Variant report

Variant	rs11691431
Chromosome Location	chr2:113013979-113013980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113008666..113014085-chr2:113030385..113035561,7	MCF-7	breast:
2	chr2:112640166..112643875-chr2:113008551..113014158,5	K562	blood:
3	chr2:113013051..113015199-chr2:113024386..113026807,2	K562	blood:
4	chr2:113010163..113016150-chr2:113027955..113035093,25	K562	blood:
5	chr2:112811348..112813831-chr2:113012320..113014362,3	K562	blood:
6	chr2:113009678..113014339-chr2:113236822..113240822,5	K562	blood:
7	chr2:113012601..113015047-chr2:113298969..113301494,2	K562	blood:
8	chr2:112811348..112812863-chr2:113012587..113014362,2	K562	blood:
9	chr2:113009256..113015419-chr2:113031181..113035814,11	MCF-7	breast:
10	chr2:113012803..113017644-chr2:113018976..113023020,5	K562	blood:
11	chr2:113013310..113014991-chr2:113340459..113342175,2	MCF-7	breast:
12	chr2:113010958..113014005-chr2:113340303..113342675,3	K562	blood:
13	chr2:113013729..113015547-chr2:113015611..113017197,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153214	Chromatin interaction
ENSG00000114999	Chromatin interaction
ENSG00000153107	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000238951	Chromatin interaction
ENSG00000188177	Chromatin interaction
ENSG00000125630	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10169159	0.94[ASN][1000 genomes]
rs10175234	0.86[ASN][1000 genomes]
rs10177573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10183121	0.94[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs10191002	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs10196933	0.84[AMR][1000 genomes]
rs10205038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211300	0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs10439391	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10864903	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11123132	0.94[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11674953	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11688418	0.95[ASN][1000 genomes]
rs11689487	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11691794	0.95[ASN][1000 genomes]
rs11903741	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs12620553	0.84[AMR][1000 genomes]
rs12711737	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12711738	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12711739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13387611	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs34623958	0.94[ASN][1000 genomes]
rs4299347	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4352239	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4392265	0.90[ASN][1000 genomes]
rs4399734	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4430968	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs4446076	0.90[ASN][1000 genomes]
rs4450606	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4456711	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4507112	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4522611	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs4525706	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4542853	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4578863	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4622729	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs4849056	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4849057	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542045	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6542048	0.89[ASN][1000 genomes]
rs6542050	0.90[ASN][1000 genomes]
rs6542051	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6706874	0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs6713344	1.00[LWK][hapmap]
rs6716010	0.88[ASN][1000 genomes]
rs6733138	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6745942	0.90[ASN][1000 genomes]
rs6751146	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6758110	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs6761599	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs71414636	0.81[ASN][1000 genomes]
rs72831684	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7557281	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7557862	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7571435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7591439	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs7598168	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7600338	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7601200	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap]
rs7601888	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv582703	chr2:112920219-113100014	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv874867	chr2:112930064-113038409	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv1805614	chr2:112949713-113048705	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
8	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs11691431	RGPD4///RGPD5///RGPD6///RGPD8	N/A	lymphoblastoid	RTeQTL
rs11691431	UBE2L3	trans	multi-tissue	Pritchard
rs11691431	MERTK	cis	multi-tissue	Pritchard
rs11691431	NME3	trans	multi-tissue	Pritchard
rs11691431	TMEM87B	cis	multi-tissue	Pritchard
rs11691431	FBLN7	cis	cerebellum	SCAN
rs11691431	POLR1B	cis	parietal	SCAN
rs11691431	NME3	cis	Liver	GTEx
rs11691431	SLC35F5	cis	cerebellum	SCAN
rs11691431	LOC653596	cis	multi-tissue	Pritchard
rs11691431	UBE2L3	cis	Liver	GTEx
rs11691431	FBLN7	cis	parietal	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113011600-113014000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:113012600-113014000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr2:113012600-113016800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:113012600-113016800	Weak transcription	Fetal Heart	heart
5	chr2:113012600-113017200	Weak transcription	Stomach Mucosa	stomach
6	chr2:113012800-113014000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr2:113012800-113017000	Weak transcription	Spleen	Spleen
8	chr2:113012800-113017200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:113013000-113014000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:113013000-113014000	Enhancers	Primary B cells from cord blood	blood
11	chr2:113013000-113014000	Enhancers	HUVEC	blood vessel
12	chr2:113013000-113014200	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:113013000-113014400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:113013000-113015200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:113013000-113015600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:113013000-113016800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:113013000-113016800	Weak transcription	Fetal Kidney	kidney
18	chr2:113013000-113017000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:113013000-113017000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:113013000-113017000	Weak transcription	Brain Angular Gyrus	brain
21	chr2:113013000-113017000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:113013000-113017000	Weak transcription	Fetal Lung	lung
23	chr2:113013000-113017000	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:113013000-113017000	Weak transcription	Psoas Muscle	Psoas
25	chr2:113013000-113017000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:113013000-113017000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:113013000-113017000	Weak transcription	HMEC	breast
28	chr2:113013000-113017000	Weak transcription	NH-A	brain
29	chr2:113013000-113017000	Weak transcription	NHDF-Ad	bronchial
30	chr2:113013000-113017000	Weak transcription	NHEK	skin
31	chr2:113013000-113017000	Weak transcription	NHLF	lung
32	chr2:113013000-113017200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:113013000-113017200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:113013000-113017200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:113013000-113017200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:113013000-113017200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:113013000-113017200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:113013000-113017200	Weak transcription	Pancreas	Pancrea
39	chr2:113013000-113017400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:113013000-113018200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:113013000-113018200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:113013200-113014000	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr2:113013200-113014000	Weak transcription	Fetal Intestine Large	intestine
44	chr2:113013200-113014200	Weak transcription	Fetal Intestine Small	intestine
45	chr2:113013200-113014600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:113013200-113015200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:113013200-113016200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:113013200-113016800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:113013200-113016800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:113013200-113016800	Weak transcription	Brain Cingulate Gyrus	brain

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