Variant report

Variant	rs73487879
Chromosome Location	chr11:62649148-62649149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:62649116-62649182	Lung_OC	lung:	n/a	n/a
2	POLR2A	chr11:62647770-62649522	GM12878	blood:	n/a	n/a
3	E2F6	chr11:62648702-62649267	K562	blood:	n/a	chr11:62648929-62648938
4	MYC	chr11:62647930-62649574	H1-hESC	embryonic stem cell:	n/a	chr11:62649208-62649217 chr11:62649557-62649566
5	MAFK	chr11:62649055-62649256	HepG2	liver:	n/a	chr11:62649134-62649143
6	FOSL1	chr11:62648862-62649421	K562	blood:	n/a	chr11:62649133-62649141 chr11:62649131-62649142 chr11:62649134-62649145 chr11:62649132-62649142 chr11:62649132-62649142 chr11:62649132-62649142 chr11:62649131-62649143
7	POLR2A	chr11:62649095-62649288	HepG2	liver:	n/a	n/a
8	CHD2	chr11:62647906-62649396	GM12878	blood:	n/a	chr11:62648309-62648319
9	TAF1	chr11:62649054-62649320	GM12891	blood:	n/a	n/a
10	MAX	chr11:62648169-62649513	MCF-7	breast:	n/a	chr11:62649208-62649217
11	JUN	chr11:62648998-62649432	HUVEC	blood vessel:	n/a	chr11:62649133-62649141 chr11:62649134-62649145 chr11:62649132-62649142 chr11:62649132-62649142 chr11:62649206-62649219 chr11:62649132-62649142 chr11:62649131-62649143
12	MAX	chr11:62647995-62649490	MCF-7	breast:	n/a	chr11:62649208-62649217
13	FOSL2	chr11:62648219-62649376	MCF-7	breast:	n/a	chr11:62649133-62649141 chr11:62649134-62649145 chr11:62649132-62649142 chr11:62649132-62649142 chr11:62649132-62649142 chr11:62649131-62649143
14	USF1	chr11:62648900-62649356	A549	lung:	n/a	n/a
15	POLR2A	chr11:62647549-62652363	U87	brain:	n/a	n/a
16	CREB1	chr11:62647987-62649522	H1-hESC	embryonic stem cell:	n/a	n/a
17	TCF7L2	chr11:62647956-62649515	Hela-S3	cervix:	n/a	chr11:62649132-62649141
18	POLR2A	chr11:62648173-62649394	GM10847	blood:	n/a	n/a
19	BCLAF1	chr11:62648316-62649486	K562	blood:	n/a	n/a
20	MAFF	chr11:62648957-62649389	K562	blood:	n/a	n/a
21	MAX	chr11:62648041-62649472	SK-N-SH	brain:	n/a	chr11:62649208-62649217
22	E2F4	chr11:62648291-62649279	GM12878	blood:	n/a	chr11:62648349-62648359 chr11:62648929-62648938
23	POLR2A	chr11:62647758-62649624	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr11:62648142-62649418	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:62649066-62649330	HepG2	liver:	n/a	n/a
26	ATF3	chr11:62649016-62649306	K562	blood:	n/a	n/a
27	MAX	chr11:62648107-62649413	H1-hESC	embryonic stem cell:	n/a	chr11:62649208-62649217
28	JUND	chr11:62648179-62649432	MCF-7	breast:	n/a	chr11:62649133-62649141 chr11:62649131-62649142 chr11:62649134-62649145 chr11:62649132-62649142 chr11:62649132-62649142 chr11:62649132-62649142 chr11:62649131-62649143
29	GTF2B	chr11:62648253-62649292	K562	blood:	n/a	n/a
30	CHD2	chr11:62648111-62649603	K562	blood:	n/a	chr11:62648309-62648319
31	ETS1	chr11:62648069-62649391	K562	blood:	n/a	chr11:62648224-62648238
32	EP300	chr11:62648094-62649328	GM12878	blood:	n/a	chr11:62648270-62648286
33	POLR2A	chr11:62647455-62649898	PANC-1	pancreas:	n/a	n/a
34	BHLHE40	chr11:62647771-62649680	K562	blood:	n/a	chr11:62647977-62647993 chr11:62648309-62648325 chr11:62648348-62648364
35	REST	chr11:62649041-62649412	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr11:62647110-62659411	PFSK-1	brain:	n/a	n/a
37	NR2F2	chr11:62647550-62649619	K562	blood:	n/a	n/a
38	POLR2A	chr11:62647898-62649465	GM19193	blood:	n/a	n/a
39	POLR2A	chr11:62647941-62649519	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:62648102-62649341	Raji	blood:	n/a	n/a
41	USF1	chr11:62648894-62649388	A549	lung:	n/a	n/a
