Variant report

Variant	rs1178172
Chromosome Location	chr7:18794541-18794542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11764116	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1178121	0.85[CEU][hapmap]
rs1178122	0.90[CEU][hapmap]
rs1178123	0.90[CEU][hapmap]
rs1178124	0.90[CEU][hapmap]
rs1178128	0.90[CEU][hapmap]
rs1178129	0.90[CEU][hapmap]
rs1178130	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs1178131	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs1178132	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs1178133	0.90[CEU][hapmap]
rs1178142	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs1178143	0.89[EUR][1000 genomes]
rs1178146	0.81[EUR][1000 genomes]
rs1178147	0.83[EUR][1000 genomes]
rs1178148	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1178149	0.84[EUR][1000 genomes]
rs1178150	0.93[EUR][1000 genomes]
rs1178151	0.85[EUR][1000 genomes]
rs1178152	0.93[EUR][1000 genomes]
rs1178153	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1178154	0.86[EUR][1000 genomes]
rs1178155	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs1178156	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1178158	0.96[ASN][1000 genomes]
rs1178159	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1178160	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1178162	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1178164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1178165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1178166	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1178171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1178174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1178176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1178179	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212672	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212674	0.91[EUR][1000 genomes]
rs3852249	0.82[ASN][1000 genomes]
rs727851	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs894978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830917	chr7:18612436-18817712	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv531368	chr7:18677922-18836920	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv887814	chr7:18751998-18886177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2757218	chr7:18767714-18801340	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2759516	chr7:18767714-18801340	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18765200-18810600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:18787400-18801800	Weak transcription	Psoas Muscle	Psoas
3	chr7:18787800-18810800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:18788800-18801800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr7:18789000-18807800	Weak transcription	Aorta	Aorta
6	chr7:18789000-18808600	Weak transcription	Left Ventricle	heart
7	chr7:18790600-18835000	Weak transcription	Primary B cells from cord blood	blood
8	chr7:18793400-18794600	Enhancers	NHLF	lung
9	chr7:18793400-18794800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:18793600-18794800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:18793600-18794800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:18793600-18794800	Flanking Active TSS	NHDF-Ad	bronchial
13	chr7:18793800-18794800	Flanking Active TSS	NH-A	brain
14	chr7:18794000-18794800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:18794200-18794600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:18794200-18794600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:18794200-18794600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr7:18794200-18794600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:18794200-18794600	Enhancers	Adipose Nuclei	Adipose
20	chr7:18794200-18794600	Flanking Active TSS	HSMM	muscle
21	chr7:18794200-18794600	Flanking Active TSS	HSMMtube	muscle
22	chr7:18794200-18794800	Flanking Active TSS	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links