Variant report

Variant	rs3746731
Chromosome Location	chr20:23065209-23065210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:23064885-23067326	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr20:23065132-23067938	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr20:23063275-23068192	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr20:23061862-23067996	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr20:23058358-23068293	HUVEC	blood vessel:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23063289..23065517-chr20:23156709..23159666,2	K562	blood:
2	chr20:23064363..23066368-chr20:23127818..23130287,3	K562	blood:
3	chr20:23064609..23066913-chr20:23084404..23086526,2	K562	blood:
4	chr20:23063365..23065588-chr20:23067624..23069134,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256492	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11087413	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6076019	0.96[CEU][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6113935	0.90[EUR][1000 genomes]
rs6132562	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6137821	0.93[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv526474	chr20:23065209-23073904	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23043600-23066600	Weak transcription	Aorta	Aorta
2	chr20:23060200-23066600	Weak transcription	K562	blood
3	chr20:23061600-23066200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr20:23062400-23065600	Active TSS	Stomach Smooth Muscle	stomach
5	chr20:23062400-23066600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr20:23062400-23067000	Active TSS	Right Ventricle	heart
7	chr20:23062400-23067400	Enhancers	Fetal Lung	lung
8	chr20:23062600-23065800	Active TSS	Fetal Muscle Leg	muscle
9	chr20:23062600-23066600	Weak transcription	Ovary	ovary
10	chr20:23062600-23066600	Active TSS	Right Atrium	heart
11	chr20:23062600-23066600	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr20:23062800-23065400	Active TSS	Adipose Nuclei	Adipose
13	chr20:23062800-23066000	Active TSS	Primary B cells from cord blood	blood
14	chr20:23062800-23067000	Active TSS	Left Ventricle	heart
15	chr20:23062800-23067000	Active TSS	Psoas Muscle	Psoas
16	chr20:23062800-23067600	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr20:23063000-23066800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr20:23063000-23067000	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr20:23063000-23067200	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr20:23063200-23067000	Active TSS	Placenta	Placenta
21	chr20:23063400-23067000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr20:23063400-23067600	Active TSS	Duodenum Mucosa	Duodenum
23	chr20:23063800-23066400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr20:23063800-23067000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr20:23063800-23067200	Active TSS	Brain Hippocampus Middle	brain
26	chr20:23063800-23067400	Active TSS	Liver	Liver
27	chr20:23064000-23066600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr20:23064000-23066600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr20:23064000-23067000	Active TSS	Fetal Intestine Small	intestine
30	chr20:23064000-23067000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr20:23064000-23067400	Flanking Active TSS	Fetal Thymus	thymus
32	chr20:23064000-23067400	Active TSS	Rectal Smooth Muscle	rectum
33	chr20:23064000-23072000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr20:23064200-23067000	Active TSS	Fetal Intestine Large	intestine
35	chr20:23064200-23072000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr20:23064200-23072400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr20:23064400-23065400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr20:23064400-23066000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr20:23064400-23066000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr20:23064400-23067200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr20:23064600-23065600	Active TSS	HUVEC	blood vessel
42	chr20:23064600-23065800	Active TSS	Gastric	stomach
43	chr20:23064600-23066600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr20:23064600-23066600	Enhancers	Spleen	Spleen
45	chr20:23064600-23067000	Active TSS	Colonic Mucosa	Colon
46	chr20:23064600-23067000	Active TSS	Pancreas	Pancrea
47	chr20:23064600-23068600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr20:23064800-23065600	Weak transcription	Brain Substantia Nigra	brain
49	chr20:23064800-23065600	Weak transcription	Fetal Kidney	kidney
50	chr20:23064800-23066400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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