Variant report

Variant	rs1532493
Chromosome Location	chr4:125857939-125857940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:125632485..125635693-chr4:125853926..125858479,5	MCF-7	breast:
2	chr4:125857080..125860001-chr4:125867292..125869846,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151458	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10031287	1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1021628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11722357	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11729566	0.80[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11729651	0.80[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11732928	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11945096	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1384817	0.81[ASN][1000 genomes]
rs1483592	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1483599	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1483601	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1553093	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1553094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1553095	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1564721	0.80[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17184111	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17788496	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6824446	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72920861	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7695258	1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.96[ASN][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	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125844800-125860600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125853200-125859000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:125855200-125858000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:125855600-125858000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:125855600-125858200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:125856200-125858000	Enhancers	Brain Germinal Matrix	brain
7	chr4:125856200-125859000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:125856200-125859200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:125856200-125860600	Enhancers	Fetal Muscle Leg	muscle
10	chr4:125856200-125866800	Enhancers	Hela-S3	cervix
11	chr4:125856400-125860400	Weak transcription	NHEK	skin
12	chr4:125856600-125858200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:125856600-125858800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:125856600-125858800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:125856600-125859000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:125856600-125859800	Enhancers	Fetal Heart	heart
17	chr4:125856600-125860600	Weak transcription	Right Ventricle	heart
18	chr4:125856800-125858000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:125856800-125858400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:125856800-125858600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:125856800-125858600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:125856800-125859000	Enhancers	Fetal Lung	lung
23	chr4:125857000-125858000	Enhancers	Adipose Nuclei	Adipose
24	chr4:125857000-125858200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:125857000-125858200	Enhancers	NHLF	lung
26	chr4:125857200-125858000	Enhancers	Colon Smooth Muscle	Colon
27	chr4:125857200-125858200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr4:125857200-125858200	Enhancers	Stomach Mucosa	stomach
29	chr4:125857200-125858200	Enhancers	NHDF-Ad	bronchial
30	chr4:125857400-125858000	Enhancers	Ovary	ovary
31	chr4:125857400-125858000	Enhancers	NH-A	brain
32	chr4:125857400-125858000	Enhancers	Osteobl	bone
33	chr4:125857400-125858200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:125857400-125859000	Enhancers	Fetal Stomach	stomach
35	chr4:125857600-125858000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:125857600-125858000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:125857600-125858000	Enhancers	Esophagus	oesophagus
38	chr4:125857600-125858000	Enhancers	Lung	lung
39	chr4:125857600-125858000	Enhancers	Pancreas	Pancrea
40	chr4:125857600-125858000	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr4:125857600-125858000	Enhancers	HUVEC	blood vessel
42	chr4:125857600-125858200	Enhancers	Left Ventricle	heart
43	chr4:125857600-125858200	Enhancers	HSMM	muscle
44	chr4:125857600-125858600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:125857600-125859600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr4:125857600-125862600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:125857800-125858000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr4:125857800-125858000	Enhancers	Gastric	stomach
49	chr4:125857800-125858000	Enhancers	Right Atrium	heart
50	chr4:125857800-125858200	Enhancers	Brain Hippocampus Middle	brain

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