Variant report

Variant	rs10875697
Chromosome Location	chr12:48304797-48304798
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48304609..48306148-chr12:48313010..48314925,2	MCF-7	breast:
2	chr12:48303456..48306045-chr12:48319476..48321750,3	MCF-7	breast:
3	chr12:48291415..48293817-chr12:48302480..48304953,2	K562	blood:
4	chr12:48299753..48302171-chr12:48303242..48305976,2	K562	blood:
5	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10747525	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10783221	0.81[EUR][1000 genomes]
rs10875695	0.84[ASN][1000 genomes]
rs10875700	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875701	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875702	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875703	0.88[EUR][1000 genomes]
rs10875704	0.85[EUR][1000 genomes]
rs10875706	0.83[EUR][1000 genomes]
rs10875707	0.83[EUR][1000 genomes]
rs10875708	0.83[EUR][1000 genomes]
rs10875709	0.83[EUR][1000 genomes]
rs11168307	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11168308	0.87[EUR][1000 genomes]
rs11168311	0.86[EUR][1000 genomes]
rs11168314	0.84[EUR][1000 genomes]
rs11168315	0.82[EUR][1000 genomes]
rs11168316	0.84[EUR][1000 genomes]
rs11168318	0.84[EUR][1000 genomes]
rs11168319	0.81[EUR][1000 genomes]
rs11168320	0.83[EUR][1000 genomes]
rs11568820	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11829292	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12231071	0.82[AFR][1000 genomes]
rs12304114	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12316950	0.88[EUR][1000 genomes]
rs4254129	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4402365	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4411326	0.84[EUR][1000 genomes]
rs4442605	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4454781	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61920870	0.87[EUR][1000 genomes]
rs7136534	0.97[ASN][1000 genomes]
rs7300088	0.87[EUR][1000 genomes]
rs7300301	0.87[EUR][1000 genomes]
rs7302235	0.84[ASN][1000 genomes]
rs7303966	0.91[EUR][1000 genomes]
rs7305180	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7308216	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7970314	0.89[EUR][1000 genomes]
rs7975675	0.82[EUR][1000 genomes]
rs7976091	0.99[EUR][1000 genomes];0.81[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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48300000-48307200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr12:48301600-48304800	Enhancers	Fetal Intestine Small	intestine
3	chr12:48301800-48304800	Enhancers	Fetal Intestine Large	intestine
4	chr12:48302600-48306400	Enhancers	Placenta	Placenta
5	chr12:48302800-48305400	Weak transcription	Colonic Mucosa	Colon
6	chr12:48302800-48305400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:48303200-48304800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:48303200-48305000	Enhancers	NHDF-Ad	bronchial
9	chr12:48303400-48305000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:48303400-48305000	Enhancers	NHEK	skin
11	chr12:48303400-48305200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:48303400-48306000	Enhancers	Duodenum Mucosa	Duodenum
13	chr12:48303600-48304800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:48303600-48304800	Enhancers	HMEC	breast
15	chr12:48303600-48305400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:48303800-48304800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:48303800-48304800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:48304000-48304800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:48304000-48305200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:48304200-48304800	Enhancers	HSMMtube	muscle
21	chr12:48304200-48305400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:48304400-48304800	Enhancers	Fetal Heart	heart
23	chr12:48304600-48305000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:48304600-48305200	Enhancers	HepG2	liver
25	chr12:48304600-48305800	Weak transcription	Small Intestine	intestine

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