Variant report

Variant	rs7821932
Chromosome Location	chr8:124630352-124630353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124630020..124633411-chr8:124643439..124646269,5	MCF-7	breast:
2	chr8:124618052..124619899-chr8:124628853..124631405,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10088524	1.00[JPT][hapmap]
rs10101723	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786123	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11786342	1.00[ASN][1000 genomes]
rs16898473	1.00[JPT][hapmap]
rs16898653	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17338685	1.00[JPT][hapmap]
rs28522167	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28587740	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609787	1.00[ASN][1000 genomes]
rs28859105	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59332090	1.00[ASN][1000 genomes]
rs62518566	1.00[ASN][1000 genomes]
rs7017648	1.00[JPT][hapmap]
rs73335895	1.00[ASN][1000 genomes]
rs73337515	1.00[ASN][1000 genomes]
rs7826158	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7821932	COL14A1	cis	cerebellum	SCAN
rs7821932	WDR67	cis	parietal	SCAN
rs7821932	TRMT12	cis	cerebellum	SCAN
rs7821932	FAM83A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124624000-124635200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:124625200-124634800	Weak transcription	Placenta	Placenta
3	chr8:124626000-124630400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:124626000-124631000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:124626000-124632000	Weak transcription	NHEK	skin
6	chr8:124626600-124631000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:124626600-124633200	Enhancers	Fetal Heart	heart
8	chr8:124626800-124632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:124627400-124632600	Enhancers	HSMM	muscle
10	chr8:124627400-124633000	Enhancers	HSMMtube	muscle
11	chr8:124628200-124632600	Enhancers	Fetal Muscle Leg	muscle
12	chr8:124628400-124632600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:124628400-124633000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:124628400-124633800	Enhancers	Osteobl	bone
15	chr8:124628600-124632800	Enhancers	Fetal Stomach	stomach
16	chr8:124629000-124630400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:124629000-124630400	Enhancers	Rectal Smooth Muscle	rectum
18	chr8:124629000-124630400	Enhancers	NHLF	lung
19	chr8:124629000-124630800	Enhancers	Fetal Lung	lung
20	chr8:124629200-124630400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr8:124629200-124631000	Weak transcription	NHDF-Ad	bronchial
22	chr8:124629200-124633000	Enhancers	Colon Smooth Muscle	Colon
23	chr8:124629200-124645400	Weak transcription	Aorta	Aorta
24	chr8:124629400-124631200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:124629600-124630400	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr8:124629600-124631600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:124629800-124630800	Enhancers	Ovary	ovary
28	chr8:124629800-124630800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr8:124629800-124631400	Enhancers	Duodenum Mucosa	Duodenum
30	chr8:124630000-124630400	Enhancers	Brain Anterior Caudate	brain
31	chr8:124630000-124630400	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:124630000-124630400	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr8:124630000-124630400	Enhancers	Small Intestine	intestine
34	chr8:124630000-124630800	Enhancers	Fetal Muscle Trunk	muscle
35	chr8:124630000-124630800	Enhancers	Right Atrium	heart
36	chr8:124630000-124630800	Enhancers	Right Ventricle	heart
37	chr8:124630000-124631600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr8:124630000-124631600	Enhancers	Left Ventricle	heart
39	chr8:124630000-124632000	Enhancers	Psoas Muscle	Psoas
40	chr8:124630000-124632200	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr8:124630200-124630400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr8:124630200-124630600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:124630200-124630600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:124630200-124630800	Weak transcription	Brain Angular Gyrus	brain
45	chr8:124630200-124630800	Weak transcription	NH-A	brain
46	chr8:124630200-124631000	Weak transcription	K562	blood
47	chr8:124630200-124631200	Weak transcription	HMEC	breast
48	chr8:124630200-124631800	Enhancers	Brain Hippocampus Middle	brain
49	chr8:124630200-124632600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links