Variant report

Variant	rs6916206
Chromosome Location	chr6:131318485-131318486
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131315063..131319748-chr6:131319876..131324209,7	MCF-7	breast:
2	chr6:131286503..131288563-chr6:131317280..131319051,2	K562	blood:

Variant related genes	Relation type
ENSG00000079819	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10457561	0.93[CEU][hapmap]
rs10457562	0.86[CEU][hapmap]
rs10457563	0.93[CEU][hapmap]
rs10872375	0.91[ASN][1000 genomes]
rs11154611	0.83[ASN][1000 genomes]
rs11760051	0.80[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs12195366	0.87[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs12196734	0.86[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs12197829	0.91[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs12203760	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12214021	0.93[ASN][1000 genomes]
rs1569195	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17059954	0.93[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs1976981	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2151068	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2178282	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28812545	0.94[ASN][1000 genomes]
rs3777432	0.86[CEU][hapmap]
rs4259270	0.94[ASN][1000 genomes]
rs4498389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62423583	0.82[ASN][1000 genomes]
rs6901548	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6902930	0.94[ASN][1000 genomes]
rs6903705	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6905151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6907809	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6921542	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6926372	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7763960	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7770892	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9321264	0.86[ASN][1000 genomes]
rs9372986	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9372987	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs9372989	0.86[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs9375784	0.81[ASN][1000 genomes]
rs9375785	0.87[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs9375787	0.81[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs9375788	0.81[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs9375789	0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs9375790	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9375794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9375795	0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs9375796	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs9375797	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9385567	0.86[CEU][hapmap]
rs9388860	0.86[CEU][hapmap]
rs9388873	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9388876	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs9398967	0.91[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs9398969	0.87[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs9398970	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9398971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9398972	0.94[ASN][1000 genomes]
rs9398973	0.94[ASN][1000 genomes]
rs9402301	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9402306	0.87[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9402310	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9402313	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9402314	0.93[ASN][1000 genomes]
rs9483210	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9492790	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9492792	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs951251	0.91[ASN][1000 genomes]
rs954919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6916206	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131306800-131320000	Weak transcription	Left Ventricle	heart
2	chr6:131312600-131321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:131314800-131322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:131314800-131325000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:131315200-131321400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:131315400-131318600	Weak transcription	Right Atrium	heart
7	chr6:131315400-131320000	Weak transcription	Right Ventricle	heart
8	chr6:131315600-131321800	Weak transcription	Pancreas	Pancrea
9	chr6:131315800-131318600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:131315800-131320000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:131315800-131321400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:131315800-131321800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:131315800-131321800	Weak transcription	Lung	lung
14	chr6:131315800-131323200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:131315800-131325800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:131316600-131319000	Enhancers	HUVEC	blood vessel
17	chr6:131316800-131319000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:131316800-131319000	Enhancers	Osteobl	bone
19	chr6:131316800-131319200	Enhancers	Fetal Lung	lung
20	chr6:131316800-131322200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:131317200-131318600	Enhancers	Brain Substantia Nigra	brain
22	chr6:131317200-131318800	Enhancers	NHLF	lung
23	chr6:131317200-131319000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:131317200-131319000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:131317200-131319000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:131317200-131319000	Enhancers	Adipose Nuclei	Adipose
27	chr6:131317200-131319000	Enhancers	HepG2	liver
28	chr6:131317400-131318600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:131317400-131318800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:131317400-131319000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:131317400-131319000	Enhancers	Fetal Stomach	stomach
32	chr6:131317400-131319000	Enhancers	HSMM	muscle
33	chr6:131317400-131319400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:131317400-131321600	Weak transcription	Stomach Mucosa	stomach
35	chr6:131317400-131322200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:131317600-131319000	Enhancers	Rectal Smooth Muscle	rectum
37	chr6:131317600-131320000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:131317600-131321400	Weak transcription	Fetal Intestine Large	intestine
39	chr6:131317600-131321800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:131317600-131321800	Weak transcription	Placenta	Placenta
41	chr6:131317600-131322200	Weak transcription	HMEC	breast
42	chr6:131317600-131322400	Weak transcription	Gastric	stomach
43	chr6:131317600-131323200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:131317800-131318800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:131317800-131319000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:131317800-131319000	Enhancers	NHDF-Ad	bronchial
47	chr6:131317800-131319200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr6:131318000-131318800	Enhancers	HSMMtube	muscle
49	chr6:131318000-131319000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:131318000-131319000	Enhancers	Small Intestine	intestine

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