42	ZNF143	chr11:62648695-62649612	K562	blood:	n/a	n/a
43	BHLHE40	chr11:62648754-62649411	A549	lung:	n/a	n/a
44	CHD2	chr11:62648161-62649427	Hela-S3	cervix:	n/a	chr11:62648309-62648319
45	POLR2A	chr11:62647788-62652250	K562	blood:	n/a	n/a
46	USF1	chr11:62648755-62649515	HCT-116	colon:	n/a	n/a
47	CTCF	chr11:62647690-62649787	SK-N-SH	brain:	n/a	n/a
48	STAT1	chr11:62648061-62649362	GM12878	blood:	n/a	chr11:62649267-62649279 chr11:62648160-62648168 chr11:62649052-62649064 chr11:62648160-62648183
49	TCF7L2	chr11:62648362-62649306	PANC-1	pancreas:	n/a	chr11:62649132-62649141
50	CEBPB	chr11:62648858-62649386	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62553817..62554709-chr11:62648398..62649241,3	K562	blood:
2	chr11:62535249..62539593-chr11:62647377..62651642,6	K562	blood:
3	chr11:62417050..62420796-chr11:62647729..62650585,3	K562	blood:
4	chr11:62393128..62395925-chr11:62647491..62649507,2	K562	blood:
5	chr11:62357563..62359095-chr11:62646957..62649775,2	K562	blood:
6	chr11:62431843..62435669-chr11:62647350..62651900,6	K562	blood:
7	chr11:62472359..62475828-chr11:62647268..62649751,3	K562	blood:
8	chr11:62436644..62439359-chr11:62646545..62649165,3	MCF-7	breast:
9	chr11:62491208..62492713-chr11:62647494..62650289,2	K562	blood:
10	chr11:62435729..62437858-chr11:62648872..62651709,3	K562	blood:
11	chr11:62554019..62554577-chr11:62648383..62649680,4	MCF-7	breast:
12	chr11:62648598..62649537-chr2:175113405..175113919,2	NB4	blood:
13	chr11:62647607..62649189-chr6:26216943..26218786,2	MCF-7	breast:
14	chr11:62548379..62551140-chr11:62648838..62650458,2	MCF-7	breast:
15	chr11:62357563..62359193-chr11:62647721..62650234,3	K562	blood:
16	chr11:62520275..62522946-chr11:62645985..62649381,3	K562	blood:
17	chr11:62492683..62497467-chr11:62646838..62651892,11	MCF-7	breast:
18	chr11:62568262..62574296-chr11:62646831..62652869,25	K562	blood:
19	chr11:62492996..62496945-chr11:62646247..62651278,7	K562	blood:
20	chr11:62367640..62370552-chr11:62646699..62650475,4	K562	blood:
21	chr11:62648669..62649199-chr18:74534369..74535025,2	HCT-116	colon:
22	chr11:62521216..62523210-chr11:62647073..62650275,3	MCF-7	breast:
23	chr11:62379544..62381824-chr11:62648377..62649944,2	MCF-7	breast:
24	chr11:62570028..62574835-chr11:62645876..62651719,9	MCF-7	breast:
25	chr11:62491044..62492713-chr11:62648215..62650289,2	K562	blood:
26	chr11:62614063..62631836-chr11:62641578..62658963,131	K562	blood:
27	chr11:62647065..62649717-chr20:58515490..58517271,2	MCF-7	breast:
28	chr11:62648404..62649244-chr12:125398692..125399205,2	NB4	blood:
29	chr11:62537178..62539067-chr11:62647194..62649874,3	MCF-7	breast:
30	chr11:62597102..62625754-chr11:62640222..62672995,305	MCF-7	breast:
31	chr11:62432088..62434387-chr11:62647031..62649538,2	MCF-7	breast:
32	chr11:62437902..62440442-chr11:62649124..62651386,2	K562	blood:
33	chr11:62557524..62562234-chr11:62648109..62651861,7	MCF-7	breast:
34	chr11:62554671..62555231-chr11:62648690..62649300,2	MCF-7	breast:
35	chr11:62437394..62440869-chr11:62646713..62650476,3	MCF-7	breast:
36	chr11:62359344..62361890-chr11:62648771..62650746,2	MCF-7	breast:
37	chr11:62552792..62555847-chr11:62647130..62649597,5	MCF-7	breast:
38	chr11:62322655..62325440-chr11:62647674..62649903,2	MCF-7	breast:
39	chr11:62649006..62649769-chr3:9438593..9439142,2	Hela-S3	cervix:
40	chr11:62561630..62563637-chr11:62647744..62650258,2	K562	blood:
41	chr11:62544506..62546986-chr11:62647497..62649225,2	K562	blood:
