Variant report

Variant	rs624191
Chromosome Location	chr15:40092835-40092836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16952190	0.90[GIH][hapmap]
rs172104	0.92[CEU][hapmap];0.84[AMR][1000 genomes]
rs275716	0.89[AMR][1000 genomes]
rs275717	0.85[AMR][1000 genomes]
rs275718	0.84[AMR][1000 genomes]
rs275719	0.85[AMR][1000 genomes]
rs676455	0.84[AMR][1000 genomes]
rs8033687	0.83[JPT][hapmap]

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	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs624191	RASGRP1	cis	cerebellum	SCAN
rs624191	RPAP1	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40076000-40103200	Weak transcription	Right Atrium	heart
2	chr15:40077200-40093200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:40077600-40094600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:40080000-40095600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:40080400-40095000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:40081200-40093400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:40081400-40100200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:40086000-40095600	Weak transcription	HUVEC	blood vessel
9	chr15:40086400-40093600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:40088000-40095000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:40088800-40094600	Strong transcription	Osteobl	bone
12	chr15:40089600-40094400	Strong transcription	Aorta	Aorta
13	chr15:40089600-40094400	Strong transcription	HSMM	muscle
14	chr15:40089600-40099400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:40089800-40094400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr15:40089800-40094400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:40090000-40094600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:40090200-40094400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:40090200-40094400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:40090200-40094400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:40090400-40094000	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr15:40090400-40094400	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr15:40090400-40099000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:40090400-40099400	Strong transcription	NHLF	lung
25	chr15:40090600-40094600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:40091000-40102600	Weak transcription	Adipose Nuclei	Adipose
27	chr15:40091600-40094400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:40091600-40095800	Weak transcription	HMEC	breast
29	chr15:40091800-40099400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:40092000-40093400	Weak transcription	Spleen	Spleen
31	chr15:40092000-40094200	Weak transcription	Gastric	stomach
32	chr15:40092000-40094600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr15:40092000-40094600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:40092000-40095200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:40092200-40094000	Strong transcription	NH-A	brain
36	chr15:40092200-40094400	Strong transcription	NHDF-Ad	bronchial
37	chr15:40092200-40094600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:40092400-40093200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:40092400-40094400	Strong transcription	HSMMtube	muscle
40	chr15:40092400-40095200	Weak transcription	Fetal Stomach	stomach
41	chr15:40092400-40096200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr15:40092600-40094400	Strong transcription	NHEK	skin
43	chr15:40092600-40094600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr15:40092600-40094600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:40092600-40096000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr15:40092800-40094400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr15:40092800-40098200	Weak transcription	Brain Cingulate Gyrus	brain

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