Variant report

Variant	rs2173880
Chromosome Location	chr19:51714223-51714224
allele	A/G
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	POLR2A	chr19:51713918-51714589	U87	brain:	n/a	n/a
2	GABPA	chr19:51714181-51714384	HepG2	liver:	n/a	n/a
3	ELF1	chr19:51714116-51714422	K562	blood:	n/a	n/a
4	POLR2A	chr19:51714027-51714539	Hela-S3	cervix:	n/a	n/a
5	PAX5	chr19:51714187-51714356	GM12878	blood:	n/a	n/a
6	HEY1	chr19:51714079-51714309	K562	blood:	n/a	n/a
7	POLR2A	chr19:51713972-51714620	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr19:51714023-51714513	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr19:51714165-51714393	GM12878	blood:	n/a	n/a
10	CBX3	chr19:51714056-51714443	K562	blood:	n/a	n/a
11	GABPA	chr19:51714097-51714432	Hela-S3	cervix:	n/a	n/a
12	GABPA	chr19:51714070-51714501	A549	lung:	n/a	n/a
13	E2F6	chr19:51714126-51714341	K562	blood:	n/a	n/a
14	GABPA	chr19:51713963-51714624	K562	blood:	n/a	n/a
15	HCFC1	chr19:51713721-51714600	Hela-S3	cervix:	n/a	n/a
16	ELF1	chr19:51714139-51714476	GM12878	blood:	n/a	n/a
17	GABPA	chr19:51714134-51714374	HepG2	liver:	n/a	n/a
18	BCLAF1	chr19:51714117-51714389	GM12878	blood:	n/a	n/a
19	GABPA	chr19:51714146-51714355	H1-hESC	embryonic stem cell:	n/a	n/a
20	HEY1	chr19:51713979-51714557	K562	blood:	n/a	n/a
21	GABPA	chr19:51714042-51714516	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr19:51714004-51714469	K562	blood:	n/a	n/a
23	POLR2A	chr19:51713974-51714623	GM12892	blood:	n/a	n/a
24	SPI1	chr19:51714211-51714567	HL-60	blood:	n/a	chr19:51714309-51714322 chr19:51714315-51714322
25	SPI1	chr19:51714152-51714367	K562	blood:	n/a	chr19:51714309-51714322 chr19:51714315-51714322
26	MAX	chr19:51714049-51714436	K562	blood:	n/a	n/a
27	POLR2A	chr19:51714048-51714402	U87	brain:	n/a	n/a
28	GABPA	chr19:51714081-51714530	K562	blood:	n/a	n/a
29	SPI1	chr19:51714107-51714469	GM12878	blood:	n/a	chr19:51714309-51714322 chr19:51714315-51714322
30	MAX	chr19:51714213-51714342	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr19:51714040-51714555	NB4	blood:	n/a	n/a
32	MAX	chr19:51714133-51714295	K562	blood:	n/a	n/a
33	GABPA	chr19:51714113-51714410	GM12878	blood:	n/a	n/a
34	ELF1	chr19:51714096-51714488	GM12878	blood:	n/a	n/a
35	RUNX3	chr19:51714163-51714395	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:51714081-51714473	PFSK-1	brain:	n/a	n/a
37	TAF1	chr19:51714099-51714444	Hela-S3	cervix:	n/a	n/a
38	GABPA	chr19:51714079-51714485	A549	lung:	n/a	n/a
39	MYC	chr19:51714173-51714374	NB4	blood:	n/a	n/a
40	MYC	chr19:51714143-51714316	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr19:51714067-51714349	U87	brain:	n/a	n/a
42	BHLHE40	chr19:51714151-51714347	K562	blood:	n/a	n/a
43	POLR2A	chr19:51713937-51714434	GM12878	blood:	n/a	n/a
44	MAX	chr19:51714082-51714404	K562	blood:	n/a	n/a
45	SPI1	chr19:51714110-51714431	K562	blood:	n/a	chr19:51714309-51714322 chr19:51714315-51714322
46	MYC	chr19:51714063-51714413	K562	blood:	n/a	n/a
47	POLR2A	chr19:51713907-51714589	U87	brain:	n/a	n/a

Variant related genes	Relation type
SIGLEC22P	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10423169	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878816	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12971624	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12972523	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12973135	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12980247	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566577	1.00[CEU][hapmap]
rs1568004	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2134073	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2173879	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34806626	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34990128	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826666	1.00[CHB][hapmap]
rs3896361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3987765	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4082664	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71358817	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252160	1.00[CHB][hapmap]
rs7252722	1.00[CHB][hapmap]
rs7252750	1.00[CHB][hapmap]
rs7257445	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73612233	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73612235	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73613991	1.00[ASN][1000 genomes]
rs8106173	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51704800-51715000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:51713400-51715400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:51713400-51715800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr19:51713600-51715600	Enhancers	Primary hematopoietic stem cells	blood
5	chr19:51713800-51714600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr19:51713800-51714800	Enhancers	Primary B cells from cord blood	blood
7	chr19:51714000-51714400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:51714000-51714400	Enhancers	GM12878-XiMat	blood
9	chr19:51714000-51715000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr19:51714000-51715400	Enhancers	Spleen	Spleen
11	chr19:51714200-51714600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:51714200-51715200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr19:51714200-51715200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr19:51714200-51715200	Active TSS	Hela-S3	cervix

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