Variant report

Variant	rs3778395
Chromosome Location	chr6:166980336-166980337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:166975267..166978295-chr6:166978843..166980508,3	K562	blood:
2	chr6:166974194..166976909-chr6:166977553..166980494,3	K562	blood:
3	chr6:166964236..166966556-chr6:166978667..166980857,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs3778394	0.81[YRI][hapmap]
rs3778397	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823202	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55731457	0.88[AFR][1000 genomes]
rs55830943	0.88[AFR][1000 genomes]
rs56129294	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57559140	0.95[AFR][1000 genomes]
rs73788047	0.94[AFR][1000 genomes]
rs7770279	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7775422	0.92[LWK][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886941	chr6:166907173-166996991	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv5592	chr6:166958317-167002951	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1029530	chr6:166977678-167016052	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166968400-166985800	Weak transcription	Fetal Kidney	kidney
2	chr6:166970800-166986200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:166971000-166986000	Weak transcription	Pancreas	Pancrea
4	chr6:166972200-166986000	Weak transcription	Gastric	stomach
5	chr6:166973400-166984600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:166973800-166986000	Weak transcription	Fetal Intestine Small	intestine
7	chr6:166974000-166989600	Weak transcription	Primary T cells from cord blood	blood
8	chr6:166974200-166981600	Enhancers	Fetal Muscle Leg	muscle
9	chr6:166974400-166992400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:166974600-166981000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr6:166974800-166986000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:166975600-166981600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:166976200-166981600	Enhancers	Fetal Muscle Trunk	muscle
14	chr6:166976400-166988600	Weak transcription	Ovary	ovary
15	chr6:166977000-166983000	Weak transcription	Esophagus	oesophagus
16	chr6:166977600-166980400	Weak transcription	HUVEC	blood vessel
17	chr6:166977800-166985800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:166978000-166981600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:166978000-166981800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:166978000-166982200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:166978200-166981600	Enhancers	NHLF	lung
22	chr6:166978200-166984600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:166978200-166984600	Weak transcription	Fetal Brain Female	brain
24	chr6:166978400-166980400	Genic enhancers	Spleen	Spleen
25	chr6:166978600-166981600	Genic enhancers	Lung	lung
26	chr6:166978600-166983200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:166978600-166985800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:166978800-166980600	Enhancers	Psoas Muscle	Psoas
29	chr6:166978800-166981600	Enhancers	Left Ventricle	heart
30	chr6:166978800-166984800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:166979000-166980800	Enhancers	Right Atrium	heart
32	chr6:166979000-166981200	Enhancers	HSMMtube	muscle
33	chr6:166979000-166981800	Enhancers	HMEC	breast
34	chr6:166979000-166984800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:166979000-166985800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:166979200-166980600	Enhancers	Brain Angular Gyrus	brain
37	chr6:166979200-166980600	Enhancers	Brain Hippocampus Middle	brain
38	chr6:166979200-166981400	Weak transcription	Adipose Nuclei	Adipose
39	chr6:166979200-166981600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:166979200-166981800	Enhancers	NHEK	skin
41	chr6:166979200-166982600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:166979400-166980400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:166979400-166981600	Strong transcription	Fetal Stomach	stomach
44	chr6:166979400-166996600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:166979400-166997600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:166979600-166981000	Enhancers	Brain Cingulate Gyrus	brain
47	chr6:166979600-166981000	Enhancers	Right Ventricle	heart
48	chr6:166979600-166981400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:166979600-166981600	Enhancers	HSMM	muscle
50	chr6:166979600-166981600	Enhancers	NHDF-Ad	bronchial

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