Variant report

Variant	rs7246851
Chromosome Location	chr19:39785877-39785878
allele	C/T
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:2)
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	chr19:39785864-39785914	H1-hESC	embryonic stem cell:	embryo
2	chr19:39785864-39785914	AG04450	lung:	fetal
3	chr19:39785864-39785914	HIPEpiC	eye:	n/a
4	chr19:39785864-39785914	T-47D	breast:	n/a
5	chr19:39785864-39785914	PANC-1	pancreas:	n/a
6	chr19:39785864-39785914	Jurkat	blood:	n/a
7	chr19:39785864-39785914	GM19239	blood:	n/a
8	chr19:39785864-39785914	NH-A	brain:	n/a
9	chr19:39785864-39785914	MCF-7	breast:	n/a
10	chr19:39785864-39785914	SK-N-SH_RA	brain:	n/a
11	chr19:39785864-39785914	RPTEC	kidney:	n/a
12	chr19:39785864-39785914	GM12892	blood:	n/a
13	chr19:39785864-39785914	HAEpiC	amniotic membrane:	n/a
14	chr19:39785864-39785914	GM06990	blood:	n/a
15	chr19:39785864-39785914	Caco-2	colon:	n/a
16	chr19:39785864-39785914	NT2-D1	testis:	n/a
17	chr19:39785864-39785914	NHBE	bronchial:	n/a
18	chr19:39785864-39785914	HCF	heart:	n/a
19	chr19:39785864-39785914	Hepatocyte	liver:	n/a
20	chr19:39785864-39785914	HMEC	breast:	n/a
21	chr19:39785864-39785914	AG10803	skin:	n/a
22	chr19:39785864-39785914	HCT-116	colon:	n/a
23	chr19:39785864-39785914	HRCEpiC	kidney:	n/a
24	chr19:39785864-39785914	HL-60	blood:	n/a
25	chr19:39785864-39785914	SK-N-MC	brain:	n/a
26	chr19:39785864-39785914	ovcar-3	ovarian:	n/a
27	chr19:39785864-39785914	ProgFib	skin:	n/a
28	chr19:39785864-39785914	HepG2	liver:	n/a
29	chr19:39785864-39785914	SK-N-SH	brain:	n/a
30	chr19:39785864-39785914	IMR90	lung:	fetal
31	chr19:39785864-39785914	BE2_C	brain:	n/a
32	chr19:39785864-39785914	AG09319	gingival:	n/a
33	chr19:39785864-39785914	HCM	heart:	n/a
34	chr19:39785864-39785914	HNPCEpiC	eye:	n/a
35	chr19:39785864-39785914	AG09309	skin:	n/a
36	chr19:39785864-39785914	MCF10A-Er-Src	breast:	n/a
37	chr19:39785864-39785914	SAEC	small airway:	n/a
38	chr19:39785864-39785914	NB4	blood:	n/a
39	chr19:39785864-39785914	HEEpiC	esophagus:	n/a
40	chr19:39785864-39785914	LNCaP	prostate:	n/a
41	chr19:39785864-39785914	HCPEpiC	choroid plexus:	n/a
42	chr19:39785864-39785914	HRE	kidney:	n/a
43	chr19:39785864-39785914	PrEC	prostate:	n/a
44	chr19:39785864-39785914	Hela-S3	cervix:	n/a
45	chr19:39785864-39785914	GM12891	blood:	n/a
46	chr19:39785864-39785914	A549	lung:	n/a
47	chr19:39785864-39785914	HUVEC	blood vessel:	n/a
48	chr19:39785864-39785914	AoSMC	blood vessel:	n/a
49	chr19:39785864-39785914	AG04449	skin:	fetal
50	chr19:39785864-39785914	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39784841..39787662-chr19:39900971..39903770,2	K562	blood:
2	chr19:39784777..39786664-chr19:39806651..39809064,2	MCF-7	breast:

No data

Variant related genes	Relation type
IFNL1	CpG island
ENSG00000090924	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs60885838	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61379670	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62122865	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62122866	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62122870	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62122882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62122883	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62122885	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247086	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247097	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247361	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7251314	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7252375	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7254949	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73544058	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73544059	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73544060	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73544063	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73544065	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73930706	0.92[ASN][1000 genomes]
rs8107455	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs8107861	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs8108057	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs8108392	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]

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	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
4	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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