Variant report

Variant	nsv869354
Chromosome Location	chr11:48088580-48783113
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3222)
CpG islands
(count:1711)
Chromatin interactive
region (count:103)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:8)

(count:3222 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:48131445-48131835	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:48123329-48123998	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:48118839-48119112	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:48130891-48131217	HepG2	liver:	n/a	n/a
5	ARID3A	chr11:48114969-48116284	HepG2	liver:	n/a	n/a
6	ARID3A	chr11:48130883-48131832	K562	blood:	n/a	n/a
7	ARID3A	chr11:48194471-48194702	HepG2	liver:	n/a	n/a
8	ARID3A	chr11:48600198-48600306	K562	blood:	n/a	n/a
9	ARID3A	chr11:48095041-48095124	K562	blood:	n/a	n/a
10	ATF1	chr11:48356437-48356637	K562	blood:	n/a	n/a
11	ATF1	chr11:48292484-48292679	K562	blood:	n/a	n/a
12	ATF2	chr11:48131384-48131873	GM12878	blood:	n/a	n/a
13	ATF2	chr11:48128530-48129047	GM12878	blood:	n/a	n/a
14	ATF2	chr11:48125767-48126273	GM12878	blood:	n/a	n/a
15	ATF2	chr11:48125780-48126273	GM12878	blood:	n/a	n/a
16	ATF2	chr11:48131303-48131862	GM12878	blood:	n/a	n/a
17	ATF2	chr11:48094862-48095450	GM12878	blood:	n/a	n/a
18	ATF2	chr11:48128499-48129217	GM12878	blood:	n/a	n/a
19	ATF3	chr11:48194480-48194676	K562	blood:	n/a	n/a
20	ATF3	chr11:48194364-48194613	K562	blood:	n/a	n/a
21	BACH1	chr11:48110331-48110562	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr11:48356973-48356986	K562	blood:	n/a	n/a
23	BACH1	chr11:48119683-48119696	K562	blood:	n/a	n/a
24	BATF	chr11:48775372-48775512	GM12878	blood:	n/a	n/a
25	BATF	chr11:48741581-48741798	GM12878	blood:	n/a	n/a
26	BATF	chr11:48775367-48775560	GM12878	blood:	n/a	n/a
27	BATF	chr11:48094903-48095273	GM12878	blood:	n/a	n/a
28	BATF	chr11:48131437-48131740	GM12878	blood:	n/a	n/a
29	BATF	chr11:48776576-48776723	GM12878	blood:	n/a	n/a
30	BATF	chr11:48128657-48129110	GM12878	blood:	n/a	n/a
31	BATF	chr11:48131359-48131717	GM12878	blood:	n/a	n/a
32	BATF	chr11:48776572-48776725	GM12878	blood:	n/a	n/a
33	BATF	chr11:48115348-48115634	GM12878	blood:	n/a	n/a
34	BATF	chr11:48128651-48129130	GM12878	blood:	n/a	n/a
35	BCL11A	chr11:48115355-48115560	GM12878	blood:	n/a	n/a
36	BCL11A	chr11:48775336-48775585	GM12878	blood:	n/a	n/a
37	BCL11A	chr11:48131334-48131777	GM12878	blood:	n/a	n/a
38	BCL11A	chr11:48128623-48129135	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
39	BCL11A	chr11:48776564-48776735	GM12878	blood:	n/a	n/a
40	BCL11A	chr11:48776528-48776717	GM12878	blood:	n/a	n/a
41	BCL11A	chr11:48128709-48129015	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
42	BCL3	chr11:48128713-48129121	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
43	BCL3	chr11:48393835-48394182	GM12878	blood:	n/a	n/a
44	BCL3	chr11:48128638-48129194	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
45	BCL3	chr11:48649085-48649287	GM12878	blood:	n/a	n/a
46	BCL3	chr11:48115343-48115664	GM12878	blood:	n/a	n/a
47	BCLAF1	chr11:48094857-48095248	GM12878	blood:	n/a	n/a
48	BCLAF1	chr11:48131240-48131877	GM12878	blood:	n/a	n/a
49	BCLAF1	chr11:48115236-48115686	GM12878	blood:	n/a	n/a
50	BCLAF1	chr11:48128565-48129092	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935

