Variant report

Variant	rs62125673
Chromosome Location	chr2:20809765-20809766
allele	C/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	MAZ	chr2:20809761-20809996	HepG2	liver:	n/a	n/a
2	HNF4A	chr2:20809636-20810075	HepG2	liver:	n/a	chr2:20809860-20809875
3	HNF4A	chr2:20809664-20810016	HepG2	liver:	n/a	chr2:20809860-20809875
4	HNF4G	chr2:20809739-20810086	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20807683..20810867-chr2:20811760..20818347,7	MCF-7	breast:
2	chr2:20792451..20795082-chr2:20807654..20810315,4	MCF-7	breast:
3	chr2:20803088..20804929-chr2:20807955..20810549,2	K562	blood:
4	chr2:20807940..20810895-chr2:20811294..20813861,2	K562	blood:

Variant related genes	Relation type
ENSG00000233416	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16987945	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4426492	0.86[ASN][1000 genomes]
rs55766730	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60631754	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62122090	0.86[ASN][1000 genomes]
rs62122091	0.86[ASN][1000 genomes]
rs62125672	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62125674	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62125675	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62125676	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62125677	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6708069	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72784303	0.86[ASN][1000 genomes]
rs73916905	0.84[AMR][1000 genomes]
rs73916930	0.86[ASN][1000 genomes]
rs73916931	0.86[ASN][1000 genomes]
rs896737	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20797000-20810600	Weak transcription	Colonic Mucosa	Colon
2	chr2:20797600-20810600	Weak transcription	Fetal Kidney	kidney
3	chr2:20797800-20810800	Weak transcription	Gastric	stomach
4	chr2:20799200-20809800	Weak transcription	Spleen	Spleen
5	chr2:20800400-20809800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:20803200-20814000	Weak transcription	HSMM	muscle
7	chr2:20804400-20813400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:20805200-20813600	Weak transcription	HMEC	breast
9	chr2:20805200-20813800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:20805200-20814000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:20805200-20816000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:20808400-20809800	Enhancers	Brain Angular Gyrus	brain
13	chr2:20808400-20810000	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:20808400-20810000	Enhancers	Brain Hippocampus Middle	brain
15	chr2:20808400-20810000	Enhancers	Osteobl	bone
16	chr2:20808400-20810200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:20808400-20810600	Enhancers	HepG2	liver
18	chr2:20808400-20811800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:20808400-20811800	Enhancers	Fetal Intestine Large	intestine
20	chr2:20808400-20811800	Enhancers	Fetal Muscle Trunk	muscle
21	chr2:20808400-20813600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:20808400-20814200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:20808400-20816400	Enhancers	Rectal Smooth Muscle	rectum
24	chr2:20808400-20816600	Enhancers	Colon Smooth Muscle	Colon
25	chr2:20808400-20816800	Enhancers	Adipose Nuclei	Adipose
26	chr2:20808400-20819600	Enhancers	Fetal Muscle Leg	muscle
27	chr2:20808600-20810000	Enhancers	Fetal Brain Male	brain
28	chr2:20808600-20810000	Enhancers	Lung	lung
29	chr2:20808600-20810000	Enhancers	Psoas Muscle	Psoas
30	chr2:20808600-20810000	Enhancers	NH-A	brain
31	chr2:20808600-20810000	Enhancers	NHDF-Ad	bronchial
32	chr2:20808600-20811800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:20808600-20812000	Enhancers	Fetal Stomach	stomach
34	chr2:20808600-20812000	Enhancers	Left Ventricle	heart
35	chr2:20808600-20812000	Enhancers	Right Atrium	heart
36	chr2:20808600-20812000	Enhancers	Right Ventricle	heart
37	chr2:20808600-20812000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:20808600-20812400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:20808600-20818600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:20808600-20819400	Enhancers	Brain Anterior Caudate	brain
41	chr2:20808600-20819800	Enhancers	Brain Substantia Nigra	brain
42	chr2:20808800-20809800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:20808800-20809800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:20808800-20809800	Enhancers	Fetal Heart	heart
45	chr2:20808800-20810000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:20808800-20810000	Enhancers	Fetal Lung	lung
47	chr2:20808800-20811800	Enhancers	NHLF	lung
48	chr2:20808800-20812000	Enhancers	Ovary	ovary
49	chr2:20809000-20810000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:20809000-20817200	Weak transcription	Primary monocytes fromperipheralblood	blood

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