42	chr11:62547790..62550201-chr11:62647689..62650271,2	K562	blood:
43	chr11:62648279..62649874-chr16:14735813..14737888,2	MCF-7	breast:
44	chr11:62648527..62649180-chr17:27620643..27621522,2	Hela-S3	cervix:
45	chr11:62648315..62649221-chr14:50065627..50066147,2	Hela-S3	cervix:
46	chr11:62551512..62560180-chr11:62645894..62651775,24	K562	blood:
47	chr11:62358169..62360257-chr11:62648192..62650722,2	MCF-7	breast:
48	chr11:62596557..62612020-chr11:62639561..62665043,131	K562	blood:
49	chr11:62494848..62497527-chr11:62648333..62651909,3	K562	blood:
50	chr11:62444978..62447315-chr11:62646743..62649778,3	K562	blood:

Variant related genes	Relation type
SLC3A2	TF binding region
ENSG00000185475	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000256690	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000238964	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000168569	Chromatin interaction
ENSG00000196227	Chromatin interaction
ENSG00000165501	Chromatin interaction
ENSG00000253459	Chromatin interaction
ENSG00000206573	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000138430	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000108256	Chromatin interaction
ENSG00000130856	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000162236	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000214753	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11568617	1.00[AMR][1000 genomes]
rs11568622	1.00[AMR][1000 genomes]
rs11822922	1.00[EUR][1000 genomes]
rs12273912	1.00[EUR][1000 genomes]
rs1787724	1.00[EUR][1000 genomes]
rs2510538	1.00[EUR][1000 genomes]
rs2584915	1.00[EUR][1000 genomes]
rs2584917	1.00[EUR][1000 genomes]
rs2730030	1.00[EUR][1000 genomes]
rs2956139	1.00[EUR][1000 genomes]
rs2958240	1.00[EUR][1000 genomes]
rs481272	1.00[EUR][1000 genomes]
rs482331	1.00[EUR][1000 genomes]
rs486451	1.00[EUR][1000 genomes]
rs489275	1.00[EUR][1000 genomes]
rs4963309	1.00[EUR][1000 genomes]
rs506132	1.00[EUR][1000 genomes]
rs507101	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs514401	1.00[EUR][1000 genomes]
rs518780	1.00[EUR][1000 genomes]
rs519473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs523328	1.00[EUR][1000 genomes]
rs544573	1.00[EUR][1000 genomes]
rs560006	0.85[AFR][1000 genomes]
rs560603	0.82[AFR][1000 genomes]
rs560618	1.00[EUR][1000 genomes]
rs561385	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56226867	1.00[EUR][1000 genomes]
rs56262657	1.00[EUR][1000 genomes]
rs564587	1.00[EUR][1000 genomes]
rs572513	1.00[EUR][1000 genomes]
rs573146	1.00[EUR][1000 genomes]
rs57338459	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs575134	1.00[EUR][1000 genomes]
rs577071	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57858466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs592337	1.00[EUR][1000 genomes]
rs595108	1.00[EUR][1000 genomes]
rs60568977	1.00[EUR][1000 genomes]
rs60668695	1.00[EUR][1000 genomes]
rs619109	1.00[EUR][1000 genomes]
rs646194	1.00[EUR][1000 genomes]
rs692773	1.00[EUR][1000 genomes]
rs694678	1.00[EUR][1000 genomes]
rs73487834	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73487878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73487880	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490026	1.00[EUR][1000 genomes]
rs73492003	1.00[AMR][1000 genomes]
rs73492015	1.00[AMR][1000 genomes]
rs73502133	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
4	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
