Variant report

Variant	rs61884264
Chromosome Location	chr11:46639582-46639583
allele	A/G
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	SMC3	chr11:46638331-46639728	Hela-S3	cervix:	n/a	chr11:46639359-46639369 chr11:46639478-46639492
2	TEAD4	chr11:46638251-46639681	K562	blood:	n/a	chr11:46638862-46638871
3	TBP	chr11:46638336-46639867	GM12878	blood:	n/a	n/a
4	CTCF	chr11:46639152-46639626	MCF-7	breast:	n/a	chr11:46639476-46639494 chr11:46639479-46639489 chr11:46639356-46639369 chr11:46639482-46639491 chr11:46639478-46639491
5	GATA1	chr11:46638408-46639843	PBDE	blood:	n/a	n/a
6	RAD21	chr11:46639332-46639629	H1-hESC	embryonic stem cell:	n/a	chr11:46639474-46639493
7	YY1	chr11:46638305-46639768	SK-N-SH	brain:	n/a	chr11:46639141-46639150
8	SMC3	chr11:46639274-46639856	GM12878	blood:	n/a	chr11:46639359-46639369 chr11:46639478-46639492
9	RAD21	chr11:46639228-46639710	A549	lung:	n/a	chr11:46639474-46639493
10	CTCF	chr11:46639440-46639590	AG09319	gingival:	n/a	chr11:46639476-46639494 chr11:46639479-46639489 chr11:46639482-46639491 chr11:46639478-46639491
11	ELF1	chr11:46638415-46639733	GM12878	blood:	n/a	chr11:46638831-46638840
12	YY1	chr11:46638403-46639598	SK-N-SH_RA	brain:	n/a	chr11:46639141-46639150
13	PAX5	chr11:46639308-46639660	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:46638097-46639691	GM12878	blood:	n/a	n/a
15	BRCA1	chr11:46639462-46639646	GM12878	blood:	n/a	n/a
16	CTCF	chr11:46639335-46639632	GM10248	blood:	n/a	chr11:46639476-46639494 chr11:46639479-46639489 chr11:46639356-46639369 chr11:46639482-46639491 chr11:46639478-46639491
17	SIN3AK20	chr11:46638150-46639729	MCF-7	breast:	n/a	n/a
18	CTCF	chr11:46639148-46639644	GM12892	blood:	n/a	chr11:46639476-46639494 chr11:46639479-46639489 chr11:46639356-46639369 chr11:46639482-46639491 chr11:46639478-46639491
19	CTCF	chr11:46639320-46639624	GM13977	blood:	n/a	chr11:46639476-46639494 chr11:46639479-46639489 chr11:46639356-46639369 chr11:46639482-46639491 chr11:46639478-46639491
20	POLR2A	chr11:46638335-46639805	Hela-S3	cervix:	n/a	n/a
21	JUND	chr11:46638967-46639588	A549	lung:	n/a	chr11:46639093-46639102 chr11:46639092-46639101 chr11:46639091-46639100
22	CTCF	chr11:46639346-46639638	Spleen_OC	spleen:	n/a	chr11:46639479-46639489 chr11:46639478-46639491 chr11:46639482-46639491 chr11:46639476-46639494 chr11:46639356-46639369
23	CTCF	chr11:46639404-46639590	HepG2	liver:	n/a	chr11:46639476-46639494 chr11:46639479-46639489 chr11:46639482-46639491 chr11:46639478-46639491
24	CTCF	chr11:46639384-46639606	Kidney_OC	kidney:	n/a	chr11:46639476-46639494 chr11:46639479-46639489 chr11:46639482-46639491 chr11:46639478-46639491
25	MAX	chr11:46638400-46639771	HepG2	liver:	n/a	n/a
26	MAX	chr11:46638366-46639631	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:46638412-46639661	GM18505	blood:	n/a	n/a
28	BCLAF1	chr11:46638540-46639624	GM12878	blood:	n/a	chr11:46639066-46639075
29	YY1	chr11:46638417-46639726	K562	blood:	n/a	chr11:46639141-46639150
30	RAD21	chr11:46639175-46639649	MCF-7	breast:	n/a	chr11:46639474-46639493
31	HDAC2	chr11:46638404-46639597	MCF-7	breast:	n/a	n/a
32	POLR2A	chr11:46638402-46639606	GM19099	blood:	n/a	n/a
33	POLR2A	chr11:46638474-46639600	GM15510	blood:	n/a	n/a
34	CTCF	chr11:46639231-46639659	H1-hESC	embryonic stem cell:	n/a	chr11:46639476-46639494 chr11:46639479-46639489 chr11:46639356-46639369 chr11:46639482-46639491 chr11:46639478-46639491
35	EBF1	chr11:46639183-46639623	GM12878	blood:	n/a	n/a
36	ELF1	chr11:46638286-46639874	HCT-116	colon:	n/a	chr11:46638831-46638840
37	BACH1	chr11:46639349-46639745	H1-hESC	embryonic stem cell:	n/a	n/a
38	SIN3AK20	chr11:46637868-46639916	MCF-7	breast:	n/a	n/a
39	MAFK	chr11:46639293-46639622	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr11:46639480-46639630	WI-38	lung:	n/a	chr11:46639482-46639491
41	CTCF	chr11:46639440-46639590	GM06990	blood:	n/a	chr11:46639476-46639494 chr11:46639479-46639489 chr11:46639482-46639491 chr11:46639478-46639491
42	POLR2A	chr11:46638157-46639741	GM12891	blood:	n/a	n/a
43	MYC	chr11:46638458-46639706	NB4	blood:	n/a	n/a
44	CTCF	chr11:46639383-46639599	H1-hESC	embryonic stem cell:	n/a	chr11:46639476-46639494 chr11:46639479-46639489 chr11:46639482-46639491 chr11:46639478-46639491
45	CTCF	chr11:46639305-46639640	GM12891	blood:	n/a	chr11:46639476-46639494 chr11:46639479-46639489 chr11:46639356-46639369 chr11:46639482-46639491 chr11:46639478-46639491
46	HDAC2	chr11:46639339-46639683	HepG2	liver:	n/a	n/a
47	ELF1	chr11:46638347-46639678	GM12878	blood:	n/a	chr11:46638831-46638840
48	CREB1	chr11:46638466-46639604	HepG2	liver:	n/a	n/a
49	SMARCB1	chr11:46638498-46639676	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr11:46639551-46639658	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46639444..46641700-chr11:46721393..46724232,2	K562	blood:
2	chr11:46638788..46639755-chr17:33415372..33416108,2	Hela-S3	cervix:
