Variant report

Variant	rs56129294
Chromosome Location	chr6:166971975-166971976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166970917..166973753-chr6:166974346..166977201,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3778395	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3778397	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3823202	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55731457	0.91[AFR][1000 genomes]
rs55830943	0.91[AFR][1000 genomes]
rs57559140	0.84[AFR][1000 genomes]
rs73788047	0.83[AFR][1000 genomes]
rs7770279	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7775422	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166960000-166972800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:166964800-166972000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:166965800-166972400	Enhancers	Fetal Muscle Leg	muscle
4	chr6:166966000-166973600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:166966000-166974200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:166966200-166978000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:166968000-166972000	Enhancers	Spleen	Spleen
8	chr6:166968000-166972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:166968200-166972400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:166968400-166985800	Weak transcription	Fetal Kidney	kidney
11	chr6:166968800-166973800	Enhancers	HMEC	breast
12	chr6:166969000-166972400	Enhancers	Fetal Muscle Trunk	muscle
13	chr6:166969000-166973800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:166969000-166974000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:166969200-166972200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:166969200-166972200	Enhancers	Esophagus	oesophagus
17	chr6:166969400-166978800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:166970200-166976200	Weak transcription	Right Ventricle	heart
19	chr6:166970400-166972400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr6:166970400-166972800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:166970800-166974000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:166970800-166979800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:166970800-166986200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:166971000-166972000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:166971000-166972000	Enhancers	Brain Cingulate Gyrus	brain
26	chr6:166971000-166972000	Weak transcription	Lung	lung
27	chr6:166971000-166972200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:166971000-166972400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:166971000-166972400	Enhancers	NHDF-Ad	bronchial
30	chr6:166971000-166972400	Enhancers	NHEK	skin
31	chr6:166971000-166972600	Enhancers	HUVEC	blood vessel
32	chr6:166971000-166973200	Enhancers	HSMM	muscle
33	chr6:166971000-166973400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:166971000-166973400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:166971000-166973400	Weak transcription	Ovary	ovary
36	chr6:166971000-166974000	Enhancers	Osteobl	bone
37	chr6:166971000-166974800	Weak transcription	Psoas Muscle	Psoas
38	chr6:166971000-166974800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:166971000-166975600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:166971000-166976600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:166971000-166986000	Weak transcription	Pancreas	Pancrea
42	chr6:166971200-166972200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:166971200-166972800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:166971200-166973000	Enhancers	HSMMtube	muscle
45	chr6:166971400-166972000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:166971400-166972200	Enhancers	Right Atrium	heart
47	chr6:166971400-166980200	Weak transcription	Brain Anterior Caudate	brain
48	chr6:166971600-166972000	Enhancers	Stomach Mucosa	stomach
49	chr6:166971600-166972200	Weak transcription	Primary T cells from cord blood	blood
50	chr6:166971600-166972200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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