Variant report

Variant	rs9480004
Chromosome Location	chr6:150556580-150556581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150553894..150555591-chr6:150556253..150558267,2	K562	blood:
2	chr6:150548351..150551820-chr6:150552592..150556737,3	K562	blood:
3	chr6:150555928..150559365-chr6:150559823..150562005,4	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs9478602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9479981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9479992	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9479997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9480005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9480007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9480008	0.91[AFR][1000 genomes];1.00[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	nsv830843	chr6:150517411-150691173	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150550000-150556600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:150550000-150558600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:150551200-150558800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:150552400-150557600	Weak transcription	Right Atrium	heart
5	chr6:150552400-150558600	Weak transcription	Fetal Brain Female	brain
6	chr6:150552600-150557400	Weak transcription	Fetal Lung	lung
7	chr6:150552600-150559400	Weak transcription	Lung	lung
8	chr6:150553000-150557400	Weak transcription	Fetal Brain Male	brain
9	chr6:150554400-150557200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:150554400-150559000	Weak transcription	Osteobl	bone
11	chr6:150554400-150559200	Weak transcription	K562	blood
12	chr6:150555200-150557600	Weak transcription	Pancreas	Pancrea
13	chr6:150555200-150561400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:150555400-150557000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:150555400-150558600	Weak transcription	HMEC	breast
16	chr6:150555400-150559800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:150555600-150557200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:150555800-150558600	Weak transcription	NHEK	skin
19	chr6:150556200-150557600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr6:150556200-150557600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:150556200-150557600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr6:150556200-150557600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:150556400-150556600	Enhancers	Right Ventricle	heart
24	chr6:150556400-150558000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:150556400-150558600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:150556400-150559800	Enhancers	Left Ventricle	heart
27	chr6:150556400-150560000	Enhancers	Fetal Heart	heart

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