Variant report

Variant	rs9458860
Chromosome Location	chr6:163997657-163997658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163834016..163836871-chr6:163995838..163998585,2	K562	blood:

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1234977	1.00[CHB][hapmap]
rs1737331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737608	1.00[ASN][1000 genomes]
rs1744929	1.00[CHB][hapmap]
rs1764022	1.00[CHB][hapmap]
rs2757573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2757575	1.00[CHB][hapmap]
rs2757576	1.00[CHB][hapmap]
rs2757585	1.00[CHB][hapmap]
rs2759386	1.00[CHB][hapmap]
rs2759396	1.00[CHB][hapmap]
rs6902395	1.00[CHB][hapmap]
rs7744302	1.00[CHB][hapmap]
rs7754222	1.00[CHB][hapmap]
rs7764847	1.00[CHB][hapmap]
rs783137	1.00[CHB][hapmap]
rs783139	1.00[CHB][hapmap]
rs803612	1.00[CHB][hapmap]
rs9347765	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs9365575	1.00[CHB][hapmap]
rs9458843	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163970800-164000200	Weak transcription	Right Atrium	heart
2	chr6:163978000-163998000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr6:163982800-163998000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:163983000-163998400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:163984800-164000000	Weak transcription	Right Ventricle	heart
6	chr6:163985000-164006800	Weak transcription	Spleen	Spleen
7	chr6:163986600-164007000	Weak transcription	Aorta	Aorta
8	chr6:163987600-164007000	Weak transcription	Hela-S3	cervix
9	chr6:163987800-164000200	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:163989600-163997800	Enhancers	Brain Hippocampus Middle	brain
11	chr6:163991200-164001800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:163991600-163998200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:163992000-164000000	Strong transcription	HSMM	muscle
14	chr6:163992000-164000600	Weak transcription	Fetal Kidney	kidney
15	chr6:163992200-164000000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:163992200-164000000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:163992200-164000200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:163992200-164000400	Weak transcription	Pancreas	Pancrea
19	chr6:163992200-164000600	Weak transcription	Fetal Stomach	stomach
20	chr6:163992200-164002000	Weak transcription	Ovary	ovary
21	chr6:163992200-164007200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:163992200-164007200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:163992200-164009000	Weak transcription	GM12878-XiMat	blood
24	chr6:163992400-163997800	Enhancers	Brain Substantia Nigra	brain
25	chr6:163992400-163998200	Weak transcription	Brain Germinal Matrix	brain
26	chr6:163992400-163999000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:163992400-163999200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:163992400-163999600	Weak transcription	HSMMtube	muscle
29	chr6:163992400-164000200	Weak transcription	Esophagus	oesophagus
30	chr6:163992400-164001800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:163992400-164005800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:163992400-164007000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:163992400-164007800	Weak transcription	Lung	lung
34	chr6:163992600-163997800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr6:163993200-164000000	Weak transcription	NHEK	skin
36	chr6:163993200-164000200	Weak transcription	Primary B cells from cord blood	blood
37	chr6:163993200-164001200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:163993400-163999800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:163993600-164000200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:163993800-163998400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr6:163994000-164004800	Weak transcription	HepG2	liver
42	chr6:163994000-164007200	Weak transcription	NHLF	lung
43	chr6:163994200-163999000	Genic enhancers	K562	blood
44	chr6:163994200-164006400	Weak transcription	A549	lung
45	chr6:163994200-164006400	Weak transcription	HUVEC	blood vessel
46	chr6:163994400-164006600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr6:163994800-163998200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
48	chr6:163995000-163998800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:163995200-164000000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:163995200-164007200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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