Variant report

Variant	rs41489050
Chromosome Location	chr20:23063704-23063705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:23063275-23068192	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr20:23061862-23067996	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr20:23058358-23068293	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr20:23063304-23064852	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr20:23063105-23065080	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr20:23063503-23063786	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:23052466..23054957-chr20:23062982..23064859,2	K562	blood:
2	chr20:23063289..23065517-chr20:23156709..23159666,2	K562	blood:
3	chr20:23062655..23064534-chr20:23114013..23116942,2	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: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs41394246	1.00[AMR][1000 genomes]
rs844809	1.00[AMR][1000 genomes]
rs844812	1.00[AMR][1000 genomes]
rs844818	1.00[AMR][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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23043600-23066600	Weak transcription	Aorta	Aorta
2	chr20:23060200-23063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:23060200-23066600	Weak transcription	K562	blood
4	chr20:23060800-23064000	Weak transcription	Fetal Intestine Small	intestine
5	chr20:23061200-23064600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
6	chr20:23061600-23064600	Weak transcription	Gastric	stomach
7	chr20:23061600-23066200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr20:23061800-23064600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
9	chr20:23062000-23064200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
10	chr20:23062400-23063800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
11	chr20:23062400-23064600	Active TSS	Fetal Muscle Trunk	muscle
12	chr20:23062400-23065600	Active TSS	Stomach Smooth Muscle	stomach
13	chr20:23062400-23066600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr20:23062400-23067000	Active TSS	Right Ventricle	heart
15	chr20:23062400-23067400	Enhancers	Fetal Lung	lung
16	chr20:23062600-23065800	Active TSS	Fetal Muscle Leg	muscle
17	chr20:23062600-23066600	Weak transcription	Ovary	ovary
18	chr20:23062600-23066600	Active TSS	Right Atrium	heart
19	chr20:23062600-23066600	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr20:23062800-23063800	Enhancers	Primary T cells from cord blood	blood
21	chr20:23062800-23063800	Weak transcription	Brain Hippocampus Middle	brain
22	chr20:23062800-23065400	Active TSS	Adipose Nuclei	Adipose
23	chr20:23062800-23066000	Active TSS	Primary B cells from cord blood	blood
24	chr20:23062800-23067000	Active TSS	Left Ventricle	heart
25	chr20:23062800-23067000	Active TSS	Psoas Muscle	Psoas
26	chr20:23062800-23067600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr20:23063000-23063800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr20:23063000-23066800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr20:23063000-23067000	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr20:23063000-23067200	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr20:23063200-23064600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr20:23063200-23064600	Active TSS	Lung	lung
33	chr20:23063200-23067000	Active TSS	Placenta	Placenta
34	chr20:23063400-23063800	Enhancers	Fetal Heart	heart
35	chr20:23063400-23064000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr20:23063400-23064000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr20:23063400-23064000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr20:23063400-23064000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr20:23063400-23064000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr20:23063400-23064000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr20:23063400-23064200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr20:23063400-23064600	Weak transcription	Spleen	Spleen
43	chr20:23063400-23064600	Enhancers	NHEK	skin
44	chr20:23063400-23064800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr20:23063400-23064800	Enhancers	Dnd41	blood
46	chr20:23063400-23064800	Enhancers	HMEC	breast
47	chr20:23063400-23065000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr20:23063400-23067000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr20:23063400-23067600	Active TSS	Duodenum Mucosa	Duodenum
50	chr20:23063600-23063800	Enhancers	Pancreas	Pancrea

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