Variant report

Variant	rs6430076
Chromosome Location	chr2:145797185-145797186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145785797..145788281-chr2:145794965..145797267,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1006923	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206585	0.80[ASN][1000 genomes]
rs10928241	0.90[ASN][1000 genomes]
rs1125128	0.90[ASN][1000 genomes]
rs12474485	0.90[ASN][1000 genomes]
rs12476923	0.90[ASN][1000 genomes]
rs12477111	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12691704	0.90[ASN][1000 genomes]
rs12992411	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995180	0.90[ASN][1000 genomes]
rs13015800	0.90[ASN][1000 genomes]
rs13384504	0.90[ASN][1000 genomes]
rs13389190	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428423	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830318	0.90[ASN][1000 genomes]
rs1830320	0.90[ASN][1000 genomes]
rs1881409	0.90[ASN][1000 genomes]
rs1881410	0.90[ASN][1000 genomes]
rs2663966	0.85[ASN][1000 genomes]
rs34029033	0.90[ASN][1000 genomes]
rs34372836	0.85[ASN][1000 genomes]
rs35462154	0.90[ASN][1000 genomes]
rs35805189	0.95[ASN][1000 genomes]
rs6430078	0.85[ASN][1000 genomes]
rs6721988	0.90[ASN][1000 genomes]
rs6747171	0.90[ASN][1000 genomes]
rs6747275	0.90[ASN][1000 genomes]
rs6749506	0.90[ASN][1000 genomes]
rs7423637	0.90[ASN][1000 genomes]
rs7562803	0.90[ASN][1000 genomes]
rs786242	0.80[EUR][1000 genomes]
rs786244	0.90[EUR][1000 genomes]
rs787427	0.80[ASN][1000 genomes]
rs957292	0.90[ASN][1000 genomes]
rs957293	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145789200-145802400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145795000-145799000	Weak transcription	Aorta	Aorta
3	chr2:145795400-145797600	Enhancers	NHDF-Ad	bronchial
4	chr2:145796000-145798800	Weak transcription	Esophagus	oesophagus
5	chr2:145796000-145799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:145796000-145808600	Weak transcription	Ovary	ovary
7	chr2:145796200-145797200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:145796200-145797200	Weak transcription	Brain Anterior Caudate	brain
9	chr2:145796200-145799400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:145796200-145799600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:145796200-145800600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:145796200-145801000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:145796200-145801000	Weak transcription	Left Ventricle	heart
14	chr2:145796200-145802400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:145796400-145797200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:145796400-145798800	Weak transcription	Osteobl	bone
17	chr2:145796400-145799400	Weak transcription	A549	lung
18	chr2:145796400-145799600	Weak transcription	Brain Substantia Nigra	brain
19	chr2:145797000-145797400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:145797000-145797400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:145797000-145797800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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