Variant report

Variant	rs8182619
Chromosome Location	chr19:42150825-42150826
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:42150720-42150870	HAc	cerebellar:	n/a	n/a
2	CTCF	chr19:42150680-42150830	NB4	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
3	CTCF	chr19:42150569-42150877	K562	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
4	CTCF	chr19:42150820-42150970	GM12870	blood:	n/a	n/a
5	CTCF	chr19:42150720-42150870	HRPEpiC	eye:	n/a	n/a
6	CTCF	chr19:42150680-42150830	RPTEC	kidney:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
7	CTCF	chr19:42150550-42150875	K562	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
8	CTCF	chr19:42150574-42150855	H1-hESC	embryonic stem cell:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
9	CTCF	chr19:42150535-42150870	A549	lung:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
10	MAX	chr19:42150491-42150932	MCF-7	breast:	n/a	chr19:42150686-42150693
11	MAX	chr19:42150513-42150880	K562	blood:	n/a	chr19:42150686-42150693
12	CTCF	chr19:42150555-42150949	K562	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
13	CTCF	chr19:42150539-42150863	A549	lung:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
14	CTCF	chr19:42150680-42150830	Caco-2	colon:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
15	CTCF	chr19:42150473-42151038	HCT-116	colon:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
16	CTCF	chr19:42150800-42150950	GM12875	blood:	n/a	n/a
17	CTCF	chr19:42150569-42150889	K562	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
18	MAX	chr19:42150470-42150832	HCT-116	colon:	n/a	chr19:42150686-42150693
19	CTCF	chr19:42150800-42150950	GM12864	blood:	n/a	n/a
20	CTCF	chr19:42150680-42150830	HAc	cerebellar:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
21	CTCF	chr19:42150332-42151204	A549	lung:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
22	MAX	chr19:42150602-42150841	K562	blood:	n/a	chr19:42150686-42150693
23	CTCF	chr19:42150443-42150915	A549	lung:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
24	CTCF	chr19:42150680-42150830	HA-sp	spinal cord:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
25	CTCF	chr19:42150552-42150848	GM12878	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
26	CTCF	chr19:42150447-42150885	MCF-7	breast:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715

Variant related genes	Relation type
ENSG00000269354	TF binding region

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1001062	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1001578	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10520341	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11083633	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11083635	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11671944	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11672173	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11672853	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880469	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880615	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11880655	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12462395	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12979028	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34652740	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3909374	0.89[EUR][1000 genomes]
rs4347734	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803492	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8182595	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8182615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917552	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057624	chr19:42057334-42152828	Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1058847	chr19:42057334-42172442	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1063241	chr19:42057334-42175160	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv519408	chr19:42066279-42171906	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3422975	chr19:42106166-42212774	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 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	chr19:42146200-42152600	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links