Variant report

Variant	rs4710071
Chromosome Location	chr6:166997885-166997886
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	chr6:166987161..166988700-chr6:166996130..166998368,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10214670	0.86[JPT][hapmap]
rs12190451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3778382	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778384	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778385	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3778386	0.82[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3778390	0.86[EUR][1000 genomes]
rs3778391	0.86[EUR][1000 genomes]
rs3799584	0.90[CEU][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs3799597	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799598	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799600	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799602	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799603	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3799607	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4710069	0.95[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs4710070	0.95[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56064314	0.85[EUR][1000 genomes]
rs6928849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742514	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295353	0.95[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs9457187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457189	0.82[CHB][hapmap]

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	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
4	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
5	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4710071	DSP	trans	parietal	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166981800-167002400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:166986200-167002200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:166986600-167001400	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:166986800-167003000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:166987000-167002000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:166987200-166998400	Weak transcription	NH-A	brain
7	chr6:166987200-167001800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:166989000-167011400	Weak transcription	Ovary	ovary
9	chr6:166989600-167001800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:166990600-167001800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:166991600-166998800	Enhancers	Fetal Brain Male	brain
12	chr6:166992000-166998800	Enhancers	Fetal Muscle Leg	muscle
13	chr6:166992400-167000200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:166992400-167000400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:166993600-167003000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:166993800-167001800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:166994000-167003600	Weak transcription	Brain Germinal Matrix	brain
18	chr6:166994800-167002000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:166995000-167008400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:166995600-166998000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:166995600-167000200	Weak transcription	Brain Angular Gyrus	brain
22	chr6:166995600-167002400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:166995800-167000400	Weak transcription	Spleen	Spleen
24	chr6:166995800-167001200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:166995800-167001600	Weak transcription	Gastric	stomach
26	chr6:166995800-167002200	Weak transcription	Right Ventricle	heart
27	chr6:166996400-166998400	Weak transcription	HSMM	muscle
28	chr6:166996600-166998000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:166996600-166998000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:166996600-166998600	Enhancers	Rectal Smooth Muscle	rectum
31	chr6:166996600-166998800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr6:166996600-166998800	Genic enhancers	Muscle Satellite Cultured Cells	--
33	chr6:166996600-166999000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr6:166996600-166999000	Enhancers	Osteobl	bone
35	chr6:166996800-166998200	Enhancers	Left Ventricle	heart
36	chr6:166996800-166998600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr6:166996800-166998800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:166996800-166999000	Enhancers	Fetal Heart	heart
39	chr6:166996800-167000600	Weak transcription	Stomach Mucosa	stomach
40	chr6:166996800-167001400	Weak transcription	Brain Anterior Caudate	brain
41	chr6:166997000-166998600	Genic enhancers	Fetal Stomach	stomach
42	chr6:166997000-166998800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:166997000-167000400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:166997000-167000600	Weak transcription	Fetal Kidney	kidney
45	chr6:166997000-167002200	Weak transcription	Pancreas	Pancrea
46	chr6:166997000-167003000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr6:166997200-166998600	Enhancers	NHDF-Ad	bronchial
48	chr6:166997200-166998800	Enhancers	HSMMtube	muscle
49	chr6:166997200-167002000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:166997200-167002200	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links