Variant report

Variant	rs7750360
Chromosome Location	chr6:12329195-12329196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:12313605..12316031-chr6:12327791..12330633,2	MCF-7	breast:
2	chr6:12327141..12329484-chr6:12596719..12598880,2	MCF-7	breast:
3	chr6:12322236..12325054-chr6:12326610..12329434,2	K562	blood:
4	chr6:12297751..12299644-chr6:12328218..12330903,2	MCF-7	breast:
5	chr6:12286691..12293887-chr6:12327157..12336724,21	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]
rs10478723	1.00[ASN][1000 genomes]
rs1800542	1.00[ASN][1000 genomes]
rs1800785	1.00[ASN][1000 genomes]
rs6458196	1.00[ASN][1000 genomes]
rs9296343	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: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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12324400-12329200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:12324800-12331000	Weak transcription	Pancreas	Pancrea
3	chr6:12325200-12331600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:12325200-12332200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:12325400-12329600	Enhancers	A549	lung
6	chr6:12325400-12331000	Weak transcription	Fetal Intestine Large	intestine
7	chr6:12325400-12332000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:12326200-12329400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:12326600-12329200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:12327000-12329600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:12327000-12330200	Enhancers	HMEC	breast
12	chr6:12327400-12330000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:12327400-12330000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:12327400-12334600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:12327600-12329400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:12327800-12329400	Enhancers	Hela-S3	cervix
17	chr6:12327800-12337000	Enhancers	HepG2	liver
18	chr6:12328000-12335200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:12328400-12329400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:12328600-12329400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:12328600-12329400	Enhancers	Fetal Thymus	thymus
22	chr6:12328600-12329400	Flanking Active TSS	NHEK	skin
23	chr6:12328600-12329600	Enhancers	Esophagus	oesophagus
24	chr6:12328800-12329200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:12328800-12329200	Enhancers	GM12878-XiMat	blood
26	chr6:12328800-12329400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:12328800-12329400	Enhancers	Fetal Intestine Small	intestine
28	chr6:12328800-12334000	Enhancers	Stomach Mucosa	stomach
29	chr6:12328800-12334800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:12329000-12329400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr6:12329000-12330000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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