3	chr11:46402485..46405164-chr11:46638326..46640546,2	MCF-7	breast:
4	chr11:46637848..46640498-chr11:46721898..46723804,3	K562	blood:
5	chr11:46612682..46616459-chr11:46637148..46640033,6	MCF-7	breast:
6	chr11:46477611..46479570-chr11:46639487..46642071,2	MCF-7	breast:
7	chr11:46140376..46142887-chr11:46639092..46640615,2	MCF-7	breast:
8	chr11:46613853..46617362-chr11:46635690..46640935,4	K562	blood:
9	chr11:46639066..46639762-chrX:53449061..53449746,2	Hela-S3	cervix:
10	chr11:46637616..46640198-chr11:46720757..46723705,2	MCF-7	breast:
11	chr11:46612073..46617371-chr11:46634890..46640526,10	MCF-7	breast:
12	chr11:46613853..46615716-chr11:46637980..46640935,3	K562	blood:
13	chr11:46637809..46639630-chr11:46716383..46720215,3	K562	blood:
14	chr11:46568146..46571770-chr11:46637257..46640089,4	MCF-7	breast:

Variant related genes	Relation type
HARBI1	TF binding region
ENSG00000072501	Chromatin interaction
ENSG00000110497	Chromatin interaction
ENSG00000092871	Chromatin interaction
ENSG00000158423	Chromatin interaction
ENSG00000175213	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000175220	Chromatin interaction
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10160701	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10838602	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11038897	0.93[EUR][1000 genomes]
rs11038900	0.91[EUR][1000 genomes]
rs11038906	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11038914	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11038919	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11038927	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11819869	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12272795	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12283172	0.91[EUR][1000 genomes]
rs12292425	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295266	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12573978	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12574250	0.87[EUR][1000 genomes]
rs12574259	0.82[EUR][1000 genomes]
rs12574668	0.90[EUR][1000 genomes]
rs12574918	0.80[EUR][1000 genomes]
rs12575519	0.91[EUR][1000 genomes]
rs12576115	0.87[EUR][1000 genomes]
rs12576317	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12576359	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12577142	0.88[EUR][1000 genomes]
rs12578042	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1472001	0.89[EUR][1000 genomes]
rs1489192	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16938506	0.93[EUR][1000 genomes]
rs2046768	0.91[EUR][1000 genomes]
rs2067482	0.91[EUR][1000 genomes]
rs2171667	0.93[EUR][1000 genomes]
rs2171668	0.93[EUR][1000 genomes]
rs2279465	0.91[EUR][1000 genomes]
rs2291487	0.91[EUR][1000 genomes]
rs2864072	0.91[EUR][1000 genomes]
rs2864076	0.93[EUR][1000 genomes]
rs2902858	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34406563	0.89[EUR][1000 genomes]
rs35324223	0.81[EUR][1000 genomes]
rs35623865	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740974	0.91[EUR][1000 genomes]
rs3740977	0.90[EUR][1000 genomes]
rs3802888	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4307676	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4319473	0.81[EUR][1000 genomes]
rs4423142	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55657382	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55661562	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55896955	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56349329	0.84[EUR][1000 genomes]
rs57535407	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57739486	0.80[EUR][1000 genomes]
rs57744667	0.84[EUR][1000 genomes]
rs58147945	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59319338	0.88[EUR][1000 genomes]
rs60722866	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60932698	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882678	0.83[EUR][1000 genomes]
rs61882682	0.89[EUR][1000 genomes]
rs61882683	0.84[EUR][1000 genomes]
rs61882691	0.91[EUR][1000 genomes]
rs61882701	0.91[EUR][1000 genomes]
rs61882702	0.91[EUR][1000 genomes]
rs61882706	0.90[EUR][1000 genomes]
rs61882709	0.93[EUR][1000 genomes]
rs61882710	0.91[EUR][1000 genomes]
rs61882711	0.91[EUR][1000 genomes]
rs61882712	0.89[EUR][1000 genomes]
rs61882720	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882743	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882746	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882748	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882750	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882756	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882757	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882758	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884262	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884271	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884273	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884274	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884292	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884295	0.84[EUR][1000 genomes]
