Variant report

Variant	rs830116
Chromosome Location	chr12:122412832-122412833
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: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1154513	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169075	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1169077	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1169080	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169082	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1169085	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1169092	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1169093	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1182927	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1185260	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667580	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667583	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667584	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1678951	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1678967	0.88[ASN][1000 genomes]
rs1678969	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1720041	0.82[AMR][1000 genomes]
rs1720067	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1916333	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2247139	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2620353	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs493519	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486794	0.81[AMR][1000 genomes]
rs693277	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7957207	0.82[AMR][1000 genomes]
rs7961103	0.81[AMR][1000 genomes]
rs830122	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs830123	0.82[AMR][1000 genomes]
rs830126	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs853758	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895958	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[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:41 , 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	chr12:122403400-122417200	Weak transcription	NHDF-Ad	bronchial
6	chr12:122406200-122416800	Weak transcription	K562	blood
7	chr12:122406600-122418200	Weak transcription	Osteobl	bone
8	chr12:122408600-122414400	Weak transcription	NHLF	lung
9	chr12:122409800-122427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:122409800-122428400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:122409800-122428400	Weak transcription	NHEK	skin
12	chr12:122410000-122413600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:122410000-122428600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:122411400-122413000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:122411400-122416800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:122411400-122418000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:122411600-122415200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:122411600-122418200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:122411600-122418400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:122412200-122413000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:122412200-122413200	Enhancers	Right Ventricle	heart
22	chr12:122412200-122413200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:122412400-122413000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:122412400-122413000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:122412400-122413000	Enhancers	HSMM	muscle
26	chr12:122412400-122413200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:122412400-122413200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:122412400-122413200	Enhancers	Pancreas	Pancrea
29	chr12:122412400-122413200	Enhancers	Thymus	Thymus
30	chr12:122412400-122413400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:122412400-122414000	Enhancers	Left Ventricle	heart
32	chr12:122412600-122413000	Enhancers	Fetal Thymus	thymus
33	chr12:122412600-122413200	Enhancers	Psoas Muscle	Psoas
34	chr12:122412600-122414000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:122412600-122414000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:122412800-122413200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:122412800-122413200	Enhancers	HSMMtube	muscle
38	chr12:122412800-122413400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:122412800-122413400	Enhancers	Right Atrium	heart
40	chr12:122412800-122413800	Enhancers	Fetal Heart	heart
41	chr12:122412800-122430600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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