Variant report

Variant	rs1014608
Chromosome Location	chr6:13228767-13228768
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13227632..13230364-chr6:13328169..13330361,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145979	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10948546	0.85[CEU][hapmap]
rs12192056	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12205644	0.85[CEU][hapmap]
rs12212533	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13211846	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1937767	0.81[CHB][hapmap]
rs2840336	0.85[CEU][hapmap]
rs35275607	0.85[AMR][1000 genomes]
rs4711958	0.90[CHB][hapmap];0.97[GIH][hapmap];0.84[MEX][hapmap];0.83[MKK][hapmap];0.83[AMR][1000 genomes]
rs4715156	0.82[JPT][hapmap]
rs4715167	0.85[CEU][hapmap]
rs4715202	0.90[CHB][hapmap];0.85[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432849	chr6:13225077-13253733	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1014608	ERVFRDE1	cis	cerebellum	SCAN
rs1014608	CD83	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13182000-13230000	Weak transcription	Brain Angular Gyrus	brain
2	chr6:13203200-13230200	Weak transcription	Fetal Stomach	stomach
3	chr6:13206400-13229800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:13206400-13230000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:13208200-13239800	Weak transcription	Brain Substantia Nigra	brain
6	chr6:13208400-13230200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:13212400-13229800	Weak transcription	Right Ventricle	heart
8	chr6:13213400-13230000	Weak transcription	Fetal Brain Female	brain
9	chr6:13217800-13230000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:13217800-13230000	Weak transcription	Spleen	Spleen
11	chr6:13217800-13242400	Weak transcription	Pancreas	Pancrea
12	chr6:13218200-13230200	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:13218200-13235000	Weak transcription	Adipose Nuclei	Adipose
14	chr6:13218400-13241000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:13218600-13230000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:13218600-13234400	Weak transcription	HSMM	muscle
17	chr6:13218800-13229800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:13218800-13230200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:13219000-13230000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:13219800-13229600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:13221400-13230000	Weak transcription	Brain Anterior Caudate	brain
22	chr6:13223200-13232200	Weak transcription	Lung	lung
23	chr6:13224600-13231800	Weak transcription	Fetal Heart	heart
24	chr6:13227400-13232400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:13227800-13233200	Strong transcription	Left Ventricle	heart
26	chr6:13227800-13235600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:13227800-13238600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr6:13227800-13240000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:13227800-13244000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:13228000-13236000	Weak transcription	Fetal Brain Male	brain
31	chr6:13228200-13228800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:13228200-13229800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr6:13228200-13230200	Enhancers	Primary T cells from cord blood	blood
34	chr6:13228200-13230200	Enhancers	Fetal Intestine Large	intestine
35	chr6:13228200-13230200	Enhancers	Fetal Intestine Small	intestine
36	chr6:13228400-13229000	Weak transcription	Aorta	Aorta
37	chr6:13228400-13232800	Strong transcription	Brain Germinal Matrix	brain
38	chr6:13228400-13237200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:13228600-13229400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr6:13228600-13231000	Enhancers	Primary B cells from cord blood	blood

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