rs6485682	0.93[EUR][1000 genomes]
rs6485685	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7108770	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109698	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7112229	0.89[EUR][1000 genomes]
rs7122039	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125907	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7126316	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126343	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7127529	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7128092	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7130141	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73449983	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7481312	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7484002	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924401	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926389	0.82[EUR][1000 genomes]
rs7930103	0.89[EUR][1000 genomes]
rs7936413	0.91[EUR][1000 genomes]
rs7946705	0.91[EUR][1000 genomes]
rs7951579	0.93[EUR][1000 genomes]
rs7951870	0.92[EUR][1000 genomes]
rs876701	0.84[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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr11:46637600-46640400	Active TSS	HSMM	muscle
2	chr11:46637600-46640600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:46637800-46641200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:46638000-46639600	Active TSS	Fetal Brain Female	brain
5	chr11:46638000-46639600	Active TSS	Psoas Muscle	Psoas
6	chr11:46638000-46639800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:46638000-46640000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:46638000-46640000	Active TSS	Lung	lung
9	chr11:46638000-46640000	Active TSS	Pancreas	Pancrea
10	chr11:46638000-46640000	Active TSS	A549	lung
11	chr11:46638000-46640200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr11:46638000-46640400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr11:46638000-46640400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr11:46638000-46640400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:46638000-46640600	Active TSS	H1 Cell Line	embryonic stem cell
16	chr11:46638000-46640800	Active TSS	Right Atrium	heart
17	chr11:46638000-46640800	Active TSS	NHLF	lung
18	chr11:46638200-46639600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:46638200-46639600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:46638200-46639600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr11:46638200-46639600	Active TSS	Placenta	Placenta
22	chr11:46638200-46639600	Active TSS	Fetal Stomach	stomach
23	chr11:46638200-46639600	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr11:46638200-46639600	Active TSS	Rectal Smooth Muscle	rectum
25	chr11:46638200-46639800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr11:46638200-46639800	Active TSS	Brain Anterior Caudate	brain
27	chr11:46638200-46639800	Active TSS	Brain Hippocampus Middle	brain
28	chr11:46638200-46639800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:46638200-46639800	Active TSS	Brain Substantia Nigra	brain
30	chr11:46638200-46639800	Active TSS	Colon Smooth Muscle	Colon
31	chr11:46638200-46639800	Active TSS	Duodenum Mucosa	Duodenum
32	chr11:46638200-46639800	Active TSS	Right Ventricle	heart
33	chr11:46638200-46639800	Active TSS	Stomach Mucosa	stomach
34	chr11:46638200-46639800	Active TSS	NHEK	skin
35	chr11:46638200-46640000	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr11:46638200-46640000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:46638200-46640000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:46638200-46640000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:46638200-46640000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr11:46638200-46640000	Active TSS	Fetal Muscle Trunk	muscle
41	chr11:46638200-46640000	Active TSS	Left Ventricle	heart
42	chr11:46638200-46640200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr11:46638200-46640200	Active TSS	Brain Angular Gyrus	brain
44	chr11:46638200-46640200	Active TSS	Fetal Kidney	kidney
45	chr11:46638200-46640400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:46638200-46640400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:46638200-46640400	Active TSS	Brain Germinal Matrix	brain
48	chr11:46638200-46640400	Active TSS	Fetal Intestine Large	intestine
49	chr11:46638200-46640400	Active TSS	Fetal Intestine Small	intestine
50	chr11:46638200-46640400	Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links