(count:1711 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48238724-48238774	AG10803	skin:	n/a
2	chr11:48328132-48328182	SK-N-MC	brain:	n/a
3	chr11:48346680-48346730	CMK	blood:	n/a
4	chr11:48238724-48238774	AG10803	skin:	n/a
5	chr11:48328132-48328182	SK-N-MC	brain:	n/a
6	chr11:48346680-48346730	CMK	blood:	n/a
7	chr11:48161380-48161430	Jurkat	blood:	n/a
8	chr11:48327164-48327214	HCPEpiC	choroid plexus:	n/a
9	chr11:48110045-48110095	HAEpiC	amniotic membrane:	n/a
10	chr11:48284249-48284299	Hela-S3	cervix:	n/a
11	chr11:48237358-48237408	GM12878	blood:	n/a
12	chr11:48112253-48112303	HL-60	blood:	n/a
13	chr11:48510647-48510697	AG04449	skin:	fetal
14	chr11:48266856-48266906	HRE	kidney:	n/a
15	chr11:48285821-48285871	HCF	heart:	n/a
16	chr11:48153832-48153882	SK-N-SH_RA	brain:	n/a
17	chr11:48509778-48509828	AG04450	lung:	fetal
18	chr11:48510647-48510697	HCM	heart:	n/a
19	chr11:48238296-48238346	IMR90	lung:	fetal
20	chr11:48153832-48153882	NHDF-neo	bronchial:	n/a
21	chr11:48285200-48285250	ovcar-3	ovarian:	n/a
22	chr11:48326388-48326438	SKMC	muscle:	n/a
23	chr11:48153832-48153882	RPTEC	kidney:	n/a
24	chr11:48118041-48118091	Hepatocyte	liver:	n/a
25	chr11:48509488-48509538	ProgFib	skin:	n/a
26	chr11:48509488-48509538	IMR90	lung:	fetal
27	chr11:48238296-48238346	HEEpiC	esophagus:	n/a
28	chr11:48345361-48345411	AG09319	gingival:	n/a
29	chr11:48153832-48153882	PrEC	prostate:	n/a
30	chr11:48237358-48237408	U87	brain:	n/a
31	chr11:48129067-48129117	MCF-7	breast:	n/a
32	chr11:48509488-48509538	HRPEpiC	eye:	n/a
33	chr11:48112253-48112303	SKMC	muscle:	n/a
34	chr11:48509488-48509538	SKMC	muscle:	n/a
35	chr11:48284249-48284299	HEK293	kidney:	embryo
36	chr11:48266856-48266906	HCT-116	colon:	n/a
37	chr11:48327164-48327214	MCF10A-Er-Src	breast:	n/a
38	chr11:48326388-48326438	HepG2	liver:	n/a
39	chr11:48285821-48285871	HEEpiC	esophagus:	n/a
40	chr11:48345815-48345865	HCPEpiC	choroid plexus:	n/a
41	chr11:48237353-48237403	AG04450	lung:	fetal
42	chr11:48284249-48284299	GM19239	blood:	n/a
43	chr11:48129067-48129117	U87	brain:	n/a
44	chr11:48118041-48118091	IMR90	lung:	fetal
45	chr11:48237353-48237403	IMR90	lung:	fetal
46	chr11:48510647-48510697	HRPEpiC	eye:	n/a
47	chr11:48191068-48191118	CMK	blood:	n/a
48	chr11:48346680-48346730	T-47D	breast:	n/a
49	chr11:48328132-48328182	HCT-116	colon:	n/a
50	chr11:48237358-48237408	AG04450	lung:	fetal

