Variant report

Variant	rs9470469
Chromosome Location	chr6:37053844-37053845
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	chr6:37043566..37047908-chr6:37051801..37055072,4	MCF-7	breast:
2	chr6:37027478..37029052-chr6:37051959..37053874,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10223714	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12216069	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1224487	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1224488	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2094575	0.85[ASN][1000 genomes]
rs2149336	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4317401	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4711483	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4714035	0.85[EUR][1000 genomes]
rs6457974	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6457976	0.83[ASN][1000 genomes]
rs6457978	0.88[ASN][1000 genomes]
rs6457979	0.83[ASN][1000 genomes]
rs6457980	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6917684	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6924660	0.85[ASN][1000 genomes]
rs6939869	0.86[JPT][hapmap]
rs7748291	0.86[ASN][1000 genomes]
rs7750403	0.85[CEU][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7750614	0.85[ASN][1000 genomes]
rs7750717	0.85[ASN][1000 genomes]
rs7751821	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7770544	0.85[ASN][1000 genomes]
rs7774073	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs831487	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs831489	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs831491	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs831497	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs831500	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs831502	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs913499	0.85[CEU][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs913500	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs9296207	0.82[CHB][hapmap]
rs9296208	0.85[ASN][1000 genomes]
rs9366927	0.89[CEU][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs9380637	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs9380638	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9394401	0.86[ASN][1000 genomes]
rs9394402	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9394403	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9462258	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][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	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv969392	chr6:37052594-37060796	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9470469	RNF8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37045800-37060800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:37050800-37054000	Enhancers	Spleen	Spleen
3	chr6:37051400-37054600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:37051400-37060400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:37051600-37054000	Enhancers	HepG2	liver
6	chr6:37051600-37060600	Weak transcription	A549	lung
7	chr6:37051600-37063400	Weak transcription	Small Intestine	intestine
8	chr6:37051800-37054000	Enhancers	K562	blood
9	chr6:37051800-37054400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:37051800-37056400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:37051800-37056600	Weak transcription	Fetal Stomach	stomach
12	chr6:37051800-37056600	Weak transcription	NHDF-Ad	bronchial
13	chr6:37051800-37056800	Weak transcription	Stomach Mucosa	stomach
14	chr6:37051800-37059000	Weak transcription	Hela-S3	cervix
15	chr6:37051800-37060600	Weak transcription	Pancreas	Pancrea
16	chr6:37052200-37060600	Weak transcription	Adipose Nuclei	Adipose
17	chr6:37052200-37070000	Weak transcription	Right Atrium	heart
18	chr6:37052400-37056600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:37052600-37054600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:37052600-37056200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:37052800-37054400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr6:37052800-37056400	Weak transcription	Fetal Intestine Large	intestine
23	chr6:37052800-37069800	Weak transcription	Ovary	ovary
24	chr6:37053200-37060400	Weak transcription	Fetal Intestine Small	intestine
25	chr6:37053400-37054200	Enhancers	Placenta	Placenta
26	chr6:37053800-37054000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:37053800-37054000	Enhancers	Lung	lung

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