Variant report

Variant	rs9296345
Chromosome Location	chr6:12298333-12298334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:12259551..12262055-chr6:12297519..12299639,2	K562	blood:
2	chr6:12289734..12294573-chr6:12296754..12299785,4	K562	blood:
3	chr6:12298288..12300971-chr6:12301948..12304812,3	MCF-7	breast:
4	chr6:12297751..12299644-chr6:12328218..12330903,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078401	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16872592	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872602	0.88[EUR][1000 genomes]
rs16872628	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16872650	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16872653	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6899673	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906760	0.97[EUR][1000 genomes]
rs7356986	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9471435	0.97[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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12292800-12299200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:12293000-12300000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:12293200-12299800	Weak transcription	Left Ventricle	heart
4	chr6:12295000-12298400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:12296200-12299200	Enhancers	HepG2	liver
6	chr6:12296600-12298400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:12296600-12299400	Weak transcription	Pancreas	Pancrea
8	chr6:12296600-12314400	Weak transcription	Spleen	Spleen
9	chr6:12297000-12298400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:12297000-12298600	Strong transcription	NH-A	brain
11	chr6:12297000-12299600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:12297000-12300000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:12297000-12301000	Weak transcription	HSMMtube	muscle
14	chr6:12297200-12298600	Strong transcription	HSMM	muscle
15	chr6:12297200-12299000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:12297200-12299600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:12297200-12311200	Weak transcription	HUVEC	blood vessel
18	chr6:12297400-12299000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:12297600-12299800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:12297800-12298400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:12297800-12298400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:12297800-12298400	Enhancers	Aorta	Aorta
23	chr6:12297800-12298600	Strong transcription	NHEK	skin
24	chr6:12298000-12298400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:12298000-12298400	Transcr. at gene 5' and 3'	A549	lung
26	chr6:12298200-12298400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:12298200-12298400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:12298200-12299800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:12298200-12301000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:12298200-12301200	Weak transcription	Fetal Intestine Large	intestine
31	chr6:12298200-12302600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:12298200-12303200	Weak transcription	Fetal Intestine Small	intestine
33	chr6:12298200-12305600	Weak transcription	Placenta Amnion	Placenta Amnion

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