Variant report

Variant	rs12410234
Chromosome Location	chr1:86033650-86033651
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86032700..86035743-chr1:86041382..86044963,3	MCF-7	breast:
2	chr1:86032809..86034336-chr1:86038823..86041254,2	MCF-7	breast:
3	chr1:85931146..85932726-chr1:86032446..86035420,2	MCF-7	breast:
4	chr1:86031426..86034385-chr1:86034909..86037584,2	K562	blood:
5	chr1:86028699..86031466-chr1:86032430..86034702,2	K562	blood:
6	chr1:86029966..86032926-chr1:86033202..86036409,3	K562	blood:

Variant related genes	Relation type
ENSG00000272691	Chromatin interaction
ENSG00000153904	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10747324	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10873711	0.82[CHB][hapmap]
rs12405017	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12405846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12758966	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1481200	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1764287	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1764295	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1775985	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1775986	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1775987	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1775992	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1775993	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2014733	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2026772	0.82[CHB][hapmap]
rs2389973	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2389974	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2785082	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2970548	0.82[CHB][hapmap]
rs399547	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs425357	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs429040	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4379699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs444875	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6686719	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7521240	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs821377	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs821378	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs821380	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs821387	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs821388	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs821390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs821400	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs821403	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs821404	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs849158	0.82[CHB][hapmap]
rs9324152	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9661608	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9661951	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9701898	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9793556	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86011600-86035200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:86019800-86034000	Weak transcription	Aorta	Aorta
3	chr1:86021800-86034600	Weak transcription	Fetal Stomach	stomach
4	chr1:86022200-86034000	Weak transcription	NHLF	lung
5	chr1:86022200-86034200	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:86022200-86034400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:86025800-86034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:86028400-86034000	Weak transcription	HSMMtube	muscle
9	chr1:86028400-86034200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:86029200-86034400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:86029800-86034400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:86032800-86034400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:86032800-86034400	Enhancers	NH-A	brain
14	chr1:86032800-86034800	Genic enhancers	HSMM	muscle
15	chr1:86032800-86042000	Weak transcription	Left Ventricle	heart
16	chr1:86033000-86033800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:86033000-86034400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:86033000-86034400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:86033000-86034600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:86033200-86033800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:86033200-86034000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:86033200-86034600	Enhancers	HUVEC	blood vessel
23	chr1:86033200-86034800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:86033200-86035000	Genic enhancers	Osteobl	bone
25	chr1:86033200-86038200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:86033400-86034200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:86033400-86034200	Enhancers	NHDF-Ad	bronchial
28	chr1:86033400-86037400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:86033600-86034000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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