(count:103 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr11:48092743..48095466-chr11:48097566..48099297,2	K562	blood:
2	chr11:48000640..48001500-chr11:48131020..48132149,3	MCF-7	breast:
3	chr11:47985506..47986348-chr11:48130588..48131464,3	MCF-7	breast:
4	chr11:48142980..48145287-chr11:48148448..48150580,3	MCF-7	breast:
5	chr11:48361908..48364233-chr11:48365831..48368223,2	MCF-7	breast:
6	chr11:48101649..48104254-chr11:48106713..48109745,3	MCF-7	breast:
7	chr11:47956073..47956643-chr11:48155973..48156490,2	MCF-7	breast:
8	chr11:48108133..48109846-chr11:48110400..48112858,3	MCF-7	breast:
9	chr1:153895897..153896422-chr11:48153597..48154395,2	Hela-S3	cervix:
10	chr11:48086913..48088924-chr11:48093954..48095544,2	K562	blood:
11	chr11:48112031..48113821-chr11:48114417..48116008,2	K562	blood:
12	chr11:48125100..48126917-chr11:48129444..48131504,2	MCF-7	breast:
13	chr11:48107721..48110377-chr11:48121800..48123863,2	MCF-7	breast:
14	chr11:48144846..48146446-chr11:48150418..48153152,2	K562	blood:
15	chr11:47967425..47969925-chr11:48129768..48132712,2	MCF-7	breast:
16	chr11:48121014..48122957-chr11:48124539..48127155,2	K562	blood:
17	chr11:48108133..48109846-chr11:48110400..48112858,3	MCF-7	breast:
18	chr11:48167809..48169447-chr6:82621853..82624317,2	MCF-7	breast:
19	chr11:47970432..47972132-chr11:48121699..48124423,2	K562	blood:
20	chr11:48099180..48102059-chr11:48102708..48105162,2	K562	blood:
21	chr11:48234220..48234962-chr11:48329425..48329937,2	MCF-7	breast:
22	chr11:48099180..48102059-chr11:48102708..48105162,2	K562	blood:
23	chr11:48366878..48368914-chr11:48372533..48375413,2	MCF-7	breast:
24	chr11:48097619..48099123-chr11:48100995..48103478,2	MCF-7	breast:
25	chr11:48093831..48096549-chr11:48096756..48099477,2	MCF-7	breast:
26	chr11:48193798..48195313-chr11:48231364..48232253,10	MCF-7	breast:
27	chr11:48097619..48099123-chr11:48100995..48103478,2	MCF-7	breast:
28	chr11:48205381..48206618-chr11:48231139..48232409,4	MCF-7	breast:
29	chr11:47869473..47872069-chr11:48119800..48121931,2	MCF-7	breast:
30	chr11:48082980..48084917-chr11:48096551..48099093,2	K562	blood:
31	chr11:48109181..48111732-chr11:48113222..48115393,2	K562	blood:
32	chr11:18993520..18994020-chr11:48120012..48120966,2	MCF-7	breast:
33	chr11:48081533..48083185-chr11:48091579..48093994,2	MCF-7	breast:
34	chr11:48047876..48049953-chr11:48109269..48111434,2	MCF-7	breast:
35	chr11:48120614..48123449-chr11:48129423..48131714,2	MCF-7	breast:
36	chr11:48107721..48110377-chr11:48121800..48123863,2	MCF-7	breast:
37	chr11:48119543..48121197-chr11:48126844..48128670,2	K562	blood:
38	chr11:48087146..48090054-chr11:48094817..48096585,2	MCF-7	breast:
39	chr11:48000629..48003536-chr11:48164616..48166215,2	K562	blood:
40	chr11:48105031..48106761-chr11:48108023..48109885,2	MCF-7	breast:
41	chr11:48131666..48133452-chr11:48135727..48137956,2	MCF-7	breast:
42	chr11:47955472..47956729-chr11:48130954..48132546,8	MCF-7	breast:
43	chr11:48131666..48133452-chr11:48135727..48137956,2	MCF-7	breast:
44	chr11:48193798..48195313-chr11:48231364..48232253,10	MCF-7	breast:
45	chr11:48046572..48047306-chr11:48130972..48131586,2	MCF-7	breast:
46	chr11:48194137..48195015-chr11:48231499..48232341,4	MCF-7	breast:
47	chr11:48086913..48088924-chr11:48093954..48095544,2	K562	blood:
48	chr11:48129232..48130878-chr11:48134176..48136053,2	K562	blood:
49	chr11:48205861..48206473-chr11:48233802..48234494,2	MCF-7	breast:
50	chr11:47985574..47986089-chr11:48131663..48132191,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C5-1	chr11:48507915-48508377	NONHSAT021297

