Variant report

Variant	rs34234198
Chromosome Location	chr19:51698071-51698072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr19:51697955-51698385	GM12891	blood:	n/a	n/a
2	PAX5	chr19:51697843-51698341	GM12878	blood:	n/a	n/a
3	ESRRA	chr19:51697566-51698957	GM12878	blood:	n/a	chr19:51698581-51698595 chr19:51698580-51698596
4	IRF4	chr19:51697890-51698329	GM12878	blood:	n/a	n/a
5	CTCF	chr19:51698059-51698201	GM12891	blood:	n/a	n/a
6	PAX5	chr19:51697783-51698422	GM12878	blood:	n/a	n/a
7	PAX5	chr19:51697830-51698338	GM12878	blood:	n/a	n/a
8	SP1	chr19:51697918-51698313	GM12878	blood:	n/a	n/a
9	BCL11A	chr19:51697879-51698354	GM12878	blood:	n/a	n/a
10	NRF1	chr19:51698068-51698145	GM12878	blood:	n/a	n/a
11	CTCF	chr19:51698040-51698190	NB4	blood:	n/a	n/a
12	BHLHE40	chr19:51697855-51698311	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:51697874-51698245	K562	blood:	n/a	n/a
14	JUND	chr19:51697983-51698226	K562	blood:	n/a	n/a
15	BCL3	chr19:51697833-51698172	GM12878	blood:	n/a	n/a
16	CTCF	chr19:51698069-51698313	K562	blood:	n/a	n/a
17	CTCF	chr19:51698070-51698254	MCF-7	breast:	n/a	n/a
18	MYC	chr19:51698030-51698110	GM12878	blood:	n/a	n/a
19	BHLHE40	chr19:51697846-51698151	K562	blood:	n/a	n/a
20	TCF12	chr19:51697895-51698222	GM12878	blood:	n/a	n/a
21	TCF12	chr19:51697943-51698214	GM12878	blood:	n/a	n/a
22	MYC	chr19:51697988-51698205	K562	blood:	n/a	n/a
23	POU2F2	chr19:51697900-51698347	GM12891	blood:	n/a	n/a
24	BCL11A	chr19:51697962-51698208	GM12878	blood:	n/a	n/a
25	POU2F2	chr19:51697870-51698467	GM12878	blood:	n/a	n/a
26	TCF3	chr19:51697936-51698291	GM12878	blood:	n/a	n/a
27	FOS	chr19:51698052-51698171	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr19:51698055-51698126	GM12878	blood:	n/a	n/a
29	PAX5	chr19:51697956-51698221	GM12878	blood:	n/a	n/a
30	PBX3	chr19:51697928-51698133	GM12878	blood:	n/a	n/a
31	CTCF	chr19:51698065-51698270	GM19238	blood:	n/a	n/a
32	CTCF	chr19:51698034-51698272	GM12892	blood:	n/a	n/a
33	BATF	chr19:51697895-51698351	GM12878	blood:	n/a	n/a
34	CTCF	chr19:51698069-51698265	K562	blood:	n/a	n/a
35	MYC	chr19:51698010-51698162	MCF-7	breast:	n/a	n/a
36	PBX3	chr19:51697956-51698133	GM12878	blood:	n/a	n/a
37	EGR1	chr19:51697889-51698153	K562	blood:	n/a	n/a
38	IRF4	chr19:51697858-51698371	GM12878	blood:	n/a	n/a
39	EGR1	chr19:51697897-51698232	K562	blood:	n/a	n/a
40	CTCF	chr19:51698058-51698416	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51686150..51688287-chr19:51697466..51699885,2	K562	blood:

No data

Variant related genes	Relation type
SIGLEC21P	TF binding region
ENSG00000268336	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10404545	1.00[EUR][1000 genomes]
rs11667291	1.00[ASN][1000 genomes]
rs1566577	1.00[ASN][1000 genomes]
rs1568004	1.00[ASN][1000 genomes]
rs1878045	1.00[EUR][1000 genomes]
rs1878046	1.00[EUR][1000 genomes]
rs28629968	1.00[EUR][1000 genomes]
rs28662217	0.90[EUR][1000 genomes]
rs34676217	1.00[ASN][1000 genomes]
rs34980236	1.00[ASN][1000 genomes]
rs57285255	1.00[EUR][1000 genomes]
rs7245556	1.00[ASN][1000 genomes]
rs7252160	1.00[EUR][1000 genomes]
rs7252364	1.00[EUR][1000 genomes]
rs7252722	1.00[EUR][1000 genomes]
rs7252750	1.00[EUR][1000 genomes]
rs73610293	1.00[EUR][1000 genomes]
rs73932855	0.89[EUR][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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51696200-51702000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:51696400-51705400	Weak transcription	Right Atrium	heart
3	chr19:51697200-51698400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr19:51697400-51698400	Enhancers	NHEK	skin
5	chr19:51697600-51698200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:51697600-51698400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr19:51697600-51699000	Enhancers	K562	blood
8	chr19:51697800-51698200	Flanking Bivalent TSS/Enh	A549	lung
9	chr19:51697800-51698800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:51698000-51698200	Active TSS	GM12878-XiMat	blood

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