Variant report

Variant	rs9496485
Chromosome Location	chr6:143271103-143271104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:143270146-143271920	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:143270319-143271406	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:143263834-143271739	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143270339..143273332-chr6:143275791..143277849,2	K562	blood:

Variant related genes	Relation type
HIVEP2	TF binding region
ENSG00000232618	TF binding region
ENSG00000224460	Chromatin interaction

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

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

rs_ID	r²[population]
rs59123279	1.00[AMR][1000 genomes]
rs73588423	0.83[AMR][1000 genomes]
rs73588427	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7766704	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7768273	0.83[AMR][1000 genomes]
rs9484678	1.00[AMR][1000 genomes]
rs9496484	1.00[YRI][hapmap];1.00[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	nsv538459	chr6:143165802-143360098	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143269200-143271200	Weak transcription	NHEK	skin
2	chr6:143269200-143271400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:143269200-143271400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:143269200-143274000	Weak transcription	Fetal Intestine Large	intestine
5	chr6:143269400-143271200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:143269400-143271200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr6:143269400-143271200	Weak transcription	Hela-S3	cervix
8	chr6:143269400-143271400	Weak transcription	HMEC	breast
9	chr6:143269400-143271600	Weak transcription	Fetal Heart	heart
10	chr6:143269400-143273600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:143269400-143274200	Weak transcription	Fetal Intestine Small	intestine
12	chr6:143269400-143281000	Weak transcription	NHDF-Ad	bronchial
13	chr6:143269600-143274000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:143269800-143273200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:143269800-143273600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:143269800-143274600	Weak transcription	Liver	Liver
17	chr6:143270200-143272800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:143270200-143273200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:143270400-143273200	Weak transcription	GM12878-XiMat	blood
20	chr6:143270600-143273200	Weak transcription	Primary B cells from cord blood	blood
21	chr6:143271000-143273800	Weak transcription	Monocytes-CD14+_RO01746	blood

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