Variant report

Variant	rs2749813
Chromosome Location	chr20:23062984-23062985
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	RUNX3	chr20:23062818-23063086	GM12878	blood:	n/a	n/a
2	POLR2A	chr20:23061862-23067996	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr20:23061613-23063076	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr20:23058358-23068293	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23052466..23054957-chr20:23062982..23064859,2	K562	blood:
2	chr20:23062655..23064534-chr20:23114013..23116942,2	K562	blood:

Variant related genes	Relation type
ENSG00000256492	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1040588	0.89[EUR][1000 genomes]
rs1821119	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1835702	0.89[EUR][1000 genomes]
rs1835703	0.85[EUR][1000 genomes]
rs1835704	0.88[EUR][1000 genomes]
rs1998079	0.94[EUR][1000 genomes]
rs1998080	1.00[CEU][hapmap];0.92[GIH][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs2007743	0.88[CEU][hapmap];0.90[GIH][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs2019632	0.90[EUR][1000 genomes]
rs2144939	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2255937	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs2424503	0.89[CEU][hapmap];0.84[GIH][hapmap];0.82[EUR][1000 genomes]
rs2424509	0.91[EUR][1000 genomes]
rs2424510	0.91[EUR][1000 genomes]
rs2424511	0.84[EUR][1000 genomes]
rs2567619	0.91[EUR][1000 genomes]
rs2749817	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6036291	0.91[EUR][1000 genomes]
rs6048519	0.85[CEU][hapmap]
rs6048526	0.91[EUR][1000 genomes]
rs6048533	0.92[EUR][1000 genomes]
rs6076016	0.89[CEU][hapmap];0.84[GIH][hapmap];0.81[EUR][1000 genomes]
rs6082997	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083000	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2749813	THBD	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23043400-23063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23043600-23066600	Weak transcription	Aorta	Aorta
3	chr20:23054000-23063400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr20:23059800-23063400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr20:23060200-23063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:23060200-23066600	Weak transcription	K562	blood
7	chr20:23060800-23063400	Weak transcription	Fetal Heart	heart
8	chr20:23060800-23064000	Weak transcription	Fetal Intestine Small	intestine
9	chr20:23061200-23064600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
10	chr20:23061400-23063000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr20:23061400-23063000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr20:23061600-23063600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr20:23061600-23063600	Weak transcription	Esophagus	oesophagus
14	chr20:23061600-23064600	Weak transcription	Gastric	stomach
15	chr20:23061600-23066200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr20:23061800-23063400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr20:23061800-23064600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
18	chr20:23062000-23063400	Enhancers	Spleen	Spleen
19	chr20:23062000-23064200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
20	chr20:23062400-23063400	Enhancers	Fetal Thymus	thymus
21	chr20:23062400-23063600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr20:23062400-23063800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
23	chr20:23062400-23064600	Active TSS	Fetal Muscle Trunk	muscle
24	chr20:23062400-23065600	Active TSS	Stomach Smooth Muscle	stomach
25	chr20:23062400-23066600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr20:23062400-23067000	Active TSS	Right Ventricle	heart
27	chr20:23062400-23067400	Enhancers	Fetal Lung	lung
28	chr20:23062600-23063000	Enhancers	Lung	lung
29	chr20:23062600-23063200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr20:23062600-23065800	Active TSS	Fetal Muscle Leg	muscle
31	chr20:23062600-23066600	Weak transcription	Ovary	ovary
32	chr20:23062600-23066600	Active TSS	Right Atrium	heart
33	chr20:23062600-23066600	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr20:23062800-23063200	Weak transcription	Placenta	Placenta
35	chr20:23062800-23063600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr20:23062800-23063800	Enhancers	Primary T cells from cord blood	blood
37	chr20:23062800-23063800	Weak transcription	Brain Hippocampus Middle	brain
38	chr20:23062800-23065400	Active TSS	Adipose Nuclei	Adipose
39	chr20:23062800-23066000	Active TSS	Primary B cells from cord blood	blood
40	chr20:23062800-23067000	Active TSS	Left Ventricle	heart
41	chr20:23062800-23067000	Active TSS	Psoas Muscle	Psoas
42	chr20:23062800-23067600	Active TSS	Duodenum Smooth Muscle	Duodenum

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