Variant report

Variant	rs1483592
Chromosome Location	chr4:125861545-125861546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:125639869..125641790-chr4:125860741..125863223,2	MCF-7	breast:
2	chr4:125631771..125634938-chr4:125861010..125864557,5	MCF-7	breast:
3	chr4:125764608..125767385-chr4:125861503..125863790,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151458	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10022194	0.84[ASW][hapmap];0.84[GIH][hapmap];0.89[LWK][hapmap];0.89[MEX][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs10031287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1021628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722357	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732928	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384817	0.85[ASN][1000 genomes]
rs1483599	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483601	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532493	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1553093	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553094	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553095	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17184111	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17788496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28477204	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28607791	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6824446	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72920861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695258	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307556	0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv830050	chr4:125717858-125888563	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125856200-125866800	Enhancers	Hela-S3	cervix
2	chr4:125857600-125862600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:125858000-125865000	Weak transcription	Ovary	ovary
4	chr4:125858000-125868000	Weak transcription	Pancreas	Pancrea
5	chr4:125858200-125867800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:125859000-125861600	Weak transcription	Fetal Kidney	kidney
7	chr4:125859200-125862800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:125859200-125862800	Enhancers	NHDF-Ad	bronchial
9	chr4:125859200-125863200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:125859400-125861600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:125859400-125862400	Enhancers	HSMM	muscle
12	chr4:125859400-125862800	Enhancers	Osteobl	bone
13	chr4:125859400-125863000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:125859400-125870200	Weak transcription	Psoas Muscle	Psoas
15	chr4:125859600-125862600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:125860000-125863800	Enhancers	HUVEC	blood vessel
17	chr4:125860200-125862800	Enhancers	NHLF	lung
18	chr4:125860200-125863000	Enhancers	HMEC	breast
19	chr4:125860400-125862600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:125860400-125863000	Enhancers	NHEK	skin
21	chr4:125860600-125861800	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:125860800-125861600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:125860800-125861600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:125860800-125862800	Enhancers	NH-A	brain
25	chr4:125861000-125862000	Enhancers	Fetal Heart	heart
26	chr4:125861000-125862400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr4:125861000-125863800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:125861200-125861600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:125861200-125861600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:125861200-125861800	Enhancers	Adipose Nuclei	Adipose
31	chr4:125861200-125862000	Enhancers	Fetal Stomach	stomach
32	chr4:125861200-125862200	Enhancers	HSMMtube	muscle
33	chr4:125861200-125862600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:125861200-125866600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:125861400-125862000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:125861400-125862000	Enhancers	Rectal Smooth Muscle	rectum
37	chr4:125861400-125862000	Enhancers	Stomach Mucosa	stomach
38	chr4:125861400-125862000	Enhancers	Stomach Smooth Muscle	stomach
39	chr4:125861400-125862400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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