Variant report

Variant	rs41372845
Chromosome Location	chr20:23063142-23063143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:23061862-23067996	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr20:23058358-23068293	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr20:23063105-23065080	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23063119-23063169	HUVEC	blood vessel:	n/a
2	chr20:23063119-23063169	K562	blood:	n/a
3	chr20:23063119-23063169	NB4	blood:	n/a
4	chr20:23063119-23063169	HMEC	breast:	n/a
5	chr20:23063119-23063169	T-47D	breast:	n/a
6	chr20:23063119-23063169	A549	lung:	n/a
7	chr20:23063119-23063169	PFSK-1	brain:	n/a
8	chr20:23063119-23063169	AG04449	skin:	fetal
9	chr20:23063119-23063169	AG09309	skin:	n/a
10	chr20:23063119-23063169	HRPEpiC	eye:	n/a
11	chr20:23063119-23063169	SK-N-SH	brain:	n/a
12	chr20:23063119-23063169	AG10803	skin:	n/a
13	chr20:23063119-23063169	BJ	skin:	n/a
14	chr20:23063119-23063169	GM19239	blood:	n/a
15	chr20:23063119-23063169	NHBE	bronchial:	n/a
16	chr20:23063119-23063169	GM12891	blood:	n/a
17	chr20:23063119-23063169	SAEC	small airway:	n/a
18	chr20:23063119-23063169	IMR90	lung:	fetal
19	chr20:23063119-23063169	AoSMC	blood vessel:	n/a
20	chr20:23063119-23063169	Hepatocyte	liver:	n/a
21	chr20:23063119-23063169	HRCEpiC	kidney:	n/a
22	chr20:23063119-23063169	NT2-D1	testis:	n/a
23	chr20:23063119-23063169	Hela-S3	cervix:	n/a
24	chr20:23063119-23063169	H1-hESC	embryonic stem cell:	embryo
25	chr20:23063119-23063169	MCF-7	breast:	n/a
26	chr20:23063119-23063169	HEK293	kidney:	embryo
27	chr20:23063119-23063169	HPAEpiC	pulmonary alveolar:	n/a
28	chr20:23063119-23063169	HAEpiC	amniotic membrane:	n/a
29	chr20:23063119-23063169	SK-N-SH_RA	brain:	n/a
30	chr20:23063119-23063169	ovcar-3	ovarian:	n/a
31	chr20:23063119-23063169	RPTEC	kidney:	n/a
32	chr20:23063119-23063169	GM12878	blood:	n/a
33	chr20:23063119-23063169	HEEpiC	esophagus:	n/a
34	chr20:23063119-23063169	AG09319	gingival:	n/a
35	chr20:23063119-23063169	ProgFib	skin:	n/a
36	chr20:23063119-23063169	GM06990	blood:	n/a
37	chr20:23063119-23063169	PrEC	prostate:	n/a
38	chr20:23063119-23063169	MCF10A-Er-Src	breast:	n/a
39	chr20:23063119-23063169	Caco-2	colon:	n/a
40	chr20:23063119-23063169	SKMC	muscle:	n/a
41	chr20:23063119-23063169	HIPEpiC	eye:	n/a
42	chr20:23063119-23063169	GM12892	blood:	n/a
43	chr20:23063119-23063169	HRE	kidney:	n/a
44	chr20:23063119-23063169	HNPCEpiC	eye:	n/a
45	chr20:23063119-23063169	HCPEpiC	choroid plexus:	n/a
46	chr20:23063119-23063169	HL-60	blood:	n/a
47	chr20:23063119-23063169	PANC-1	pancreas:	n/a
48	chr20:23063119-23063169	HepG2	liver:	n/a
49	chr20:23063119-23063169	HCF	heart:	n/a
50	chr20:23063119-23063169	CMK	blood:	n/a

(count:2 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
ENSG00000256492	TF binding region
ENSG00000256492	CpG island

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17829240	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6036299	0.82[ASN][1000 genomes]
rs6036300	0.82[ASN][1000 genomes]
rs6036301	0.95[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6048532	0.82[ASN][1000 genomes]
rs6048534	0.95[AFR][1000 genomes];0.82[ASN][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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23043600-23066600	Weak transcription	Aorta	Aorta
2	chr20:23054000-23063400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr20:23059800-23063400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr20:23060200-23063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr20:23060200-23066600	Weak transcription	K562	blood
6	chr20:23060800-23063400	Weak transcription	Fetal Heart	heart
7	chr20:23060800-23064000	Weak transcription	Fetal Intestine Small	intestine
8	chr20:23061200-23064600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
9	chr20:23061600-23063600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr20:23061600-23063600	Weak transcription	Esophagus	oesophagus
11	chr20:23061600-23064600	Weak transcription	Gastric	stomach
12	chr20:23061600-23066200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr20:23061800-23063400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr20:23061800-23064600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
15	chr20:23062000-23063400	Enhancers	Spleen	Spleen
16	chr20:23062000-23064200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
17	chr20:23062400-23063400	Enhancers	Fetal Thymus	thymus
18	chr20:23062400-23063600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr20:23062400-23063800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
20	chr20:23062400-23064600	Active TSS	Fetal Muscle Trunk	muscle
21	chr20:23062400-23065600	Active TSS	Stomach Smooth Muscle	stomach
22	chr20:23062400-23066600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr20:23062400-23067000	Active TSS	Right Ventricle	heart
24	chr20:23062400-23067400	Enhancers	Fetal Lung	lung
25	chr20:23062600-23063200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr20:23062600-23065800	Active TSS	Fetal Muscle Leg	muscle
27	chr20:23062600-23066600	Weak transcription	Ovary	ovary
28	chr20:23062600-23066600	Active TSS	Right Atrium	heart
29	chr20:23062600-23066600	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr20:23062800-23063200	Weak transcription	Placenta	Placenta
31	chr20:23062800-23063600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr20:23062800-23063800	Enhancers	Primary T cells from cord blood	blood
33	chr20:23062800-23063800	Weak transcription	Brain Hippocampus Middle	brain
34	chr20:23062800-23065400	Active TSS	Adipose Nuclei	Adipose
35	chr20:23062800-23066000	Active TSS	Primary B cells from cord blood	blood
36	chr20:23062800-23067000	Active TSS	Left Ventricle	heart
37	chr20:23062800-23067000	Active TSS	Psoas Muscle	Psoas
38	chr20:23062800-23067600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr20:23063000-23063200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr20:23063000-23063200	Flanking Active TSS	Lung	lung
41	chr20:23063000-23063800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr20:23063000-23066800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr20:23063000-23067000	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr20:23063000-23067200	Active TSS	Skeletal Muscle Female	skeletal muscle

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