5	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62647200-62649400	Active TSS	Fetal Brain Female	brain
2	chr11:62647200-62652000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
3	chr11:62647400-62651800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
4	chr11:62647600-62649400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:62647600-62649400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:62647600-62650000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr11:62647600-62650000	Active TSS	Psoas Muscle	Psoas
8	chr11:62647600-62650000	Active TSS	Right Ventricle	heart
9	chr11:62647600-62650400	Active TSS	Aorta	Aorta
10	chr11:62647800-62649200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:62647800-62649200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:62647800-62649400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:62647800-62649400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:62647800-62649400	Active TSS	Brain Angular Gyrus	brain
15	chr11:62647800-62649600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:62647800-62649600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:62647800-62649600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:62647800-62649800	Active TSS	Small Intestine	intestine
19	chr11:62647800-62650000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:62647800-62650000	Active TSS	Lung	lung
21	chr11:62647800-62650200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:62647800-62650200	Active TSS	Brain Substantia Nigra	brain
23	chr11:62647800-62650200	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr11:62647800-62650200	Active TSS	HSMMtube	muscle
25	chr11:62647800-62650200	Active TSS	NHDF-Ad	bronchial
26	chr11:62647800-62650400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr11:62647800-62650400	Active TSS	Ovary	ovary
28	chr11:62647800-62650800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:62648000-62649200	Active TSS	Brain Germinal Matrix	brain
30	chr11:62648000-62649200	Active TSS	Fetal Brain Male	brain
31	chr11:62648000-62649400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:62648000-62649400	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr11:62648000-62649400	Active TSS	Brain Hippocampus Middle	brain
34	chr11:62648000-62649400	Active TSS	A549	lung
35	chr11:62648000-62649600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:62648000-62649600	Active TSS	Brain Cingulate Gyrus	brain
37	chr11:62648000-62649600	Active TSS	Colon Smooth Muscle	Colon
38	chr11:62648000-62649600	Active TSS	Fetal Kidney	kidney
39	chr11:62648000-62649600	Active TSS	Fetal Stomach	stomach
40	chr11:62648000-62649600	Active TSS	Spleen	Spleen
41	chr11:62648000-62649800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:62648000-62649800	Active TSS	Gastric	stomach
43	chr11:62648000-62650200	Active TSS	Brain Anterior Caudate	brain
44	chr11:62648000-62650200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:62648000-62650200	Active TSS	Esophagus	oesophagus
46	chr11:62648200-62649200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:62648200-62649200	Active TSS	Primary B cells from peripheral blood	blood
48	chr11:62648200-62649200	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr11:62648200-62649200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:62648200-62649200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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