Variant report

Variant	rs58912103
Chromosome Location	chr4:8298290-8298291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8296392..8301185-chr4:8301650..8305548,7	K562	blood:
2	chr4:8292974..8294945-chr4:8297191..8300156,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1281147	1.00[EUR][1000 genomes]
rs1292647	1.00[EUR][1000 genomes]
rs28572219	1.00[EUR][1000 genomes]
rs28620285	1.00[EUR][1000 genomes]
rs4696813	1.00[EUR][1000 genomes]
rs57584841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60246256	1.00[EUR][1000 genomes]
rs60263323	1.00[EUR][1000 genomes]
rs60368234	1.00[EUR][1000 genomes]
rs61335356	1.00[EUR][1000 genomes]
rs6823593	1.00[EUR][1000 genomes]
rs73083700	1.00[EUR][1000 genomes]
rs73801722	0.83[AMR][1000 genomes];1.00[EUR][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	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv878600	chr4:8209447-8312158	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv461218	chr4:8254784-8320126	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv593628	chr4:8254784-8320126	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv878603	chr4:8289807-8312158	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8279000-8317200	Weak transcription	Gastric	stomach
2	chr4:8283800-8305200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:8285800-8299400	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr4:8285800-8305600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:8286000-8299000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:8287800-8300600	Strong transcription	Fetal Stomach	stomach
7	chr4:8288000-8299200	Strong transcription	Fetal Muscle Leg	muscle
8	chr4:8288400-8299200	Strong transcription	Stomach Smooth Muscle	stomach
9	chr4:8288600-8307800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:8290600-8298400	Strong transcription	Ovary	ovary
11	chr4:8291200-8300000	Strong transcription	Right Ventricle	heart
12	chr4:8291400-8299200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr4:8293400-8298600	Strong transcription	Adipose Nuclei	Adipose
14	chr4:8293400-8299600	Weak transcription	HSMMtube	muscle
15	chr4:8294200-8305200	Weak transcription	Fetal Intestine Small	intestine
16	chr4:8294400-8299400	Weak transcription	Fetal Kidney	kidney
17	chr4:8295000-8299800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:8295200-8310400	Weak transcription	Fetal Intestine Large	intestine
19	chr4:8297000-8307400	Weak transcription	Fetal Heart	heart
20	chr4:8297200-8299200	Enhancers	K562	blood
21	chr4:8297200-8308000	Weak transcription	Fetal Lung	lung
22	chr4:8297400-8303800	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:8297600-8298600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:8297600-8300800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:8297600-8300800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:8297600-8301600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:8297600-8303800	Weak transcription	Spleen	Spleen
28	chr4:8297600-8305000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:8297600-8307400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:8297800-8299400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:8298000-8299200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:8298000-8299400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:8298000-8305600	Weak transcription	Left Ventricle	heart

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