Variant report

Variant	rs12550012
Chromosome Location	chr8:99640048-99640049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10755896	0.91[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10755897	0.90[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs11774463	0.91[CHD][hapmap]
rs12547297	0.91[CHD][hapmap]
rs12549803	0.91[CHD][hapmap]
rs12550783	0.86[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12675964	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12677183	0.91[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12679268	0.88[ASN][1000 genomes]
rs12680195	0.88[CHD][hapmap]
rs13269932	0.91[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs13271844	0.83[ASN][1000 genomes]
rs13275915	0.91[CHD][hapmap]
rs16897076	0.82[CHD][hapmap]
rs34114299	0.91[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs34477118	0.82[ASN][1000 genomes]
rs34855977	0.82[ASN][1000 genomes]
rs4131873	0.91[CHD][hapmap]
rs4279561	0.89[CHD][hapmap]
rs4509292	0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4517094	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs4549741	0.89[CHD][hapmap]
rs4612309	0.80[ASN][1000 genomes]
rs4734410	0.91[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4735569	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4735570	0.85[CHD][hapmap]
rs4735574	0.88[CHD][hapmap]
rs62535404	0.83[ASN][1000 genomes]
rs62535408	0.86[ASN][1000 genomes]
rs62535410	0.86[ASN][1000 genomes]
rs62535412	0.83[ASN][1000 genomes]
rs6651182	0.91[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs67186645	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6992925	0.90[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs72666669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666694	0.83[AMR][1000 genomes]
rs7816638	0.81[ASN][1000 genomes]
rs7818010	0.81[JPT][hapmap]
rs7818828	0.90[JPT][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	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99621800-99651400	Weak transcription	Left Ventricle	heart
2	chr8:99621800-99663000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:99625400-99643400	Weak transcription	NHEK	skin
4	chr8:99625600-99645000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:99626600-99642200	Weak transcription	Dnd41	blood
6	chr8:99630000-99662600	Weak transcription	Pancreas	Pancrea
7	chr8:99631800-99645400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:99632200-99646800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:99632200-99651400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:99633400-99652000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:99633600-99642200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:99633800-99650800	Weak transcription	Right Ventricle	heart
13	chr8:99634000-99643200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:99634400-99658000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:99635400-99651600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:99635600-99641200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:99636200-99642200	Weak transcription	Aorta	Aorta
18	chr8:99636200-99642600	Weak transcription	Esophagus	oesophagus
19	chr8:99636200-99649600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:99636200-99654000	Weak transcription	Lung	lung
21	chr8:99636200-99662600	Weak transcription	Fetal Intestine Small	intestine
22	chr8:99636200-99682400	Weak transcription	Fetal Stomach	stomach
23	chr8:99636400-99643200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:99636400-99643800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:99636400-99647600	Weak transcription	Fetal Intestine Large	intestine
26	chr8:99636400-99659200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:99636600-99643600	Weak transcription	Liver	Liver
28	chr8:99636600-99645400	Weak transcription	Adipose Nuclei	Adipose
29	chr8:99636600-99645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:99636600-99650200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:99636600-99651800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:99636600-99662800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:99636800-99646400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:99637000-99647000	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:99637200-99650200	Weak transcription	Placenta	Placenta
36	chr8:99637400-99656800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:99637600-99640400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:99637800-99643400	Weak transcription	Right Atrium	heart
39	chr8:99637800-99645400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:99638000-99648200	Weak transcription	HepG2	liver
41	chr8:99638200-99641800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:99638200-99652200	Weak transcription	Psoas Muscle	Psoas
43	chr8:99638200-99655600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:99638200-99671200	Weak transcription	GM12878-XiMat	blood
45	chr8:99638400-99643200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:99638400-99643200	Weak transcription	Fetal Lung	lung
47	chr8:99638400-99643400	Weak transcription	Ovary	ovary
48	chr8:99638600-99649600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:99639000-99647000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:99639200-99640200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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