Variant report

Variant	rs17734395
Chromosome Location	chr1:214673445-214673446
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	chr1:214673174..214674823-chr1:214674925..214678786,3	K562	blood:
2	chr1:214665493..214668241-chr1:214672288..214674423,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10494981	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11588026	0.83[ASN][1000 genomes]
rs17023103	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17023144	1.00[CEU][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes]
rs17023155	0.82[GIH][hapmap]
rs17734456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17734758	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17734879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17734993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17791024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35329321	1.00[CHB][hapmap]
rs4074425	1.00[ASN][1000 genomes]
rs4077549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41307662	1.00[ASN][1000 genomes]
rs4448491	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4529685	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4535975	1.00[ASN][1000 genomes]
rs6540846	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6540847	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6540848	1.00[CEU][hapmap]
rs6662947	1.00[CEU][hapmap]
rs6675792	1.00[CHB][hapmap]
rs6698434	0.88[CEU][hapmap]
rs6701105	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6701315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67542303	1.00[ASN][1000 genomes]
rs72759634	1.00[ASN][1000 genomes]
rs7550419	1.00[CHB][hapmap];1.00[JPT][hapmap];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	nsv468094	chr1:214654965-214687725	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv549180	chr1:214654965-214687725	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214654400-214677400	Weak transcription	Gastric	stomach
2	chr1:214663200-214673600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:214665400-214676600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
5	chr1:214666600-214673800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:214666600-214675200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:214666600-214677600	Weak transcription	Pancreas	Pancrea
8	chr1:214668400-214673600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:214668400-214673600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:214668400-214677600	Weak transcription	Left Ventricle	heart
11	chr1:214668400-214678600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:214668400-214680400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:214668600-214673600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:214668600-214677400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:214668800-214674200	Weak transcription	Fetal Heart	heart
16	chr1:214669400-214674600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:214669800-214673600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:214669800-214673800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:214669800-214673800	Weak transcription	HSMMtube	muscle
20	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
21	chr1:214670000-214674200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:214670000-214676400	Weak transcription	A549	lung
23	chr1:214670000-214677000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:214670000-214677600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:214670000-214680000	Weak transcription	NH-A	brain
26	chr1:214670600-214673800	Weak transcription	NHEK	skin
27	chr1:214670800-214673800	Weak transcription	HMEC	breast
28	chr1:214671000-214674000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:214671200-214673800	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:214671600-214673800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:214671800-214673600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:214671800-214673600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:214671800-214674000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:214671800-214686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:214672000-214673800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:214672000-214677400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:214672200-214673600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:214672200-214673800	Enhancers	Primary T cells from cord blood	blood
39	chr1:214672200-214673800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:214672200-214673800	Enhancers	Psoas Muscle	Psoas
41	chr1:214672400-214673600	Weak transcription	HSMM	muscle
42	chr1:214672600-214677600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:214672800-214674600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:214672800-214675000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:214673000-214674200	Enhancers	HUVEC	blood vessel
46	chr1:214673200-214674000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:214673200-214674000	Enhancers	Placenta	Placenta
48	chr1:214673200-214674200	Enhancers	Ovary	ovary
49	chr1:214673200-214674200	Enhancers	NHDF-Ad	bronchial
50	chr1:214673200-214674200	Enhancers	NHLF	lung

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