Variant report

Variant	rs9296343
Chromosome Location	chr6:12293533-12293534
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:12292182..12294128-chr6:12314408..12315965,2	MCF-7	breast:
2	chr6:12291605..12293839-chr6:12604176..12606069,2	MCF-7	breast:
3	chr6:12292827..12295303-chr6:12330889..12332793,2	MCF-7	breast:
4	chr6:12292970..12295916-chr6:12385885..12388273,2	MCF-7	breast:
5	chr6:12292745..12295356-chr6:12368106..12370135,2	MCF-7	breast:
6	chr6:12292613..12295178-chr6:12296752..12298265,2	MCF-7	breast:
7	chr6:12292316..12293539-chr6:12603121..12604181,5	MCF-7	breast:
8	chr6:12289158..12291456-chr6:12291763..12294745,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000078401	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10478723	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800542	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800785	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458196	1.00[ASN][1000 genomes]
rs7750360	1.00[ASN][1000 genomes]
rs9462653	1.00[ASN][1000 genomes]
rs9462666	1.00[ASN][1000 genomes]
rs9471434	1.00[ASN][1000 genomes]
rs9471476	1.00[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	nsv830586	chr6:12130076-12295334	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12289400-12294200	Active TSS	Right Atrium	heart
2	chr6:12290000-12293800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:12290800-12297200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
4	chr6:12291400-12294400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:12291600-12293600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr6:12291600-12293600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:12291600-12296600	Transcr. at gene 5' and 3'	A549	lung
8	chr6:12291800-12293600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
9	chr6:12292000-12294800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:12292400-12293800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
11	chr6:12292600-12294600	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:12292600-12294800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:12292600-12295800	Weak transcription	Hela-S3	cervix
14	chr6:12292600-12296200	Weak transcription	NHLF	lung
15	chr6:12292800-12293800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:12292800-12293800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:12292800-12293800	Transcr. at gene 5' and 3'	NHEK	skin
18	chr6:12292800-12294200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:12292800-12294400	Enhancers	HMEC	breast
20	chr6:12292800-12296400	Weak transcription	Liver	Liver
21	chr6:12292800-12298000	Weak transcription	Gastric	stomach
22	chr6:12292800-12299200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:12293000-12293600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:12293000-12293600	Flanking Active TSS	NH-A	brain
25	chr6:12293000-12293800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
26	chr6:12293000-12295400	Weak transcription	Placenta	Placenta
27	chr6:12293000-12295400	Weak transcription	Osteobl	bone
28	chr6:12293000-12295600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:12293000-12295800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:12293000-12296200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:12293000-12296200	Weak transcription	Pancreas	Pancrea
32	chr6:12293000-12296400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:12293000-12298000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:12293000-12300000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:12293200-12293600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:12293200-12293600	Enhancers	NHDF-Ad	bronchial
37	chr6:12293200-12293800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr6:12293200-12293800	Transcr. at gene 5' and 3'	HSMM	muscle
39	chr6:12293200-12293800	Enhancers	HSMMtube	muscle
40	chr6:12293200-12294000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:12293200-12294400	Weak transcription	Stomach Mucosa	stomach
42	chr6:12293200-12295000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
43	chr6:12293200-12295000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:12293200-12295400	Weak transcription	Aorta	Aorta
45	chr6:12293200-12296200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr6:12293200-12296200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:12293200-12296200	Weak transcription	Spleen	Spleen
48	chr6:12293200-12296400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:12293200-12297600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:12293200-12298000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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