Variant report

Variant	rs4651253
Chromosome Location	chr1:185338974-185338975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185334258..185337021-chr1:185337463..185339197,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10157996	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10737258	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10752948	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10911706	0.84[EUR][1000 genomes]
rs10911711	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2180071	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2207517	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2207518	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2207519	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2295212	0.84[EUR][1000 genomes]
rs6424975	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs6424976	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs6659669	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6665186	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6679327	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6682074	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6689206	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7519628	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7548599	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9988622	0.84[EUR][1000 genomes]

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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1008247	chr1:185321360-185345771	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4651253	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185334800-185342400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:185335000-185345000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:185336200-185339800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:185336400-185339800	Weak transcription	A549	lung
5	chr1:185336600-185342400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:185336600-185342800	Weak transcription	HMEC	breast
7	chr1:185336600-185343000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:185336600-185343000	Weak transcription	Esophagus	oesophagus
9	chr1:185336600-185345000	Weak transcription	Right Atrium	heart
10	chr1:185337400-185339000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:185337600-185339400	Enhancers	Stomach Mucosa	stomach
12	chr1:185337800-185339400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr1:185338200-185340000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:185338600-185339600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:185338600-185339600	Enhancers	Osteobl	bone
16	chr1:185338600-185341400	Weak transcription	HUVEC	blood vessel
17	chr1:185338800-185339000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:185338800-185339000	Enhancers	Gastric	stomach
19	chr1:185338800-185339400	Enhancers	NHEK	skin
20	chr1:185338800-185339600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:185338800-185339600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:185338800-185339600	Enhancers	NHDF-Ad	bronchial

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