Variant report

Variant	rs8043085
Chromosome Location	chr15:38828140-38828141
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:38744669..38746815-chr15:38826814..38828903,2	K562	blood:
2	chr15:38826156..38828538-chr15:38831547..38833888,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171262	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11073332	0.80[CHB][hapmap]
rs11073333	0.84[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11073334	0.84[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11073337	1.00[ASW][hapmap];0.92[CEU][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap];0.82[TSI][hapmap]
rs12593201	0.84[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28582094	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4924273	0.92[CEU][hapmap];0.80[MEX][hapmap]
rs6495979	0.92[CEU][hapmap]
rs7170151	0.92[CEU][hapmap]
rs7173565	0.88[CEU][hapmap]
rs72727387	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72727388	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7403531	0.90[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8032939	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs8035957	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949171	chr15:38232548-39033746	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv904085	chr15:38786114-38985513	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1046994	chr15:38806163-39239014	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv525770	chr15:38816833-39084956	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1054651	chr15:38827825-39082844	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv542358	chr15:38827825-39082844	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8043085	RASGRP1	Cis_1M	lymphoblastoid	RTeQTL
rs8043085	RASGRP1	cis	Esophagus Mucosa	GTEx
rs8043085	RASGRP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:38795600-38829400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr15:38804000-38841000	Weak transcription	Dnd41	blood
3	chr15:38812600-38845400	Weak transcription	Fetal Brain Female	brain
4	chr15:38814600-38836400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:38818600-38830200	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr15:38821400-38830000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
7	chr15:38822000-38829200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr15:38822600-38829400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:38823800-38828400	Strong transcription	Primary B cells from cord blood	blood
10	chr15:38823800-38828800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:38824800-38828400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:38824800-38829000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:38825000-38828800	Genic enhancers	Thymus	Thymus
14	chr15:38825200-38828800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr15:38825400-38828200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr15:38825600-38838800	Weak transcription	GM12878-XiMat	blood
17	chr15:38825800-38828200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:38825800-38830600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr15:38826000-38829800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr15:38826200-38830400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:38826200-38830800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr15:38826400-38832400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr15:38826800-38829000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr15:38827000-38828200	Enhancers	HSMMtube	muscle
25	chr15:38827000-38829000	Enhancers	Adipose Nuclei	Adipose
26	chr15:38827000-38829600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:38827000-38829800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:38827000-38829800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:38827000-38830000	Enhancers	Osteobl	bone
30	chr15:38827000-38830200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:38827200-38828200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr15:38827200-38828600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr15:38827200-38828600	Enhancers	HSMM	muscle
34	chr15:38827200-38828800	Enhancers	Brain Hippocampus Middle	brain
35	chr15:38827200-38829400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:38827200-38829400	Enhancers	Brain Cingulate Gyrus	brain
37	chr15:38827200-38829600	Enhancers	NHDF-Ad	bronchial
38	chr15:38827200-38830000	Genic enhancers	Primary T cells from cord blood	blood
39	chr15:38827400-38828600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr15:38827400-38829200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr15:38827400-38853800	Weak transcription	Esophagus	oesophagus
42	chr15:38827600-38828400	Enhancers	Fetal Brain Male	brain
43	chr15:38827600-38828800	Enhancers	Brain Anterior Caudate	brain
44	chr15:38827600-38828800	Enhancers	Placenta	Placenta
45	chr15:38827600-38829200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr15:38827600-38829400	Enhancers	NH-A	brain
47	chr15:38827600-38830600	Weak transcription	Fetal Thymus	thymus
48	chr15:38827800-38828400	Enhancers	Lung	lung
49	chr15:38827800-38829000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr15:38828000-38828400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links