Variant report

Variant	rs7164418
Chromosome Location	chr15:38912822-38912823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:38884634..38886292-chr15:38912345..38913901,2	MCF-7	breast:
2	chr15:38909645..38913032-chr15:38921609..38923824,3	MCF-7	breast:
3	chr15:38854345..38857122-chr15:38912518..38914201,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172575	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16967120	0.81[EUR][1000 genomes]
rs17653133	0.81[EUR][1000 genomes]
rs4614699	0.83[EUR][1000 genomes]
rs55762999	0.85[EUR][1000 genomes]
rs55791667	0.81[EUR][1000 genomes]
rs56279249	0.82[EUR][1000 genomes]
rs59659806	0.92[EUR][1000 genomes]
rs60455438	0.85[EUR][1000 genomes]
rs7173588	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72729320	0.81[EUR][1000 genomes]
rs72729321	0.81[EUR][1000 genomes]
rs883625	0.90[AMR][1000 genomes];0.94[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
rs7164418	RASGRP1	cis	Skin Sun Exposed Lower leg	GTEx
rs7164418	RASGRP1	cis	Esophagus Mucosa	GTEx
rs7164418	RASGRP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:38901200-38913400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:38910000-38913000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:38910000-38913600	Enhancers	Fetal Heart	heart
4	chr15:38910800-38918000	Weak transcription	Left Ventricle	heart
5	chr15:38911600-38913800	Enhancers	Thymus	Thymus
6	chr15:38911800-38913400	Enhancers	Primary B cells from cord blood	blood
7	chr15:38911800-38913800	Enhancers	Primary B cells from peripheral blood	blood
8	chr15:38912200-38913400	Enhancers	Right Ventricle	heart
9	chr15:38912200-38913600	Enhancers	Stomach Mucosa	stomach
10	chr15:38912200-38913800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr15:38912200-38913800	Enhancers	Fetal Kidney	kidney
12	chr15:38912200-38914000	Enhancers	Fetal Brain Female	brain
13	chr15:38912200-38916000	Enhancers	Fetal Thymus	thymus
14	chr15:38912400-38913400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr15:38912400-38913600	Enhancers	Primary T cells from cord blood	blood
16	chr15:38912400-38913600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr15:38912400-38916000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr15:38912600-38913000	Enhancers	Pancreas	Pancrea
19	chr15:38912600-38913200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:38912600-38913400	Enhancers	Primary hematopoietic stem cells	blood
21	chr15:38912600-38913400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr15:38912600-38913600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr15:38912600-38913600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr15:38912600-38913600	Enhancers	Fetal Stomach	stomach
25	chr15:38912600-38913800	Enhancers	Duodenum Mucosa	Duodenum
26	chr15:38912800-38913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:38912800-38913400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr15:38912800-38913600	Enhancers	Dnd41	blood
29	chr15:38912800-38913800	Enhancers	Fetal Brain Male	brain
30	chr15:38912800-38913800	Enhancers	Fetal Intestine Small	intestine
31	chr15:38912800-38917200	Enhancers	Fetal Intestine Large	intestine

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