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3161	chr11:48118343-48118365	MIMAT0015035

(count:8 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PTPRJ	hsa-miR-124-3p	chr11:48189418-48189438
2	PTPRJ	hsa-miR-155-5p	chr11:48190351-48190373
3	PTPRJ	hsa-miR-16-5p	chr11:48190236-48190242
4	PTPRJ	hsa-miR-328-3p	chr11:48191725-48191748
5	PTPRJ	hsa-miR-16-5p	chr11:48190225-48190243
6	PTPRJ	hsa-miR-124-3p	chr11:48189431-48189437
7	PTPRJ	hsa-miR-155-5p	chr11:48190367-48190373
8	PTPRJ	hsa-miR-26b-5p	chr11:48190233-48190256

Variant related genes	Relation type
OR4C9P	TF binding region
MIR3161	TF binding region
OR4C5	TF binding region
OR4C4P	TF binding region
OR4C10P	TF binding region
OR4A47	TF binding region
OR4C2P	TF binding region
OR4X2	TF binding region
OR4A41P	TF binding region
OR4A40P	TF binding region
OR4A46P	TF binding region
OR4B2P	TF binding region
OR4A44P	TF binding region
OR4A45P	TF binding region
OR4A48P	TF binding region
OR4X1	TF binding region
PTPRJ	TF binding region
OR4R1P	TF binding region
OR4C3	TF binding region
OR4S1	TF binding region
OR4A42P	TF binding region
OR4B1	TF binding region
OR4A43P	TF binding region
OR4C9P	CpG island
MIR3161	CpG island
OR4C5	CpG island
OR4C4P	CpG island
OR4C10P	CpG island
OR4A47	CpG island
OR4C2P	CpG island
OR4X2	CpG island
OR4A41P	CpG island
OR4A40P	CpG island
OR4A46P	CpG island
OR4B2P	CpG island
OR4A44P	CpG island
OR4A45P	CpG island
OR4A48P	CpG island
OR4X1	CpG island
PTPRJ	CpG island
OR4R1P	CpG island
OR4C3	CpG island
OR4S1	CpG island
OR4A42P	CpG island
OR4B1	CpG island
OR4A43P	CpG island
ENSG00000165923	chromatin interactions
ENSG00000254879	chromatin interactions
ENSG00000197161	chromatin interactions
ENSG00000030066	chromatin interactions
ENSG00000149177	chromatin interactions

Extended variants
information (count: 13076 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:13076 , 50 per page) page: 1 2 3 4 5 6 7 ... 262

