Variant report

Variant	rs11783141
Chromosome Location	chr8:48256728-48256729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10086987	0.80[EUR][1000 genomes]
rs10102598	0.80[EUR][1000 genomes]
rs1038797	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10808752	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10957074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11774001	0.93[EUR][1000 genomes]
rs11775514	0.89[EUR][1000 genomes]
rs11775628	0.88[EUR][1000 genomes]
rs11779308	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs11779423	0.82[EUR][1000 genomes]
rs11781727	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11784823	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs11785228	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12541086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12543823	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12547513	0.92[EUR][1000 genomes]
rs12550067	0.80[EUR][1000 genomes]
rs12680669	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12682269	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13259872	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs13259913	0.93[EUR][1000 genomes]
rs16925242	0.92[YRI][hapmap]
rs2087656	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2130879	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2172121	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2362554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34099416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35045730	0.91[EUR][1000 genomes]
rs4242439	0.82[EUR][1000 genomes]
rs4388466	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs4495437	0.80[EUR][1000 genomes]
rs4498545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4536257	0.94[JPT][hapmap]
rs4872957	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs4873102	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4873106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4873292	0.82[ASN][1000 genomes]
rs4873293	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4873368	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs6472229	0.92[EUR][1000 genomes]
rs6981790	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6990123	0.94[EUR][1000 genomes]
rs6994218	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012341	0.92[EUR][1000 genomes]
rs7819806	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs7826284	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7839134	0.92[EUR][1000 genomes]
rs876915	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs902619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48207400-48258000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:48209400-48266000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:48228600-48265800	Weak transcription	K562	blood
4	chr8:48230400-48267400	Weak transcription	Spleen	Spleen
5	chr8:48238800-48274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:48239000-48265800	Weak transcription	Aorta	Aorta
7	chr8:48247800-48276400	Weak transcription	Colonic Mucosa	Colon
8	chr8:48248800-48309600	Weak transcription	Thymus	Thymus
9	chr8:48249200-48265600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:48249200-48282000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:48249800-48266000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:48249800-48267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:48249800-48277400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:48249800-48277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:48251800-48258000	Weak transcription	Psoas Muscle	Psoas
16	chr8:48252400-48265000	Weak transcription	HSMMtube	muscle
17	chr8:48253400-48267200	Weak transcription	Lung	lung
18	chr8:48253400-48274400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:48253600-48273800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:48253800-48264800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:48254400-48257200	Weak transcription	Small Intestine	intestine
22	chr8:48254400-48260000	Weak transcription	HepG2	liver
23	chr8:48254600-48262200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:48254600-48265000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:48254600-48265000	Weak transcription	A549	lung
26	chr8:48254600-48268400	Weak transcription	Gastric	stomach
27	chr8:48254800-48261800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:48254800-48261800	Weak transcription	Fetal Intestine Large	intestine
29	chr8:48254800-48263400	Weak transcription	Hela-S3	cervix
30	chr8:48254800-48264400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:48254800-48265000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:48255000-48265800	Weak transcription	Ovary	ovary
33	chr8:48255200-48256800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:48255200-48261800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:48255600-48261800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:48256000-48256800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr8:48256000-48256800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:48256000-48256800	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr8:48256000-48256800	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr8:48256000-48256800	ZNF genes & repeats	Fetal Stomach	stomach
41	chr8:48256200-48257600	Weak transcription	HMEC	breast
42	chr8:48256200-48261800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:48256200-48264600	Weak transcription	Pancreas	Pancrea
44	chr8:48256200-48274200	Weak transcription	Esophagus	oesophagus
45	chr8:48256400-48261000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:48256400-48261200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:48256400-48261800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:48256400-48263600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:48256400-48264800	Weak transcription	NHEK	skin
50	chr8:48256400-48272200	Weak transcription	GM12878-XiMat	blood

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