Variant report

Variant	rs17734879
Chromosome Location	chr1:214680840-214680841
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214677645..214681280-chr1:214723322..214726744,5	MCF-7	breast:
2	chr1:214678638..214681169-chr1:214682598..214685287,2	MCF-7	breast:
3	chr1:214679463..214680976-chr1:214683287..214685488,2	K562	blood:

Variant related genes	Relation type
ENSG00000152104	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10494981	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11588026	0.83[ASN][1000 genomes]
rs17023144	0.88[AMR][1000 genomes]
rs17734395	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17734456	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17734758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17734993	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17791024	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17792674	0.82[CEU][hapmap]
rs35329321	1.00[CHB][hapmap]
rs4074425	1.00[ASN][1000 genomes]
rs4077549	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41307662	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4448491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4529685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4535975	1.00[ASN][1000 genomes]
rs6540846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6540847	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6675792	1.00[CHB][hapmap]
rs6701105	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6701315	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]
rs67542303	1.00[ASN][1000 genomes]
rs72759634	1.00[ASN][1000 genomes]
rs7550419	0.85[CEU][hapmap];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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
2	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
3	chr1:214671800-214686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:214674200-214685200	Weak transcription	HUVEC	blood vessel
5	chr1:214674200-214687200	Weak transcription	HSMMtube	muscle
6	chr1:214674400-214685000	Weak transcription	Fetal Stomach	stomach
7	chr1:214674600-214686800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:214676600-214681000	Enhancers	Stomach Mucosa	stomach
9	chr1:214676800-214681400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:214677000-214681600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:214677200-214690200	Weak transcription	Small Intestine	intestine
12	chr1:214678000-214686800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:214678200-214683400	Weak transcription	Gastric	stomach
14	chr1:214678200-214685400	Weak transcription	Esophagus	oesophagus
15	chr1:214678200-214687800	Weak transcription	Lung	lung
16	chr1:214678400-214681600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:214679000-214684000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:214679000-214687400	Weak transcription	Ovary	ovary
19	chr1:214679200-214681200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:214679200-214687800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:214679400-214681200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:214679400-214681200	Enhancers	Fetal Intestine Small	intestine
23	chr1:214679400-214681200	Enhancers	HMEC	breast
24	chr1:214679400-214683400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:214679600-214681400	Enhancers	Dnd41	blood
26	chr1:214679600-214687600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:214679800-214681000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:214679800-214682600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:214680000-214681000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr1:214680000-214681000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:214680000-214681000	Enhancers	NH-A	brain
32	chr1:214680000-214681200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:214680000-214681200	Flanking Active TSS	A549	lung
34	chr1:214680000-214681400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:214680000-214681400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:214680000-214681400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:214680000-214681400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr1:214680000-214681600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr1:214680000-214682000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:214680200-214681000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:214680200-214681000	Enhancers	Hela-S3	cervix
42	chr1:214680200-214681000	Enhancers	Osteobl	bone
43	chr1:214680200-214681200	Enhancers	Fetal Kidney	kidney
44	chr1:214680200-214681400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:214680200-214682400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:214680200-214685400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:214680400-214681000	Enhancers	Fetal Intestine Large	intestine
48	chr1:214680400-214681400	Enhancers	HepG2	liver
49	chr1:214680600-214681000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr1:214680600-214681000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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