Variant report

Variant	rs1007862
Chromosome Location	chr7:27404164-27404165
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	chr7:27402338..27404495-chr7:27407726..27411327,5	K562	blood:
2	chr7:27403084..27405273-chr7:27422070..27424632,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10155834	0.87[CHB][hapmap]
rs10240892	0.86[ASN][1000 genomes]
rs10245801	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10275933	0.87[CEU][hapmap];0.86[CHB][hapmap];0.82[EUR][1000 genomes]
rs10951165	0.81[JPT][hapmap]
rs11520770	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs11563380	0.86[JPT][hapmap]
rs11563447	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs11563567	0.86[JPT][hapmap]
rs11563574	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs11563971	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11563973	0.94[CEU][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes]
rs11563975	1.00[CEU][hapmap];0.82[CHB][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11563976	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11563980	0.83[YRI][hapmap]
rs11978918	0.86[JPT][hapmap]
rs12674312	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1547943	0.88[CEU][hapmap];0.86[CHB][hapmap];0.82[EUR][1000 genomes]
rs17429177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17429249	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17429270	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs17429361	0.82[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs17429641	0.86[JPT][hapmap]
rs17429648	0.86[JPT][hapmap]
rs17439000	0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs17439221	0.86[JPT][hapmap]
rs17439235	0.86[JPT][hapmap]
rs1990123	0.87[CHB][hapmap]
rs2003460	0.83[ASN][1000 genomes]
rs2106926	0.84[EUR][1000 genomes]
rs4298409	0.86[JPT][hapmap]
rs4357199	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4470906	0.86[JPT][hapmap]
rs4719886	0.82[CEU][hapmap];0.83[TSI][hapmap]
rs4719887	0.85[CHB][hapmap]
rs4719889	0.81[EUR][1000 genomes]
rs4722689	0.89[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs4722690	0.80[ASN][1000 genomes]
rs4722691	0.84[ASN][1000 genomes]
rs6945955	0.87[CHB][hapmap]
rs6971228	0.83[ASN][1000 genomes]
rs6978314	0.81[EUR][1000 genomes]
rs722562	0.83[ASN][1000 genomes]
rs722563	0.82[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs929242	0.81[JPT][hapmap]
rs9332393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27398200-27407400	Weak transcription	Pancreas	Pancrea
2	chr7:27401200-27404400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:27403200-27405000	Enhancers	Stomach Mucosa	stomach
4	chr7:27403400-27404200	Enhancers	Brain Cingulate Gyrus	brain
5	chr7:27403400-27404200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr7:27403400-27404600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr7:27403400-27404800	Enhancers	Placenta	Placenta
8	chr7:27403400-27405000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:27403400-27405000	Enhancers	Spleen	Spleen
10	chr7:27403600-27404200	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr7:27403600-27404800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:27403600-27404800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:27403600-27404800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:27403600-27404800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:27403600-27404800	Enhancers	Psoas Muscle	Psoas
16	chr7:27403800-27404200	Enhancers	Brain Anterior Caudate	brain
17	chr7:27403800-27404200	Active TSS	Colon Smooth Muscle	Colon
18	chr7:27403800-27404200	Enhancers	Duodenum Mucosa	Duodenum
19	chr7:27403800-27404200	Active TSS	Ovary	ovary
20	chr7:27403800-27404200	Flanking Active TSS	NHDF-Ad	bronchial
21	chr7:27403800-27404400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr7:27403800-27404400	Flanking Active TSS	Liver	Liver
23	chr7:27403800-27404400	Flanking Active TSS	Hela-S3	cervix
24	chr7:27403800-27404600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:27403800-27404600	Enhancers	Fetal Lung	lung
26	chr7:27403800-27404600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr7:27403800-27404800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:27403800-27404800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:27403800-27404800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr7:27403800-27404800	Flanking Active TSS	Osteobl	bone
31	chr7:27403800-27405000	Enhancers	Brain Substantia Nigra	brain
32	chr7:27404000-27404200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:27404000-27404200	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr7:27404000-27404200	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr7:27404000-27404200	Flanking Active TSS	K562	blood
36	chr7:27404000-27404400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:27404000-27404400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:27404000-27404400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:27404000-27404400	Active TSS	Brain Angular Gyrus	brain
40	chr7:27404000-27404400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr7:27404000-27404400	Enhancers	Fetal Muscle Leg	muscle
42	chr7:27404000-27404400	Flanking Active TSS	NHLF	lung
43	chr7:27404000-27404600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:27404000-27404600	Enhancers	HMEC	breast
45	chr7:27404000-27404800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:27404000-27404800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr7:27404000-27405200	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links