Variant report

Variant	rs933361
Chromosome Location	chr12:1763120-1763121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1760516..1766942-chr12:1799167..1803711,7	MCF-7	breast:
2	chr12:1762971..1767394-chr12:1768101..1772798,5	MCF-7	breast:
3	chr12:1761202..1763486-chr14:90976670..90979042,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXL14-2	chr12:1762424-1764268	XLOC_009974

Variant related genes	Relation type
ENSG00000266043	Chromatin interaction
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]
rs12422747	0.83[EUR][1000 genomes]
rs1859865	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2369973	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4318028	0.86[ASN][1000 genomes]
rs4766403	0.84[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1750000-1766800	Weak transcription	Pancreas	Pancrea
2	chr12:1752000-1769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:1753400-1765400	Weak transcription	Lung	lung
4	chr12:1754200-1764400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:1754200-1764400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:1754200-1770600	Weak transcription	Colonic Mucosa	Colon
7	chr12:1754400-1763800	Weak transcription	NHEK	skin
8	chr12:1754400-1764400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:1754400-1769000	Weak transcription	HMEC	breast
10	chr12:1754600-1768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:1755400-1769000	Weak transcription	Esophagus	oesophagus
12	chr12:1756400-1764400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:1756400-1768200	Weak transcription	Fetal Intestine Small	intestine
14	chr12:1757200-1764400	Weak transcription	Fetal Intestine Large	intestine
15	chr12:1758000-1770800	Weak transcription	HSMMtube	muscle
16	chr12:1758400-1766200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:1758400-1770600	Weak transcription	NH-A	brain
18	chr12:1758600-1769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:1758800-1763800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:1759000-1763200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:1759800-1770600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:1760000-1764400	Strong transcription	Osteobl	bone
23	chr12:1760000-1770200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:1760200-1763200	Strong transcription	NHDF-Ad	bronchial
25	chr12:1760200-1770600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:1760400-1766000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:1760600-1767400	Weak transcription	Adipose Nuclei	Adipose
28	chr12:1760600-1767400	Weak transcription	Right Atrium	heart
29	chr12:1760600-1769400	Weak transcription	Fetal Brain Female	brain
30	chr12:1760600-1769800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:1760800-1764400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:1760800-1770800	Weak transcription	HSMM	muscle
33	chr12:1761000-1766000	Weak transcription	Left Ventricle	heart
34	chr12:1761000-1769200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:1761000-1769800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:1761200-1769800	Weak transcription	Fetal Lung	lung
37	chr12:1761400-1764000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:1761400-1764200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:1761400-1767200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:1761400-1769200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:1761400-1770800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:1761600-1763400	Enhancers	Brain Cingulate Gyrus	brain
43	chr12:1761600-1763600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:1761600-1766800	Weak transcription	Fetal Stomach	stomach
45	chr12:1761600-1770800	Weak transcription	NHLF	lung
46	chr12:1761800-1763200	Enhancers	Brain Angular Gyrus	brain
47	chr12:1761800-1764600	Enhancers	HepG2	liver
48	chr12:1761800-1769400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:1762000-1763200	Enhancers	Brain Anterior Caudate	brain
50	chr12:1762000-1763200	Enhancers	Brain Substantia Nigra	brain

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