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563168987	chr11:48088627-48088628	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536798549	chr11:48088687-48088688	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557168171	chr11:48088733-48088734	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531786768	chr11:48088806-48088807	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376195116	chr11:48088825-48088826	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573394688	chr11:48088840-48088841	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542350946	chr11:48088853-48088854	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552531863	chr11:48088857-48088858	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572479111	chr11:48088861-48088862	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181308139	chr11:48088889-48088890	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72901559	chr11:48088895-48088896	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562074462	chr11:48088922-48088923	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575936495	chr11:48088980-48088981	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544467795	chr11:48088981-48088982	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376118256	chr11:48089054-48089055	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538464439	chr11:48089076-48089077	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148341507	chr11:48089173-48089174	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547087346	chr11:48089241-48089242	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs11039509	chr11:48089315-48089316	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs141586916	chr11:48089325-48089326	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs184221709	chr11:48089363-48089364	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs147532646	chr11:48089403-48089404	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs139916928	chr11:48089409-48089410	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs547839618	chr11:48089419-48089420	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567153452	chr11:48089420-48089421	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs189025934	chr11:48089438-48089439	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs552618384	chr11:48089448-48089449	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs572605393	chr11:48089471-48089472	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs538249661	chr11:48089498-48089499	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs113925475	chr11:48089504-48089505	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs115666168	chr11:48089515-48089516	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs575830481	chr11:48089518-48089519	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs143832458	chr11:48089664-48089665	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561590056	chr11:48089683-48089684	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73464881	chr11:48089691-48089692	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs148324263	chr11:48089716-48089717	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371501482	chr11:48089722-48089723	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540840605	chr11:48089728-48089729	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369050351	chr11:48089742-48089743	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73464883	chr11:48089747-48089748	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182212361	chr11:48089783-48089784	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552281347	chr11:48089823-48089824	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557092456	chr11:48089831-48089832	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs562938338	chr11:48089858-48089859	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs148268659	chr11:48089876-48089877	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs11039510	chr11:48089917-48089918	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs530695142	chr11:48089918-48089919	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs575273891	chr11:48089933-48089934	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs550435847	chr11:48089966-48089967	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs372573199	chr11:48090003-48090004	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Glioblastoma multiforme	21390271	CNVD
Acute lymphoblastic leukemia	20699438	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Schizophrenia	20967226	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Medulloblastoma	21163964	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4251 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48077400-48088600	Weak transcription	Right Atrium	heart
2	chr11:48077800-48088800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:48078200-48090600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:48078600-48088600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:48078800-48093000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:48079200-48088800	Weak transcription	Esophagus	oesophagus
7	chr11:48079200-48102800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:48080600-48100800	Weak transcription	Spleen	Spleen
9	chr11:48081200-48094600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:48081600-48097200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:48081800-48101600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:48082000-48096000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:48082200-48088600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr11:48083200-48088600	Weak transcription	Lung	lung
15	chr11:48084000-48089200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr11:48084000-48090200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:48084200-48089800	Enhancers	Brain Hippocampus Middle	brain
18	chr11:48084800-48089200	Enhancers	Fetal Stomach	stomach
19	chr11:48085600-48089600	Weak transcription	Primary T cells from cord blood	blood
20	chr11:48085600-48091400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:48085800-48094600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:48086000-48088600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:48086000-48088600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:48086000-48088800	Weak transcription	Fetal Kidney	kidney
25	chr11:48086000-48088800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:48086000-48088800	Weak transcription	K562	blood
27	chr11:48086000-48089800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:48086000-48094800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:48086000-48100800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:48086000-48102000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:48086000-48109200	Weak transcription	Fetal Intestine Large	intestine
32	chr11:48086200-48088600	Weak transcription	Adipose Nuclei	Adipose
33	chr11:48086200-48088600	Weak transcription	Brain Substantia Nigra	brain
34	chr11:48086200-48088600	Weak transcription	Fetal Thymus	thymus
35	chr11:48086200-48088600	Enhancers	Osteobl	bone
36	chr11:48086200-48088800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:48086200-48088800	Weak transcription	Liver	Liver
38	chr11:48086200-48088800	Weak transcription	Brain Anterior Caudate	brain
39	chr11:48086200-48089000	Enhancers	NHDF-Ad	bronchial
40	chr11:48086200-48098800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr11:48086200-48100000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:48086200-48101000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:48086200-48101000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:48086200-48102000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:48086200-48114400	Weak transcription	Hela-S3	cervix
46	chr11:48086400-48101000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:48086600-48088600	Weak transcription	HSMM	muscle
48	chr11:48086600-48088800	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:48086800-48090600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:48086800-48102800	Weak transcription	Rectal Smooth Muscle	rectum

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