Variant report

Variant	rs12499601
Chromosome Location	chr4:7699703-7699704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7692723..7694463-chr4:7698220..7700534,2	MCF-7	breast:
2	chr4:7694728..7697240-chr4:7698261..7700395,2	K562	blood:
3	chr4:7699653..7702517-chr4:7705620..7707138,2	MCF-7	breast:
4	chr4:7698086..7700809-chr4:7704833..7706494,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4585302	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55777606	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62290732	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73204709	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv508272	chr4:7591967-7722112	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv878571	chr4:7637297-7743283	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv432557	chr4:7672785-7719249	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv432559	chr4:7680536-7719249	ZNF genes & repeats Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv432563	chr4:7683417-7717629	Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv432564	chr4:7683417-7719249	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv878572	chr4:7693469-7730392	Enhancers Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv878573	chr4:7698316-7730392	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7679800-7715600	Weak transcription	Brain Germinal Matrix	brain
2	chr4:7685600-7707000	Weak transcription	Fetal Intestine Small	intestine
3	chr4:7686200-7721000	Weak transcription	Brain Anterior Caudate	brain
4	chr4:7691600-7705400	Weak transcription	Brain Substantia Nigra	brain
5	chr4:7691600-7716200	Weak transcription	Brain Angular Gyrus	brain
6	chr4:7694000-7712600	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:7694200-7712600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:7698200-7700800	Enhancers	Fetal Muscle Leg	muscle
9	chr4:7698200-7704800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:7698800-7699800	Bivalent Enhancer	Fetal Stomach	stomach
11	chr4:7698800-7699800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
12	chr4:7699000-7700400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:7699000-7705000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:7699200-7700200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
15	chr4:7699400-7699800	Enhancers	Fetal Brain Male	brain
16	chr4:7699400-7700000	Enhancers	Stomach Smooth Muscle	stomach
17	chr4:7699400-7701600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr4:7699400-7701600	Enhancers	Spleen	Spleen
19	chr4:7699400-7721200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:7699600-7699800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr4:7699600-7699800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr4:7699600-7699800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:7699600-7701600	Enhancers	Ovary	ovary

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