Variant report

Variant	rs2268199
Chromosome Location	chr20:23015092-23015093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23015091-23015141	HEEpiC	esophagus:	n/a
2	chr20:23015091-23015141	HCPEpiC	choroid plexus:	n/a
3	chr20:23015091-23015141	SKMC	muscle:	n/a
4	chr20:23015091-23015141	CMK	blood:	n/a
5	chr20:23015091-23015141	HUVEC	blood vessel:	n/a
6	chr20:23015091-23015141	HL-60	blood:	n/a
7	chr20:23015091-23015141	Hela-S3	cervix:	n/a
8	chr20:23015091-23015141	HAEpiC	amniotic membrane:	n/a
9	chr20:23015091-23015141	SK-N-MC	brain:	n/a
10	chr20:23015091-23015141	ovcar-3	ovarian:	n/a
11	chr20:23015091-23015141	GM12892	blood:	n/a
12	chr20:23015091-23015141	GM06990	blood:	n/a
13	chr20:23015091-23015141	GM12891	blood:	n/a
14	chr20:23015091-23015141	H1-hESC	embryonic stem cell:	embryo
15	chr20:23015091-23015141	LNCaP	prostate:	n/a
16	chr20:23015091-23015141	HepG2	liver:	n/a
17	chr20:23015091-23015141	GM12878	blood:	n/a
18	chr20:23015091-23015141	SK-N-SH	brain:	n/a
19	chr20:23015091-23015141	GM19239	blood:	n/a
20	chr20:23015091-23015141	BE2_C	brain:	n/a
21	chr20:23015091-23015141	MCF10A-Er-Src	breast:	n/a
22	chr20:23015091-23015141	HMEC	breast:	n/a
23	chr20:23015091-23015141	NB4	blood:	n/a
24	chr20:23015091-23015141	HIPEpiC	eye:	n/a
25	chr20:23015091-23015141	ProgFib	skin:	n/a
26	chr20:23015091-23015141	HNPCEpiC	eye:	n/a
27	chr20:23015091-23015141	AG04450	lung:	fetal
28	chr20:23015091-23015141	AoSMC	blood vessel:	n/a
29	chr20:23015091-23015141	U87	brain:	n/a
30	chr20:23015091-23015141	PANC-1	pancreas:	n/a
31	chr20:23015091-23015141	HCM	heart:	n/a
32	chr20:23015091-23015141	NHDF-neo	bronchial:	n/a
33	chr20:23015091-23015141	HCT-116	colon:	n/a
34	chr20:23015091-23015141	A549	lung:	n/a
35	chr20:23015091-23015141	AG09309	skin:	n/a
36	chr20:23015091-23015141	HCF	heart:	n/a
37	chr20:23015091-23015141	ECC-1	luminal epithelium:	n/a
38	chr20:23015091-23015141	IMR90	lung:	fetal
39	chr20:23015091-23015141	Jurkat	blood:	n/a
40	chr20:23015091-23015141	HRCEpiC	kidney:	n/a
41	chr20:23015091-23015141	PrEC	prostate:	n/a
42	chr20:23015091-23015141	HEK293	kidney:	embryo
43	chr20:23015091-23015141	NT2-D1	testis:	n/a
44	chr20:23015091-23015141	AG09319	gingival:	n/a
45	chr20:23015091-23015141	HPAEpiC	pulmonary alveolar:	n/a
46	chr20:23015091-23015141	HRPEpiC	eye:	n/a
47	chr20:23015091-23015141	MCF-7	breast:	n/a
48	chr20:23015091-23015141	HRE	kidney:	n/a
49	chr20:23015091-23015141	RPTEC	kidney:	n/a
50	chr20:23015091-23015141	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23013696..23015304-chr20:23018702..23020463,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230492	CpG island
ENSG00000234646	CpG island
SSTR4	CpG island
ENSG00000234646	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10485639	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13036275	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1331071	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1883956	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2207106	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2207107	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2268197	0.86[AFR][1000 genomes]
rs34217171	0.82[EUR][1000 genomes]
rs34854430	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34980833	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35745073	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36016048	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3746726	0.81[ASW][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.87[MKK][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3746728	0.91[ASW][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.96[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6076008	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6076009	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs6076010	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076012	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076013	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6082974	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6082975	0.84[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6082977	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6082981	0.81[CEU][hapmap]
rs6082986	0.83[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6106596	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6113905	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6113908	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6515299	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7262749	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8120756	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23001000-23015800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:23013200-23016200	Weak transcription	Lung	lung
3	chr20:23013200-23017400	Enhancers	Fetal Heart	heart
4	chr20:23014000-23015600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr20:23014000-23015800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:23014600-23016200	Weak transcription	Dnd41	blood

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