Variant report

Variant	rs57333975
Chromosome Location	chr11:67770025-67770026
allele	C/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	RUNX3	chr11:67769945-67771299	GM12878	blood:	n/a	n/a
2	MAX	chr11:67769976-67772199	MCF-7	breast:	n/a	chr11:67770222-67770231 chr11:67770217-67770236
3	MAX	chr11:67769956-67772210	A549	lung:	n/a	chr11:67770222-67770231 chr11:67770217-67770236
4	STAT5A	chr11:67769969-67770610	GM12878	blood:	n/a	n/a
5	MTA3	chr11:67769790-67770826	GM12878	blood:	n/a	n/a
6	ELF1	chr11:67769927-67771310	GM12878	blood:	n/a	chr11:67770351-67770362 chr11:67770352-67770361
7	POLR2A	chr11:67769911-67771840	GM12892	blood:	n/a	n/a
8	BHLHE40	chr11:67769526-67770501	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:67769917-67771750	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:67769905-67772098	HL-60	blood:	n/a	n/a
11	MXI1	chr11:67769684-67771885	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:67769907-67770278	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:67769999-67770605	GM12891	blood:	n/a	n/a
14	EBF1	chr11:67769901-67771250	GM12878	blood:	n/a	chr11:67770195-67770206
15	POLR2A	chr11:67769869-67771320	GM12878	blood:	n/a	n/a
16	CREB1	chr11:67769929-67771920	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:67769503-67771310	HL-60	blood:	n/a	n/a
18	MAX	chr11:67770025-67771211	GM12878	blood:	n/a	chr11:67770222-67770231 chr11:67770217-67770236
19	MAX	chr11:67770004-67772047	A549	lung:	n/a	chr11:67770222-67770231 chr11:67770217-67770236

No.	Distal block	Cell Line	Cell type
1	chr11:67763621..67766711-chr11:67769461..67772575,7	MCF-7	breast:
2	chr11:67762605..67767485-chr11:67767779..67773135,10	K562	blood:
3	chr11:67769721..67772110-chr11:67979489..67981755,3	MCF-7	breast:

Variant related genes	Relation type
UNC93B1	TF binding region
ENSG00000110066	Chromatin interaction
ENSG00000110057	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11228109	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11228110	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11228113	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12290997	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2240387	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2375186	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2375187	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3808970	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3808971	0.81[ASN][1000 genomes]
rs72940176	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7931196	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7932	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7952122	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
3	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
6	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
7	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
8	nsv428260	chr11:67524937-67797669	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
9	esv2758275	chr11:67524937-67859490	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
10	nsv469856	chr11:67639037-67859490	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
11	nsv482760	chr11:67639037-67859490	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
12	nsv1038960	chr11:67727827-67785555	Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
13	nsv1047567	chr11:67747160-67819790	Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
14	nsv8836	chr11:67752879-67819799	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
15	nsv983037	chr11:67756642-67778389	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
16	nsv897836	chr11:67757350-67816936	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
17	nsv897837	chr11:67757350-67821036	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
18	nsv897838	chr11:67757350-67833543	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
19	nsv482160	chr11:67758575-67771593	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
20	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
21	nsv1050471	chr11:67764068-67821610	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
22	nsv897839	chr11:67765056-67793014	Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
23	nsv468613	chr11:67765056-67794643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
24	nsv555277	chr11:67765056-67794643	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
25	nsv468614	chr11:67765056-67799926	ZNF genes & repeats Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
26	nsv897840	chr11:67765056-67804605	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
27	nsv468615	chr11:67765056-67816936	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
28	nsv555278	chr11:67765056-67816936	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
29	nsv897841	chr11:67765056-67816936	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
30	nsv469964	chr11:67765056-67821036	Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
31	nsv897842	chr11:67765056-67821036	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
32	nsv897843	chr11:67765056-67833543	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
33	nsv1046054	chr11:67768796-67819790	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	60 gene(s)	inside rSNPs	diseases
34	esv3372157	chr11:67769401-67772749	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57333975	RP5-903G2.2	cis	Thyroid	GTEx

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67759200-67770400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:67759200-67770400	Weak transcription	Right Atrium	heart
3	chr11:67762000-67770400	Weak transcription	NHLF	lung
4	chr11:67763800-67770400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:67764400-67770600	Weak transcription	Small Intestine	intestine
6	chr11:67764600-67770600	Weak transcription	Right Ventricle	heart
7	chr11:67764800-67770200	Weak transcription	Esophagus	oesophagus
8	chr11:67764800-67770400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:67765000-67770200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:67765000-67770400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:67765000-67770400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:67765000-67770800	Weak transcription	K562	blood
13	chr11:67765200-67770400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:67765400-67770200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:67765600-67770200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:67765600-67770400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:67766000-67770600	Weak transcription	Primary T cells from cord blood	blood
18	chr11:67766200-67770400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:67766200-67771400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:67766400-67770800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:67766400-67770800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:67767400-67770400	Weak transcription	Liver	Liver
23	chr11:67767600-67770200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:67767600-67770200	Weak transcription	Brain Anterior Caudate	brain
25	chr11:67767800-67770400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:67767800-67771200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:67768600-67770400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:67769000-67770800	Weak transcription	Osteobl	bone
29	chr11:67769200-67770600	Flanking Active TSS	GM12878-XiMat	blood
30	chr11:67769200-67771000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr11:67769400-67770400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:67769400-67770600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr11:67769600-67770400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:67769600-67770400	Enhancers	Brain Substantia Nigra	brain
35	chr11:67769600-67770400	Enhancers	Fetal Intestine Large	intestine
36	chr11:67769600-67770400	Bivalent Enhancer	Fetal Thymus	thymus
37	chr11:67769800-67770200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:67769800-67770200	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
39	chr11:67769800-67770200	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
40	chr11:67769800-67770200	Genic enhancers	Fetal Intestine Small	intestine
41	chr11:67769800-67770400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
42	chr11:67769800-67770400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr11:67769800-67770400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr11:67769800-67770400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:67769800-67770600	Enhancers	Primary hematopoietic stem cells	blood
46	chr11:67769800-67770800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr11:67770000-67770200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr11:67770000-67770200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:67770000-67770200	Flanking Active TSS	Colonic Mucosa	Colon
50	chr11:67770000-67770200	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links