Variant report

Variant	rs9357346
Chromosome Location	chr6:12333670-12333671
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	chr6:12330915..12334155-chr6:12334557..12337652,4	MCF-7	breast:
2	chr6:12286691..12293887-chr6:12327157..12336724,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078401	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10947948	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10947949	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11753558	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12055484	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17765653	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs17765682	0.84[ASN][1000 genomes]
rs35198442	0.84[ASN][1000 genomes]
rs4379286	0.88[CEU][hapmap];0.87[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4711654	0.84[CEU][hapmap]
rs4711655	0.84[EUR][1000 genomes]
rs4714383	0.86[EUR][1000 genomes]
rs4714418	0.81[EUR][1000 genomes]
rs6458187	0.87[EUR][1000 genomes]
rs6458193	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6921790	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs6932390	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9369262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9381015	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs9381033	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs9381035	1.00[CEU][hapmap];0.87[CHB][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9394741	0.94[EUR][1000 genomes]
rs9462681	0.80[EUR][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	nsv508394	chr6:12285464-12386745	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9357346	RN7SKP293	cis	Artery Tibial	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12327400-12334600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:12327800-12337000	Enhancers	HepG2	liver
3	chr6:12328000-12335200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:12328800-12334000	Enhancers	Stomach Mucosa	stomach
5	chr6:12328800-12334800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:12329400-12334600	Weak transcription	Hela-S3	cervix
7	chr6:12329400-12335400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:12329400-12336000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:12329400-12336000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:12331000-12337200	Enhancers	Fetal Intestine Large	intestine
11	chr6:12331000-12337200	Enhancers	Fetal Intestine Small	intestine
12	chr6:12332000-12333800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:12332000-12340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:12332200-12335000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr6:12332200-12344000	Weak transcription	Aorta	Aorta
16	chr6:12332400-12335000	Weak transcription	NHEK	skin
17	chr6:12332400-12336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:12332600-12334800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:12332600-12336400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:12332600-12340400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:12332800-12334200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:12332800-12334400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:12332800-12334800	Weak transcription	Pancreas	Pancrea
24	chr6:12332800-12335000	Weak transcription	Liver	Liver
25	chr6:12332800-12335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:12332800-12335400	Weak transcription	Left Ventricle	heart
27	chr6:12332800-12335800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:12332800-12336400	Weak transcription	Right Atrium	heart
29	chr6:12332800-12336600	Weak transcription	Lung	lung
30	chr6:12332800-12336600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:12333000-12334800	Enhancers	A549	lung
32	chr6:12333000-12335800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:12333000-12336200	Weak transcription	Placenta	Placenta
34	chr6:12333200-12335400	Enhancers	GM12878-XiMat	blood
35	chr6:12333200-12336000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:12333400-12334400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:12333400-12336600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:12333600-12335000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr6:12333600-12336400	Weak transcription	Duodenum Mucosa	Duodenum

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