Variant report

Variant	rs58596458
Chromosome Location	chr3:191059529-191059530
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:191059055..191059627-chr3:191094564..191095535,2	MCF-7	breast:
2	chr3:191059352..191062066-chr3:191073918..191075676,3	K562	blood:
3	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:

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

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

rs_ID	r²[population]
rs10513865	0.81[ASN][1000 genomes]
rs1369278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1369279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474188	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16822368	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16822380	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16848976	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16866501	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16866503	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16866506	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2117548	0.81[ASN][1000 genomes]
rs2293379	0.81[ASN][1000 genomes]
rs4247189	1.00[ASN][1000 genomes]
rs4247190	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4677724	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4677731	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57369465	1.00[ASN][1000 genomes]
rs57831251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58077600	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58631024	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58648691	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60089463	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60204557	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9812544	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv4169	chr3:191036298-191063465	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv461049	chr3:191059322-191069984	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv592819	chr3:191059322-191069984	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191049200-191060600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:191049800-191061600	Weak transcription	HSMMtube	muscle
3	chr3:191050200-191060200	Weak transcription	Psoas Muscle	Psoas
4	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:191050600-191060400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:191051200-191060200	Weak transcription	Brain Substantia Nigra	brain
7	chr3:191051400-191060000	Weak transcription	Brain Germinal Matrix	brain
8	chr3:191051400-191060200	Weak transcription	Brain Anterior Caudate	brain
9	chr3:191051400-191060200	Weak transcription	Right Ventricle	heart
10	chr3:191052200-191062400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:191055400-191061800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:191055600-191062000	Enhancers	HepG2	liver
13	chr3:191056000-191061000	Enhancers	Liver	Liver
14	chr3:191056200-191062200	Enhancers	Fetal Brain Male	brain
15	chr3:191056200-191063400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:191056400-191060000	Weak transcription	HSMM	muscle
17	chr3:191056800-191062000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:191057000-191059800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:191057400-191062000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:191057600-191060000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:191057600-191060400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:191057600-191060400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:191057600-191060400	Weak transcription	Primary B cells from cord blood	blood
24	chr3:191057600-191060800	Weak transcription	NH-A	brain
25	chr3:191057800-191059800	Weak transcription	Fetal Lung	lung
26	chr3:191057800-191059800	Weak transcription	Hela-S3	cervix
27	chr3:191057800-191060200	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:191057800-191060400	Weak transcription	NHDF-Ad	bronchial
29	chr3:191057800-191060800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:191057800-191061600	Weak transcription	K562	blood
31	chr3:191057800-191061800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:191057800-191062600	Weak transcription	Aorta	Aorta
33	chr3:191058000-191060600	Weak transcription	NHEK	skin
34	chr3:191058200-191060000	Weak transcription	Fetal Brain Female	brain
35	chr3:191058200-191060800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:191058400-191061400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr3:191058600-191061000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr3:191058600-191061000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr3:191058600-191061200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:191058800-191060400	Weak transcription	Pancreas	Pancrea
41	chr3:191058800-191063400	Enhancers	Colon Smooth Muscle	Colon
42	chr3:191059000-191059600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:191059000-191059600	Enhancers	GM12878-XiMat	blood
44	chr3:191059000-191060400	Weak transcription	Left Ventricle	heart
45	chr3:191059000-191060400	Weak transcription	Ovary	ovary
46	chr3:191059200-191059600	Enhancers	Small Intestine	intestine
47	chr3:191059200-191060600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr3:191059200-191061000	Enhancers	A549	lung
49	chr3:191059200-191061400	Enhancers	HUVEC	blood vessel
50	chr3:191059200-191061600	Enhancers	Muscle Satellite Cultured Cells	--

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