Variant report

Variant	rs10478735
Chromosome Location	chr6:12298406-12298407
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: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4714473	1.00[EUR][1000 genomes]
rs56771990	1.00[EUR][1000 genomes]
rs57291999	1.00[EUR][1000 genomes]
rs60330346	1.00[EUR][1000 genomes]
rs6917941	1.00[EUR][1000 genomes]
rs6921807	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6941575	1.00[EUR][1000 genomes]
rs73367570	1.00[EUR][1000 genomes]
rs7738298	1.00[EUR][1000 genomes]
rs7758081	1.00[EUR][1000 genomes]
rs7758251	1.00[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:28 , 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	chr6:12296200-12299200	Enhancers	HepG2	liver
5	chr6:12296600-12299400	Weak transcription	Pancreas	Pancrea
6	chr6:12296600-12314400	Weak transcription	Spleen	Spleen
7	chr6:12297000-12298600	Strong transcription	NH-A	brain
8	chr6:12297000-12299600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:12297000-12300000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:12297000-12301000	Weak transcription	HSMMtube	muscle
11	chr6:12297200-12298600	Strong transcription	HSMM	muscle
12	chr6:12297200-12299000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:12297200-12299600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:12297200-12311200	Weak transcription	HUVEC	blood vessel
15	chr6:12297400-12299000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:12297600-12299800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:12297800-12298600	Strong transcription	NHEK	skin
18	chr6:12298200-12299800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:12298200-12301000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:12298200-12301200	Weak transcription	Fetal Intestine Large	intestine
21	chr6:12298200-12302600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:12298200-12303200	Weak transcription	Fetal Intestine Small	intestine
23	chr6:12298200-12305600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr6:12298400-12299200	Weak transcription	Aorta	Aorta
25	chr6:12298400-12300400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:12298400-12300600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:12298400-12300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:12298400-12301200	Genic enhancers	A549	lung

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