Variant report

Variant	rs6130003
Chromosome Location	chr20:40631679-40631680
allele	A/C
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:0)
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	chr20:40631638-40631688	AG09309	skin:	n/a
2	chr20:40631638-40631688	HRE	kidney:	n/a
3	chr20:40631638-40631688	HCT-116	colon:	n/a
4	chr20:40631638-40631688	K562	blood:	n/a
5	chr20:40631638-40631688	BE2_C	brain:	n/a
6	chr20:40631638-40631688	SK-N-SH	brain:	n/a
7	chr20:40631638-40631688	GM06990	blood:	n/a
8	chr20:40631638-40631688	NHBE	bronchial:	n/a
9	chr20:40631638-40631688	MCF-7	breast:	n/a
10	chr20:40631638-40631688	CMK	blood:	n/a
11	chr20:40631638-40631688	GM12891	blood:	n/a
12	chr20:40631638-40631688	HUVEC	blood vessel:	n/a
13	chr20:40631638-40631688	GM12878	blood:	n/a
14	chr20:40631638-40631688	BJ	skin:	n/a
15	chr20:40631638-40631688	HL-60	blood:	n/a
16	chr20:40631638-40631688	NT2-D1	testis:	n/a
17	chr20:40631638-40631688	HAEpiC	amniotic membrane:	n/a
18	chr20:40631638-40631688	Hepatocyte	liver:	n/a
19	chr20:40631638-40631688	U87	brain:	n/a
20	chr20:40631638-40631688	LNCaP	prostate:	n/a
21	chr20:40631638-40631688	SKMC	muscle:	n/a
22	chr20:40631638-40631688	PANC-1	pancreas:	n/a
23	chr20:40631638-40631688	IMR90	lung:	fetal
24	chr20:40631638-40631688	T-47D	breast:	n/a
25	chr20:40631638-40631688	NH-A	brain:	n/a
26	chr20:40631638-40631688	H1-hESC	embryonic stem cell:	embryo
27	chr20:40631638-40631688	PFSK-1	brain:	n/a
28	chr20:40631638-40631688	HIPEpiC	eye:	n/a
29	chr20:40631638-40631688	HepG2	liver:	n/a
30	chr20:40631638-40631688	HEK293	kidney:	embryo
31	chr20:40631638-40631688	HCM	heart:	n/a
32	chr20:40631638-40631688	PrEC	prostate:	n/a
33	chr20:40631638-40631688	HNPCEpiC	eye:	n/a
34	chr20:40631638-40631688	A549	lung:	n/a
35	chr20:40631638-40631688	SK-N-MC	brain:	n/a
36	chr20:40631638-40631688	AG10803	skin:	n/a
37	chr20:40631638-40631688	HEEpiC	esophagus:	n/a
38	chr20:40631638-40631688	Jurkat	blood:	n/a
39	chr20:40631638-40631688	SK-N-SH_RA	brain:	n/a
40	chr20:40631638-40631688	GM19239	blood:	n/a
41	chr20:40631638-40631688	NB4	blood:	n/a
42	chr20:40631638-40631688	HCF	heart:	n/a
43	chr20:40631638-40631688	HPAEpiC	pulmonary alveolar:	n/a
44	chr20:40631638-40631688	ECC-1	luminal epithelium:	n/a
45	chr20:40631638-40631688	NHDF-neo	bronchial:	n/a
46	chr20:40631638-40631688	Hela-S3	cervix:	n/a
47	chr20:40631638-40631688	HRCEpiC	kidney:	n/a
48	chr20:40631638-40631688	Caco-2	colon:	n/a
49	chr20:40631638-40631688	RPTEC	kidney:	n/a
50	chr20:40631638-40631688	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000223651	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs6093550	0.89[ASN][1000 genomes]
rs6093551	0.88[ASN][1000 genomes]
rs6129989	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6129992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6129993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6130001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73616973	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3381	chr20:39925326-40765696	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv912873	chr20:40601021-40675704	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40625400-40631800	Weak transcription	Right Atrium	heart

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