Variant report

Variant	rs12673415
Chromosome Location	chr7:47846164-47846165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12666913	0.92[ASN][1000 genomes]
rs12671226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453288	0.86[CHD][hapmap]
rs17545292	0.83[CHD][hapmap]
rs17659711	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17659956	1.00[ASW][hapmap];1.00[GIH][hapmap]
rs17710633	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17710675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1869322	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1869323	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2348460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2348462	1.00[ASW][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap]
rs3734933	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4724645	1.00[ASW][hapmap];0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62448545	0.82[ASN][1000 genomes]
rs62448548	0.82[ASN][1000 genomes]
rs62448549	0.82[ASN][1000 genomes]
rs62448550	0.82[ASN][1000 genomes]
rs62448553	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62448554	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6949512	0.88[CHD][hapmap];0.82[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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47817200-47846600	Weak transcription	Left Ventricle	heart
2	chr7:47823400-47847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:47823400-47849400	Weak transcription	Psoas Muscle	Psoas
4	chr7:47823400-47852200	Weak transcription	Right Ventricle	heart
5	chr7:47827000-47851400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:47834400-47847000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:47838400-47853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:47838800-47847800	Enhancers	HepG2	liver
9	chr7:47840800-47847400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:47842000-47846600	Enhancers	Fetal Intestine Small	intestine
11	chr7:47842200-47846600	Weak transcription	HMEC	breast
12	chr7:47842400-47846600	Weak transcription	Esophagus	oesophagus
13	chr7:47842600-47852000	Weak transcription	Gastric	stomach
14	chr7:47843200-47846800	Enhancers	HSMM	muscle
15	chr7:47844400-47846400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:47844400-47846800	Enhancers	NHLF	lung
17	chr7:47844400-47847400	Enhancers	HUVEC	blood vessel
18	chr7:47844400-47848400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr7:47844600-47847400	Enhancers	Ovary	ovary
20	chr7:47844600-47848000	Enhancers	Spleen	Spleen
21	chr7:47845000-47846200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:47845000-47846400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr7:47845000-47846400	Enhancers	Right Atrium	heart
24	chr7:47845000-47846400	Weak transcription	Osteobl	bone
25	chr7:47845000-47846600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:47845000-47846800	Enhancers	Fetal Intestine Large	intestine
27	chr7:47845000-47848200	Enhancers	Lung	lung
28	chr7:47845200-47846400	Enhancers	Adipose Nuclei	Adipose
29	chr7:47845200-47846600	Weak transcription	NHEK	skin
30	chr7:47845200-47847800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:47845200-47847800	Enhancers	Pancreas	Pancrea
32	chr7:47845400-47846600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:47845400-47846800	Enhancers	Aorta	Aorta
34	chr7:47845400-47847000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:47845400-47847400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:47845400-47847400	Enhancers	Fetal Heart	heart
37	chr7:47845600-47847400	Enhancers	Liver	Liver
38	chr7:47845600-47848200	Enhancers	Placenta	Placenta
39	chr7:47845600-47852400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:47845800-47846400	Enhancers	Stomach Smooth Muscle	stomach
41	chr7:47845800-47846600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:47845800-47847000	Enhancers	Colon Smooth Muscle	Colon
43	chr7:47845800-47847000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr7:47845800-47847000	Enhancers	Fetal Stomach	stomach
45	chr7:47845800-47847200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:47845800-47847200	Enhancers	Duodenum Mucosa	Duodenum
47	chr7:47845800-47847400	Enhancers	Fetal Muscle Leg	muscle
48	chr7:47845800-47847600	Enhancers	Primary hematopoietic stem cells	blood
49	chr7:47845800-47847600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr7:47845800-47847600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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