Variant report

Variant	rs11608644
Chromosome Location	chr12:1766893-1766894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1764971..1767607-chr12:1903787..1905417,2	MCF-7	breast:
2	chr12:1763598..1768100-chr12:1769091..1773201,7	K562	blood:
3	chr12:1760516..1766942-chr12:1799167..1803711,7	MCF-7	breast:
4	chr12:1762971..1767394-chr12:1768101..1772798,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266043	Chromatin interaction
ENSG00000151062	Chromatin interaction
ENSG00000006831	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10744546	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10848544	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11609557	0.95[EUR][1000 genomes]
rs4765837	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv468964	chr12:1749905-1769930	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv556995	chr12:1749905-1769930	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1752000-1769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:1754200-1770600	Weak transcription	Colonic Mucosa	Colon
3	chr12:1754400-1769000	Weak transcription	HMEC	breast
4	chr12:1754600-1768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:1755400-1769000	Weak transcription	Esophagus	oesophagus
6	chr12:1756400-1768200	Weak transcription	Fetal Intestine Small	intestine
7	chr12:1758000-1770800	Weak transcription	HSMMtube	muscle
8	chr12:1758400-1770600	Weak transcription	NH-A	brain
9	chr12:1758600-1769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:1759800-1770600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:1760000-1770200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:1760200-1770600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:1760600-1767400	Weak transcription	Adipose Nuclei	Adipose
14	chr12:1760600-1767400	Weak transcription	Right Atrium	heart
15	chr12:1760600-1769400	Weak transcription	Fetal Brain Female	brain
16	chr12:1760600-1769800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:1760800-1770800	Weak transcription	HSMM	muscle
18	chr12:1761000-1769200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:1761000-1769800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:1761200-1769800	Weak transcription	Fetal Lung	lung
21	chr12:1761400-1767200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:1761400-1769200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:1761400-1770800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:1761600-1770800	Weak transcription	NHLF	lung
25	chr12:1761800-1769400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr12:1762000-1769000	Weak transcription	Ovary	ovary
27	chr12:1762000-1769000	Weak transcription	K562	blood
28	chr12:1762600-1767000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:1762600-1769400	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:1762600-1769600	Weak transcription	Fetal Brain Male	brain
31	chr12:1763200-1769000	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:1764200-1769400	Enhancers	Brain Substantia Nigra	brain
33	chr12:1764400-1770600	Weak transcription	Osteobl	bone
34	chr12:1764600-1767600	Weak transcription	HepG2	liver
35	chr12:1764800-1767800	Weak transcription	Fetal Intestine Large	intestine
36	chr12:1764800-1769000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:1764800-1770800	Weak transcription	NHDF-Ad	bronchial
38	chr12:1765000-1769200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:1765000-1769200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:1765000-1769200	Weak transcription	NHEK	skin
41	chr12:1765000-1770200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:1765400-1769000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:1765400-1769200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:1765800-1769000	Enhancers	Brain Angular Gyrus	brain
45	chr12:1765800-1769000	Enhancers	Brain Cingulate Gyrus	brain
46	chr12:1766000-1767000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr12:1766000-1769000	Enhancers	Brain Anterior Caudate	brain
48	chr12:1766000-1769400	Enhancers	Brain Hippocampus Middle	brain
49	chr12:1766000-1769800	Enhancers	Left Ventricle	heart
50	chr12:1766200-1768000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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