Variant report

Variant	rs971152
Chromosome Location	chr6:166969936-166969937
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166969437..166971704-chr6:167039008..167042376,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071242	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9355584	0.80[GIH][hapmap]

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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs971152	C6orf208	cis	cerebellum	SCAN
rs971152	PHF10	cis	parietal	SCAN
rs971152	PARK2	cis	parietal	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166955200-166970600	Weak transcription	Pancreas	Pancrea
2	chr6:166955200-166970600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:166960000-166972800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:166961200-166970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:166964800-166972000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:166965600-166971000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:166965800-166972400	Enhancers	Fetal Muscle Leg	muscle
8	chr6:166966000-166973600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:166966000-166974200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:166966200-166970000	Enhancers	Brain Hippocampus Middle	brain
11	chr6:166966200-166971200	Enhancers	Left Ventricle	heart
12	chr6:166966200-166978000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:166966400-166970400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:166966400-166970800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:166966600-166970000	Enhancers	Brain Anterior Caudate	brain
16	chr6:166966600-166970200	Enhancers	Right Ventricle	heart
17	chr6:166966600-166970800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:166966800-166970400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:166967000-166971200	Enhancers	Brain Angular Gyrus	brain
20	chr6:166967200-166970000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr6:166967600-166970400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr6:166967600-166970600	Enhancers	HUVEC	blood vessel
23	chr6:166967600-166971000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:166967600-166971000	Enhancers	Adipose Nuclei	Adipose
25	chr6:166967600-166971000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:166967600-166971800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:166967800-166970000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:166968000-166970000	Enhancers	NHDF-Ad	bronchial
29	chr6:166968000-166972000	Enhancers	Spleen	Spleen
30	chr6:166968000-166972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:166968200-166970000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:166968200-166970000	Weak transcription	Liver	Liver
33	chr6:166968200-166972400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:166968400-166970400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:166968400-166985800	Weak transcription	Fetal Kidney	kidney
36	chr6:166968800-166970600	Weak transcription	Ovary	ovary
37	chr6:166968800-166970800	Enhancers	HSMMtube	muscle
38	chr6:166968800-166971000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr6:166968800-166971600	Weak transcription	NHLF	lung
40	chr6:166968800-166973800	Enhancers	HMEC	breast
41	chr6:166969000-166970800	Enhancers	Gastric	stomach
42	chr6:166969000-166971000	Enhancers	Psoas Muscle	Psoas
43	chr6:166969000-166971000	Enhancers	Right Atrium	heart
44	chr6:166969000-166972400	Enhancers	Fetal Muscle Trunk	muscle
45	chr6:166969000-166973800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:166969000-166974000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:166969200-166970600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:166969200-166970600	Weak transcription	Fetal Brain Male	brain
49	chr6:166969200-166972200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:166969200-166972200	Enhancers	Esophagus	oesophagus

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