-4	chr11:75525532-75525674	ENSG00000255507.1
10	lnc-MAP6-4	chr11:75525508-75525600	ENSG00000255507.1
11	lnc-MAP6-4	chr11:75526151-75526451	ENSG00000255507.1
12	lnc-MAP6-6	chr11:75622248-75622672	NONHSAT023140
13	lnc-MAP6-4	chr11:75525508-75525842	ENSG00000255507.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	UVRAG	hsa-miR-32-5p	chr11:75672491-75672512

Variant related genes	Relation type
ENSG00000255507	TF binding region
ENSG00000255081	TF binding region
UVRAG	TF binding region
ENSG00000254915	TF binding region
ENSG00000200256	TF binding region
PPP1R1AP1	TF binding region
ENSG00000199362	TF binding region
RNA5SP344	TF binding region
ENSG00000255507	CpG island
ENSG00000255081	CpG island
UVRAG	CpG island
ENSG00000254915	CpG island
ENSG00000200256	CpG island
PPP1R1AP1	CpG island
ENSG00000199362	CpG island
RNA5SP344	CpG island
ENSG00000207445	chromatin interactions
ENSG00000175536	chromatin interactions
ENSG00000206941	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000223013	chromatin interactions
ENSG00000254837	chromatin interactions
ENSG00000255507	chromatin interactions
ENSG00000164074	chromatin interactions
ENSG00000254915	chromatin interactions
ENSG00000164073	chromatin interactions
ENSG00000077514	chromatin interactions
ENSG00000062282	chromatin interactions
ENSG00000254814	chromatin interactions
ENSG00000221909	chromatin interactions
ENSG00000158636	chromatin interactions
ENSG00000149273	chromatin interactions
ENSG00000199362	chromatin interactions
ENSG00000247867	chromatin interactions
ENSG00000149257	chromatin interactions
ENSG00000200256	chromatin interactions
ENSG00000255081	chromatin interactions
ENSG00000272647	chromatin interactions
ENSG00000197343	chromatin interactions
ENSG00000198382	chromatin interactions

Extended variants
information (count: 7339 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:7339 , 50 per page) page: 1 2 3 4 5 6 7 ... 147

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543728518	chr11:75525008-75525009	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs147385027	chr11:75525013-75525014	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs553611856	chr11:75525022-75525023	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs529061856	chr11:75525091-75525092	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs112052491	chr11:75525104-75525105	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs536231485	chr11:75525193-75525194	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs139629582	chr11:75525266-75525267	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs145221436	chr11:75525277-75525278	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs183192446	chr11:75525294-75525295	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs148052605	chr11:75525350-75525351	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs190663442	chr11:75525351-75525352	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs147626801	chr11:75525355-75525356	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs536698081	chr11:75525370-75525371	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs550843178	chr11:75525386-75525387	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs567901217	chr11:75525451-75525452	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs536823090	chr11:75525477-75525478	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs370976764	chr11:75525500-75525501	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs571714271	chr11:75525532-75525533	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
19	rs139615724	chr11:75525542-75525543	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
20	rs553309974	chr11:75525558-75525559	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
21	rs528076682	chr11:75525591-75525592	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
22	rs542231113	chr11:75525592-75525593	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
23	rs538763933	chr11:75525613-75525614	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
24	rs559134547	chr11:75525637-75525638	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
25	rs575706220	chr11:75525638-75525639	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
26	rs544644761	chr11:75525658-75525659	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
27	rs563557071	chr11:75525659-75525660	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
28	rs561054159	chr11:75525664-75525665	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
29	rs149747090	chr11:75525685-75525686	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
30	rs542762450	chr11:75525695-75525696	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
31	rs115281280	chr11:75525719-75525720	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
32	rs59929010	chr11:75525774-75525775	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551061714	chr11:75525833-75525834	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
34	rs377450768	chr11:75525838-75525839	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
35	rs149144029	chr11:75525852-75525853	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
36	rs182522286	chr11:75525854-75525855	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
37	rs550178420	chr11:75525855-75525856	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
38	rs187118267	chr11:75525919-75525920	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
39	rs370440039	chr11:75525967-75525968	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs538525760	chr11:75526044-75526045	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs192675953	chr11:75526054-75526055	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs374846591	chr11:75526098-75526099	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs547127884	chr11:75526169-75526170	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
44	rs566939300	chr11:75526182-75526183	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
45	rs143271164	chr11:75526185-75526186	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
46	rs17134356	chr11:75526190-75526191	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	mRNA abundance
47	rs575842089	chr11:75526205-75526206	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
48	rs184176263	chr11:75526212-75526213	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
49	rs554671298	chr11:75526213-75526214	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
50	rs573839746	chr11:75526235-75526236	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	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:4509 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75509000-75525200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:75509800-75525000	Weak transcription	Fetal Stomach	stomach
3	chr11:75512800-75525000	Weak transcription	Esophagus	oesophagus
4	chr11:75513000-75525200	Weak transcription	Fetal Intestine Large	intestine
5	chr11:75513400-75525000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:75513800-75525000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:75520600-75525000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:75520600-75525000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:75521400-75525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:75522000-75525200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:75522200-75525000	Weak transcription	Lung	lung
12	chr11:75522400-75525400	Weak transcription	Spleen	Spleen
13	chr11:75522800-75525000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:75522800-75525200	Weak transcription	Liver	Liver
15	chr11:75523400-75525600	Flanking Active TSS	GM12878-XiMat	blood
16	chr11:75523600-75525000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:75523600-75525000	Enhancers	NHEK	skin
18	chr11:75523600-75525200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr11:75523600-75525200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr11:75523600-75525200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr11:75523600-75525200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:75523600-75525200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:75523600-75525400	Flanking Active TSS	HepG2	liver
24	chr11:75523800-75525000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:75523800-75525000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:75523800-75525000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:75523800-75525200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr11:75523800-75525200	Enhancers	Placenta	Placenta
29	chr11:75523800-75525400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:75524000-75525000	Enhancers	K562	blood
31	chr11:75524000-75525200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:75524000-75525200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:75524000-75525400	Enhancers	Primary B cells from peripheral blood	blood
34	chr11:75524200-75525000	Enhancers	HMEC	breast
35	chr11:75524200-75525200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:75524200-75525800	Flanking Active TSS	HUVEC	blood vessel
37	chr11:75524400-75525200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr11:75524400-75525200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr11:75524400-75525800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr11:75524600-75525000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr11:75524600-75525000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:75524600-75525200	Enhancers	Primary T cells from cord blood	blood
43	chr11:75524600-75525200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:75524600-75525200	Enhancers	Fetal Intestine Small	intestine
45	chr11:75524600-75525200	Enhancers	Dnd41	blood
46	chr11:75524600-75525200	Enhancers	NH-A	brain
47	chr11:75524600-75525200	Enhancers	Osteobl	bone
48	chr11:75524600-75525400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr11:75524800-75525000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:75524800-75525000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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