Variant report

Variant	rs6106596
Chromosome Location	chr20:23018109-23018110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr20:23017703-23018158	U2OS	brain:	n/a	n/a
2	TCF7L2	chr20:23017473-23018450	HEK293	kidney:	n/a	chr20:23018031-23018040 chr20:23018032-23018041 chr20:23018032-23018042 chr20:23018028-23018044 chr20:23018028-23018044
3	KAP1	chr20:23017670-23018142	HEK293	kidney:	n/a	n/a
4	ZNF263	chr20:23017379-23018138	HEK293-T-REx	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23018108-23018158	MCF10A-Er-Src	breast:	n/a
2	chr20:23018108-23018158	HEK293	kidney:	embryo
3	chr20:23018108-23018158	AG10803	skin:	n/a
4	chr20:23018108-23018158	HepG2	liver:	n/a
5	chr20:23018108-23018158	AG09319	gingival:	n/a
6	chr20:23018108-23018158	RPTEC	kidney:	n/a
7	chr20:23018108-23018158	BE2_C	brain:	n/a
8	chr20:23018108-23018158	HUVEC	blood vessel:	n/a
9	chr20:23018108-23018158	H1-hESC	embryonic stem cell:	embryo
10	chr20:23018108-23018158	GM12878	blood:	n/a
11	chr20:23018108-23018158	GM12892	blood:	n/a
12	chr20:23018108-23018158	ECC-1	luminal epithelium:	n/a
13	chr20:23018108-23018158	HNPCEpiC	eye:	n/a
14	chr20:23018108-23018158	HL-60	blood:	n/a
15	chr20:23018108-23018158	MCF-7	breast:	n/a
16	chr20:23018108-23018158	NT2-D1	testis:	n/a
17	chr20:23018108-23018158	HRPEpiC	eye:	n/a
18	chr20:23018108-23018158	CMK	blood:	n/a
19	chr20:23018108-23018158	HAEpiC	amniotic membrane:	n/a
20	chr20:23018108-23018158	NH-A	brain:	n/a
21	chr20:23018108-23018158	AG04449	skin:	fetal
22	chr20:23018108-23018158	AoSMC	blood vessel:	n/a
23	chr20:23018108-23018158	HCT-116	colon:	n/a
24	chr20:23018108-23018158	AG09309	skin:	n/a
25	chr20:23018108-23018158	PFSK-1	brain:	n/a
26	chr20:23018108-23018158	SK-N-SH_RA	brain:	n/a
27	chr20:23018108-23018158	SAEC	small airway:	n/a
28	chr20:23018108-23018158	LNCaP	prostate:	n/a
29	chr20:23018108-23018158	ovcar-3	ovarian:	n/a
30	chr20:23018108-23018158	AG04450	lung:	fetal
31	chr20:23018108-23018158	PANC-1	pancreas:	n/a
32	chr20:23018108-23018158	U87	brain:	n/a
33	chr20:23018108-23018158	PrEC	prostate:	n/a
34	chr20:23018108-23018158	ProgFib	skin:	n/a
35	chr20:23018108-23018158	HPAEpiC	pulmonary alveolar:	n/a
36	chr20:23018108-23018158	HCM	heart:	n/a
37	chr20:23018108-23018158	SK-N-SH	brain:	n/a
38	chr20:23018108-23018158	BJ	skin:	n/a
39	chr20:23018108-23018158	HMEC	breast:	n/a
40	chr20:23018108-23018158	GM19239	blood:	n/a
41	chr20:23018108-23018158	NHBE	bronchial:	n/a
42	chr20:23018108-23018158	GM06990	blood:	n/a
43	chr20:23018108-23018158	A549	lung:	n/a
44	chr20:23018108-23018158	HRE	kidney:	n/a
45	chr20:23018108-23018158	HIPEpiC	eye:	n/a
46	chr20:23018108-23018158	HEEpiC	esophagus:	n/a
47	chr20:23018108-23018158	K562	blood:	n/a
48	chr20:23018108-23018158	HCPEpiC	choroid plexus:	n/a
49	chr20:23018108-23018158	NHDF-neo	bronchial:	n/a
50	chr20:23018108-23018158	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23017212..23020123-chr20:23028174..23031939,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234646	TF binding region
ENSG00000234646	CpG island
ENSG00000178726	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10485639	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13036275	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1331071	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1883956	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2207106	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207107	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268197	0.85[AFR][1000 genomes]
rs2268199	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34217171	0.88[EUR][1000 genomes]
rs34854430	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34980833	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35745073	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36016048	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3746726	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3746728	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076008	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6076010	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6076012	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6076013	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6082974	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6082975	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6082977	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6082986	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6113905	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6113908	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6515299	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7262749	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8120756	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs874585	0.83[EUR][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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv524981	chr20:23011468-23021597	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3400736	chr20:23014752-23018200	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23016000-23026000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr20:23016200-23019200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr20:23016200-23019600	Enhancers	Dnd41	blood
4	chr20:23016200-23020600	Weak transcription	Right Atrium	heart
5	chr20:23016200-23028200	Weak transcription	Aorta	Aorta
6	chr20:23016600-23023600	Weak transcription	Gastric	stomach
7	chr20:23017600-23024600	Weak transcription	Spleen	Spleen
8	chr20:23017800-23020800	Weak transcription	Esophagus	oesophagus
9	chr20:23018000-23019400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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