Variant report

Variant	rs6433943
Chromosome Location	chr2:182815579-182815580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182812716..182816022-chr2:182817330..182820281,3	MCF-7	breast:
2	chr2:182791877..182794695-chr2:182814477..182817975,3	MCF-7	breast:
3	chr2:182814166..182817095-chr2:182942432..182944854,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150722	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10165936	1.00[CEU][hapmap]
rs10173114	1.00[CEU][hapmap]
rs10176061	1.00[CEU][hapmap]
rs10176613	1.00[CEU][hapmap]
rs10176757	1.00[CEU][hapmap]
rs10179363	1.00[CEU][hapmap]
rs10179547	1.00[CEU][hapmap]
rs10199645	1.00[CEU][hapmap]
rs10200243	1.00[CEU][hapmap]
rs10201303	1.00[CEU][hapmap]
rs10210215	1.00[CEU][hapmap]
rs10221891	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.93[MEX][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1116015	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12615866	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13404156	1.00[CEU][hapmap]
rs13425734	1.00[CEU][hapmap]
rs1528024	1.00[CEU][hapmap]
rs1528025	1.00[CEU][hapmap]
rs1528027	1.00[CEU][hapmap]
rs16867498	1.00[CEU][hapmap]
rs16867509	1.00[CEU][hapmap]
rs1881158	1.00[CEU][hapmap]
rs1881159	1.00[CEU][hapmap]
rs2059702	1.00[CEU][hapmap]
rs2288330	1.00[CEU][hapmap]
rs2303554	1.00[CEU][hapmap]
rs2368224	1.00[CEU][hapmap]
rs3731693	1.00[CEU][hapmap]
rs3815877	1.00[CEU][hapmap]
rs3815878	1.00[CEU][hapmap]
rs61413642	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6707164	1.00[CEU][hapmap]
rs6720109	1.00[CEU][hapmap]
rs6720702	1.00[CEU][hapmap]
rs6735322	1.00[CEU][hapmap]
rs6736766	1.00[CEU][hapmap]
rs6748354	1.00[CEU][hapmap]
rs6751685	1.00[CEU][hapmap]
rs6754192	1.00[CEU][hapmap]
rs6755017	1.00[CEU][hapmap]
rs7557969	1.00[CEU][hapmap]
rs7562680	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7563333	0.84[AFR][1000 genomes]
rs7580410	1.00[CEU][hapmap]
rs7599951	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7603721	1.00[CEU][hapmap]
rs7608942	1.00[CEU][hapmap]
rs9807949	1.00[CEU][hapmap]
rs9808112	1.00[CEU][hapmap]

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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6433943	LOC647288///LOC730587	trans	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182800000-182818000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:182808000-182818800	Weak transcription	Pancreas	Pancrea
3	chr2:182809200-182816800	Weak transcription	Fetal Intestine Large	intestine
4	chr2:182809200-182817400	Weak transcription	Fetal Thymus	thymus
5	chr2:182810000-182818800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:182810200-182817800	Weak transcription	Placenta	Placenta
7	chr2:182812000-182818600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:182812600-182818200	Weak transcription	Primary T cells from cord blood	blood
9	chr2:182813000-182815600	Weak transcription	Hela-S3	cervix
10	chr2:182813000-182818800	Weak transcription	Aorta	Aorta
11	chr2:182813800-182817000	Weak transcription	HepG2	liver
12	chr2:182813800-182818000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:182814200-182815600	Weak transcription	HSMMtube	muscle
14	chr2:182814200-182816200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:182814200-182817200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:182814200-182817800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:182814200-182818400	Weak transcription	NH-A	brain
18	chr2:182814200-182818800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:182814400-182818200	Weak transcription	Osteobl	bone
20	chr2:182814400-182818400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:182814400-182818800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:182814400-182819200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:182814600-182817200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:182814600-182817600	Weak transcription	NHLF	lung
25	chr2:182814600-182818000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:182814600-182818200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:182814600-182818600	Weak transcription	HMEC	breast
28	chr2:182814600-182818600	Weak transcription	NHEK	skin
29	chr2:182814600-182818800	Weak transcription	NHDF-Ad	bronchial
30	chr2:182815000-182817400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:182815200-182818000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:182815200-182818000	Weak transcription	Placenta Amnion	Placenta Amnion

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