Variant report

Variant	rs11631591
Chromosome Location	chr15:38850262-38850263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11073337	0.91[EUR][1000 genomes]
rs12593201	0.90[EUR][1000 genomes]
rs28582094	0.88[EUR][1000 genomes]
rs4924273	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6495979	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7170151	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7173565	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727387	0.87[EUR][1000 genomes]
rs72727388	0.87[EUR][1000 genomes]
rs8032939	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8035957	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv904086	chr15:38829198-38931396	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11631591	RASGRP1	cis	Skin Sun Exposed Lower leg	GTEx
rs11631591	RASGRP1	Cis_1M	lymphoblastoid	RTeQTL
rs11631591	RASGRP1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:38827400-38853800	Weak transcription	Esophagus	oesophagus
2	chr15:38828000-38851000	Weak transcription	Spleen	Spleen
3	chr15:38836200-38855800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:38838600-38850400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr15:38841600-38854400	Weak transcription	Dnd41	blood
6	chr15:38844800-38854600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr15:38845200-38854200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:38845800-38852000	Weak transcription	Stomach Mucosa	stomach
9	chr15:38846200-38851000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:38846400-38850800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:38846800-38850800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:38847200-38855800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:38847800-38850800	Weak transcription	Brain Anterior Caudate	brain
14	chr15:38848200-38851600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:38848200-38852000	Weak transcription	Pancreas	Pancrea
16	chr15:38848200-38852200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
17	chr15:38848400-38851000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:38848600-38851000	Weak transcription	Fetal Brain Male	brain
19	chr15:38848600-38852200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:38848600-38852400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
21	chr15:38848600-38852800	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr15:38848800-38850600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:38848800-38850600	Weak transcription	NHLF	lung
24	chr15:38848800-38851000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:38848800-38851000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
26	chr15:38848800-38851000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr15:38848800-38852400	Genic enhancers	Thymus	Thymus
28	chr15:38848800-38854000	Genic enhancers	Fetal Thymus	thymus
29	chr15:38849000-38850800	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr15:38849000-38851000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:38849200-38852200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
32	chr15:38849400-38850600	Genic enhancers	Primary B cells from cord blood	blood
33	chr15:38849400-38850600	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:38849400-38850600	Enhancers	K562	blood
35	chr15:38849400-38851200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:38849600-38850400	Weak transcription	Fetal Intestine Large	intestine
37	chr15:38849600-38851000	Weak transcription	Fetal Kidney	kidney
38	chr15:38849600-38852200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr15:38849600-38852600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
40	chr15:38849600-38853000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr15:38849800-38851000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:38849800-38851000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
43	chr15:38849800-38852000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr15:38850000-38850400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr15:38850000-38850600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr15:38850000-38850600	Enhancers	Fetal Intestine Small	intestine
47	chr15:38850000-38850800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:38850000-38852000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr15:38850200-38850400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:38850200-38850400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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