Variant report

Variant	rs36115201
Chromosome Location	chr12:1768880-1768881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1768367..1774746-chr12:1797764..1801789,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10848543	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10848546	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11615883	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6489319	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7301222	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][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:63 , 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	chr12:1755400-1769000	Weak transcription	Esophagus	oesophagus
5	chr12:1758000-1770800	Weak transcription	HSMMtube	muscle
6	chr12:1758400-1770600	Weak transcription	NH-A	brain
7	chr12:1758600-1769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:1759800-1770600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:1760000-1770200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:1760200-1770600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:1760600-1769400	Weak transcription	Fetal Brain Female	brain
12	chr12:1760600-1769800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:1760800-1770800	Weak transcription	HSMM	muscle
14	chr12:1761000-1769200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:1761000-1769800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:1761200-1769800	Weak transcription	Fetal Lung	lung
17	chr12:1761400-1769200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:1761400-1770800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:1761600-1770800	Weak transcription	NHLF	lung
20	chr12:1761800-1769400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr12:1762000-1769000	Weak transcription	Ovary	ovary
22	chr12:1762000-1769000	Weak transcription	K562	blood
23	chr12:1762600-1769400	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:1762600-1769600	Weak transcription	Fetal Brain Male	brain
25	chr12:1763200-1769000	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:1764200-1769400	Enhancers	Brain Substantia Nigra	brain
27	chr12:1764400-1770600	Weak transcription	Osteobl	bone
28	chr12:1764800-1769000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:1764800-1770800	Weak transcription	NHDF-Ad	bronchial
30	chr12:1765000-1769200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:1765000-1769200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:1765000-1769200	Weak transcription	NHEK	skin
33	chr12:1765000-1770200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:1765400-1769000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:1765400-1769200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:1765800-1769000	Enhancers	Brain Angular Gyrus	brain
37	chr12:1765800-1769000	Enhancers	Brain Cingulate Gyrus	brain
38	chr12:1766000-1769000	Enhancers	Brain Anterior Caudate	brain
39	chr12:1766000-1769400	Enhancers	Brain Hippocampus Middle	brain
40	chr12:1766000-1769800	Enhancers	Left Ventricle	heart
41	chr12:1766400-1769000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:1766600-1769400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:1766800-1769200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:1767000-1769000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:1767200-1769000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:1767200-1769400	Weak transcription	A549	lung
47	chr12:1767400-1769400	Enhancers	Adipose Nuclei	Adipose
48	chr12:1767800-1770600	Enhancers	Fetal Intestine Large	intestine
49	chr12:1768000-1769000	Weak transcription	Fetal Stomach	stomach
50	chr12:1768200-1769000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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