Variant report

Variant	rs4886795
Chromosome Location	chr15:76642218-76642219
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76641252..76643550-chr15:76644457..76646516,2	MCF-7	breast:
2	chr15:76628671..76632944-chr15:76633969..76642252,10	MCF-7	breast:
3	chr15:76641041..76642748-chr15:76666424..76668885,2	K562	blood:
4	chr15:76634433..76636784-chr15:76639688..76642552,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159556	Chromatin interaction
ENSG00000270036	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11072591	0.83[AMR][1000 genomes]
rs11629888	0.82[AMR][1000 genomes]
rs11632222	0.82[AMR][1000 genomes]
rs11634019	0.80[AMR][1000 genomes]
rs11638767	0.82[AMR][1000 genomes]
rs11856717	0.95[ASN][1000 genomes]
rs11857015	0.86[AMR][1000 genomes]
rs12906143	0.82[AMR][1000 genomes]
rs1607015	0.82[AMR][1000 genomes]
rs2280306	0.84[AMR][1000 genomes]
rs2461872	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3765115	0.81[AMR][1000 genomes]
rs4886493	0.81[AMR][1000 genomes]
rs4886798	0.84[AMR][1000 genomes]
rs4886805	0.81[AMR][1000 genomes]
rs62028380	0.81[AMR][1000 genomes]
rs908817	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904399	chr15:76622903-76646575	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv525769	chr15:76632487-76661925	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4886795	SCAPER	cis	Whole Blood	GTEx
rs4886795	SCAPER	cis	lung	GTEx
rs4886795	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs4886795	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs4886795	SCAPER	cis	Esophagus Muscularis	GTEx
rs4886795	SCAPER	cis	Thyroid	GTEx
rs4886795	SCAPER	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76639200-76646400	Weak transcription	Aorta	Aorta
2	chr15:76639800-76659800	Weak transcription	Gastric	stomach
3	chr15:76639800-76682600	Weak transcription	Pancreas	Pancrea
4	chr15:76639800-76695400	Weak transcription	Spleen	Spleen
5	chr15:76639800-76727400	Weak transcription	Right Ventricle	heart
6	chr15:76640200-76658800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:76640400-76646400	Weak transcription	Fetal Stomach	stomach
8	chr15:76640400-76646400	Weak transcription	K562	blood
9	chr15:76640400-76648800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr15:76640600-76646200	Weak transcription	Liver	Liver
11	chr15:76640800-76664400	Weak transcription	Brain Angular Gyrus	brain
12	chr15:76640800-76694600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr15:76641200-76645200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr15:76641200-76659000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr15:76641400-76694600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:76641600-76646400	Weak transcription	Fetal Intestine Large	intestine
17	chr15:76641600-76651400	Weak transcription	Brain Germinal Matrix	brain
18	chr15:76641600-76665400	Weak transcription	Placenta	Placenta
19	chr15:76641800-76642800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:76641800-76651200	Weak transcription	Fetal Intestine Small	intestine
21	chr15:76641800-76660400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:76641800-76673400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr15:76642000-76642600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:76642000-76642600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:76642000-76642600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:76642000-76660400	Weak transcription	Esophagus	oesophagus
27	chr15:76642200-76645400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:76642200-76646200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr15:76642200-76652800	Weak transcription	Left Ventricle	heart
30	chr15:76642200-76664400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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