Variant report

Variant	rs3777505
Chromosome Location	chr6:75880623-75880624
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10484915	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12176508	0.95[ASN][1000 genomes]
rs12198145	0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs12215389	0.94[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.97[ASN][1000 genomes]
rs1323069	1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap];0.93[ASN][1000 genomes]
rs1474847	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs16886237	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16886240	0.97[ASN][1000 genomes]
rs171264	0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs240363	0.88[MEX][hapmap]
rs240370	0.88[ASN][1000 genomes]
rs240399	0.88[CHD][hapmap]
rs240408	0.85[ASN][1000 genomes]
rs240411	0.85[ASN][1000 genomes]
rs240413	0.88[ASN][1000 genomes]
rs240414	0.94[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.97[ASN][1000 genomes]
rs240415	0.97[ASN][1000 genomes]
rs240417	0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs240418	0.88[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs240721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240741	0.82[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap]
rs3756791	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs3777507	0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs3777508	0.97[ASN][1000 genomes]
rs3777509	0.97[ASN][1000 genomes]
rs3777510	0.94[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.95[ASN][1000 genomes]
rs511970	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs73463812	0.97[ASN][1000 genomes]
rs73747435	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73747437	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs743004	0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.89[MEX][hapmap];0.95[ASN][1000 genomes]
rs9293997	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs9360895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022377	chr6:75762463-75919592	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv538309	chr6:75762463-75919592	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv830697	chr6:75763095-75915029	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv886181	chr6:75852488-75919484	Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75862400-75881000	Weak transcription	Aorta	Aorta
2	chr6:75862400-75884200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:75862400-75885000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:75862400-75885600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:75862400-75888600	Weak transcription	Fetal Intestine Large	intestine
6	chr6:75862400-75889800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:75865000-75884400	Weak transcription	NH-A	brain
8	chr6:75866200-75884800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:75866400-75884600	Weak transcription	NHEK	skin
10	chr6:75866800-75880800	Weak transcription	HMEC	breast
11	chr6:75871000-75884000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:75875400-75884200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:75875600-75884000	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:75876200-75883800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:75876400-75880800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:75877200-75900200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:75877400-75888800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:75877600-75905800	Strong transcription	HSMM	muscle
19	chr6:75877800-75884200	Weak transcription	HSMMtube	muscle
20	chr6:75878200-75881000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:75878200-75881400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:75878600-75881800	Weak transcription	Fetal Heart	heart
23	chr6:75878600-75882600	Weak transcription	Lung	lung
24	chr6:75878800-75881000	Weak transcription	Ovary	ovary
25	chr6:75878800-75882400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:75878800-75884600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:75879000-75881800	Enhancers	Rectal Smooth Muscle	rectum
28	chr6:75879000-75882800	Enhancers	Fetal Lung	lung
29	chr6:75879200-75880800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:75879200-75884400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:75879800-75881400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:75880000-75881400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:75880000-75881800	Genic enhancers	NHLF	lung
34	chr6:75880000-75882200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:75880200-75881000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:75880200-75881600	Enhancers	Colon Smooth Muscle	Colon
37	chr6:75880200-75881600	Enhancers	Fetal Intestine Small	intestine
38	chr6:75880200-75882000	Enhancers	Adipose Nuclei	Adipose
39	chr6:75880400-75880800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:75880400-75880800	Genic enhancers	NHDF-Ad	bronchial
41	chr6:75880400-75881400	Enhancers	Brain Germinal Matrix	brain
42	chr6:75880400-75881400	Enhancers	Fetal Kidney	kidney
43	chr6:75880400-75881800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr6:75880400-75882200	Enhancers	HUVEC	blood vessel
45	chr6:75880400-75882400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:75880400-75882600	Genic enhancers	Osteobl	bone
47	chr6:75880600-75881600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:75880600-75881600	Enhancers	Fetal Stomach	stomach
49	chr6:75880600-75888200	Weak transcription	Duodenum Mucosa	Duodenum

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