Variant report

Variant	rs830118
Chromosome Location	chr12:122412225-122412226
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	chr12:122406389..122408558-chr12:122412146..122414620,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1169076	0.81[ASN][1000 genomes]
rs1169079	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1169081	0.86[ASN][1000 genomes]
rs1177589	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1184893	0.87[ASN][1000 genomes]
rs2309275	0.85[ASN][1000 genomes]
rs529736	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs658957	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671293	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs745327	0.88[ASN][1000 genomes]
rs830115	0.86[ASN][1000 genomes]
rs830120	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs830121	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122375800-122415800	Weak transcription	Liver	Liver
2	chr12:122376000-122413000	Weak transcription	Aorta	Aorta
3	chr12:122394000-122429800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:122396600-122439200	Weak transcription	Brain Anterior Caudate	brain
5	chr12:122402000-122412400	Weak transcription	Ovary	ovary
6	chr12:122402000-122412800	Weak transcription	Spleen	Spleen
7	chr12:122403400-122417200	Weak transcription	NHDF-Ad	bronchial
8	chr12:122403800-122412400	Weak transcription	HSMM	muscle
9	chr12:122403800-122412600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:122404000-122412400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:122405200-122412400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:122406200-122416800	Weak transcription	K562	blood
13	chr12:122406600-122418200	Weak transcription	Osteobl	bone
14	chr12:122407000-122412800	Weak transcription	Right Atrium	heart
15	chr12:122408600-122414400	Weak transcription	NHLF	lung
16	chr12:122409200-122412400	Weak transcription	Pancreas	Pancrea
17	chr12:122409400-122412400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:122409400-122412400	Weak transcription	Left Ventricle	heart
19	chr12:122409800-122427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:122409800-122428400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:122409800-122428400	Weak transcription	NHEK	skin
22	chr12:122410000-122413600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:122410000-122428600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:122411200-122412400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:122411400-122412400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:122411400-122413000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:122411400-122416800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:122411400-122418000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:122411600-122412400	Weak transcription	Thymus	Thymus
30	chr12:122411600-122415200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:122411600-122418200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:122411600-122418400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:122412000-122412400	Enhancers	Fetal Heart	heart
34	chr12:122412000-122412400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr12:122412200-122412600	Enhancers	HSMMtube	muscle
36	chr12:122412200-122413000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:122412200-122413200	Enhancers	Right Ventricle	heart
38	chr12:122412200-122413200	Enhancers	Skeletal Muscle Male	skeletal muscle

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