Variant report

Variant	rs6830885
Chromosome Location	chr4:126310508-126310509
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:126310033-126310510	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:126235254..126237583-chr4:126309909..126311775,2	MCF-7	breast:

Variant related genes	Relation type
FAT4	TF binding region
ENSG00000196159	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10014217	0.81[CHB][hapmap]
rs12498276	0.80[CHB][hapmap]
rs12501179	0.86[CHB][hapmap]
rs12511204	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs1354710	1.00[YRI][hapmap]
rs1355161	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1396686	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1533037	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1567047	1.00[YRI][hapmap]
rs17009509	1.00[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17009511	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17009520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17009526	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17009535	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17009848	1.00[YRI][hapmap]
rs2068148	1.00[YRI][hapmap]
rs2710544	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2710545	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710557	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2710562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2710563	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2710591	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2940780	1.00[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4272024	0.81[CHB][hapmap]
rs56995730	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57565770	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57945315	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58972262	1.00[EUR][1000 genomes]
rs6840704	1.00[EUR][1000 genomes]
rs885271	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[EUR][1000 genomes]
rs970289	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs972312	1.00[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers 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	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv470070	chr4:126299145-126408586	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126290800-126317600	Weak transcription	Fetal Brain Male	brain
2	chr4:126296000-126311200	Weak transcription	Aorta	Aorta
3	chr4:126305000-126310600	Weak transcription	Fetal Kidney	kidney
4	chr4:126308400-126336000	Weak transcription	Left Ventricle	heart
5	chr4:126308600-126311000	Enhancers	Osteobl	bone
6	chr4:126308800-126311200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:126308800-126311200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:126309000-126311200	Enhancers	NHDF-Ad	bronchial
9	chr4:126309000-126311400	Enhancers	NHLF	lung
10	chr4:126309000-126312000	Enhancers	Colon Smooth Muscle	Colon
11	chr4:126309200-126310600	Enhancers	HSMM	muscle
12	chr4:126309200-126310800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:126309200-126311000	Enhancers	Adipose Nuclei	Adipose
14	chr4:126309200-126311200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:126309200-126311200	Enhancers	HSMMtube	muscle
16	chr4:126309200-126311400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:126309200-126311400	Weak transcription	Brain Substantia Nigra	brain
18	chr4:126309200-126312000	Enhancers	Rectal Smooth Muscle	rectum
19	chr4:126309400-126311200	Enhancers	NH-A	brain
20	chr4:126309400-126311400	Weak transcription	Fetal Stomach	stomach
21	chr4:126309600-126311000	Enhancers	Fetal Heart	heart
22	chr4:126309800-126311800	Enhancers	Fetal Lung	lung
23	chr4:126309800-126312000	Enhancers	HMEC	breast
24	chr4:126309800-126312000	Enhancers	NHEK	skin
25	chr4:126309800-126312200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:126310000-126310600	Enhancers	A549	lung
27	chr4:126310000-126312000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:126310200-126310600	Enhancers	HUVEC	blood vessel
29	chr4:126310200-126311000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:126310200-126311200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:126310200-126311400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:126310400-126310800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:126310400-126310800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr4:126310400-126310800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:126310400-126310800	Weak transcription	Brain Angular Gyrus	brain

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