Variant report

Variant	rs12940653
Chromosome Location	chr17:46043033-46043034
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46041301..46044030-chr17:46048146..46051314,3	MCF-7	breast:
2	chr17:46042235..46044126-chr17:46090847..46093838,2	K562	blood:
3	chr17:46039634..46045111-chr17:46046533..46049867,10	K562	blood:
4	chr17:46040813..46045111-chr17:46046677..46049654,4	K562	blood:
5	chr17:46030056..46036320-chr17:46039939..46045055,5	K562	blood:

Variant related genes	Relation type
ENSG00000108465	Chromatin interaction
ENSG00000167183	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11554926	1.00[AMR][1000 genomes]
rs34206139	1.00[AMR][1000 genomes]
rs34310441	1.00[AMR][1000 genomes]
rs34310493	1.00[AMR][1000 genomes]
rs34764028	1.00[AMR][1000 genomes]
rs35261895	1.00[AMR][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46019800-46047600	Weak transcription	Aorta	Aorta
2	chr17:46027200-46047200	Weak transcription	Spleen	Spleen
3	chr17:46027600-46047400	Weak transcription	Right Ventricle	heart
4	chr17:46027600-46047600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr17:46028000-46047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr17:46028000-46047600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:46030200-46045800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr17:46035000-46047400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:46036000-46047200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:46036200-46043400	Weak transcription	A549	lung
11	chr17:46036600-46047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:46036800-46047400	Weak transcription	Thymus	Thymus
13	chr17:46037800-46047400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:46037800-46047400	Enhancers	Fetal Intestine Small	intestine
15	chr17:46037800-46047800	Enhancers	Fetal Intestine Large	intestine
16	chr17:46038000-46043800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr17:46038000-46046400	Weak transcription	K562	blood
18	chr17:46038600-46043400	Enhancers	Colonic Mucosa	Colon
19	chr17:46039600-46047600	Weak transcription	Primary T cells from cord blood	blood
20	chr17:46041200-46043200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr17:46042400-46043200	Enhancers	Placenta	Placenta
22	chr17:46042400-46043400	Enhancers	Duodenum Mucosa	Duodenum
23	chr17:46042400-46043400	Enhancers	HepG2	liver
24	chr17:46042800-46043200	Enhancers	Gastric	stomach
25	chr17:46042800-46044200	Enhancers	Liver	Liver
26	chr17:46042800-46044200	Enhancers	Colon Smooth Muscle	Colon
27	chr17:46042800-46045000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr17:46042800-46045800	Enhancers	Ovary	ovary
29	chr17:46042800-46047800	Weak transcription	Small Intestine	intestine
30	chr17:46043000-46043200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr17:46043000-46043200	Enhancers	Esophagus	oesophagus
32	chr17:46043000-46045800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:46043000-46045800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:46043000-46046400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:46043000-46047800	Enhancers	Pancreas	Pancrea
36	chr17:46043000-46047800	Enhancers	Stomach Mucosa	stomach

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