Variant report

Variant	rs3808970
Chromosome Location	chr11:67772388-67772389
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67771380-67772874	HCT-116	colon:	n/a	n/a
2	RCOR1	chr11:67771342-67772461	IMR90	lung:	n/a	n/a
3	FOXA1	chr11:67772355-67772684	T-47D	breast:	n/a	n/a
4	FOXA1	chr11:67772315-67772729	T-47D	breast:	n/a	n/a
5	YY1	chr11:67772339-67772711	HCT-116	colon:	n/a	n/a
6	POLR2A	chr11:67772210-67772872	HCT-116	colon:	n/a	n/a
7	POLR2A	chr11:67772188-67772778	HCT-116	colon:	n/a	n/a
8	HCFC1	chr11:67771357-67772412	Hela-S3	cervix:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67763621..67766711-chr11:67769461..67772575,7	MCF-7	breast:
2	chr11:67770218..67773172-chr11:67805064..67808057,3	K562	blood:
3	chr11:67772162..67773973-chr11:67887199..67889790,2	K562	blood:
4	chr11:67770112..67773137-chr11:67777240..67779852,3	K562	blood:
5	chr11:67770998..67775364-chr11:67887455..67891345,5	MCF-7	breast:
6	chr11:67771335..67773099-chr11:67888319..67890316,2	MCF-7	breast:
7	chr11:67762605..67767485-chr11:67767779..67773135,10	K562	blood:
8	chr11:67770129..67772999-chr11:67979313..67982279,4	K562	blood:
9	chr11:67770463..67774040-chr11:67774088..67778740,6	K562	blood:
10	chr11:67770966..67773282-chr11:67774269..67777181,2	K562	blood:
11	chr11:67770338..67773597-chr11:67780108..67784129,5	K562	blood:

No data

Variant related genes	Relation type
ALDH3B1	TF binding region
UNC93B1	TF binding region
ENSG00000110066	Chromatin interaction
ENSG00000110719	Chromatin interaction
ENSG00000006534	Chromatin interaction
ENSG00000255236	Chromatin interaction
ENSG00000110057	Chromatin interaction
ENSG00000110721	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2240387	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3808971	0.86[ASN][1000 genomes]
rs57333975	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72926415	0.87[EUR][1000 genomes]
rs72940176	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7952122	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 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	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
rs3808970	RP5-903G2.2	cis	Thyroid	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67770000-67772400	Enhancers	Stomach Mucosa	stomach
2	chr11:67770400-67772600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:67771600-67772400	Flanking Bivalent TSS/Enh	Dnd41	blood
4	chr11:67771600-67772400	Flanking Active TSS	HepG2	liver
5	chr11:67771600-67772800	Enhancers	Spleen	Spleen
6	chr11:67771600-67777200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:67771600-67797600	Weak transcription	Small Intestine	intestine
8	chr11:67771800-67772400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:67772000-67772400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr11:67772000-67772400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr11:67772000-67772400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr11:67772000-67772400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr11:67772000-67772400	Enhancers	Fetal Intestine Small	intestine
14	chr11:67772000-67772400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr11:67772000-67772400	Bivalent Enhancer	Placenta	Placenta
16	chr11:67772000-67772400	Bivalent Enhancer	Thymus	Thymus
17	chr11:67772000-67772600	Enhancers	Primary hematopoietic stem cells	blood
18	chr11:67772000-67772600	Enhancers	Brain Substantia Nigra	brain
19	chr11:67772000-67772600	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr11:67772000-67772600	Bivalent Enhancer	Fetal Stomach	stomach
21	chr11:67772000-67772600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr11:67772000-67772600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr11:67772000-67772800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:67772000-67772800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:67772000-67772800	Enhancers	Lung	lung
26	chr11:67772000-67773000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:67772000-67773000	Enhancers	A549	lung
28	chr11:67772000-67775600	Weak transcription	Fetal Heart	heart
29	chr11:67772000-67775800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:67772000-67775800	Weak transcription	Liver	Liver
31	chr11:67772000-67775800	Weak transcription	Esophagus	oesophagus
32	chr11:67772000-67776000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr11:67772000-67776400	Weak transcription	Brain Angular Gyrus	brain
34	chr11:67772000-67776400	Weak transcription	Ovary	ovary
35	chr11:67772000-67776600	Weak transcription	Right Atrium	heart
36	chr11:67772000-67776600	Weak transcription	NH-A	brain
37	chr11:67772000-67776600	Weak transcription	NHDF-Ad	bronchial
38	chr11:67772000-67776800	Weak transcription	Osteobl	bone
39	chr11:67772000-67777000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:67772000-67777200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:67772200-67772400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:67772200-67772400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr11:67772200-67772400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:67772200-67772400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:67772200-67772400	Active TSS	Brain Anterior Caudate	brain
46	chr11:67772200-67772400	Active TSS	Duodenum Mucosa	Duodenum
47	chr11:67772200-67772600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:67772200-67772600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr11:67772200-67772600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:67772200-67772600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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