Variant report

Variant	rs7258592
Chromosome Location	chr19:54332311-54332312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr19:54332286-54332492	K562	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	19:54331773-54346301..19:54664754-54667583	Hela-S3	cervix:
2	19:54331773-54346301..19:54667671-54677284	Hela-S3	cervix:
3	19:54331773-54346301..19:54882151-54893239	Hela-S3	cervix:
4	19:54331773-54346301..19:54647787-54653912	Hela-S3	cervix:
5	19:54331773-54346301..19:55010971-55030075	K562	blood:
6	19:54331773-54346301..19:54471705-54498373	GM12878	blood:
7	19:54331773-54346301..19:54663039-54664754	K562	blood:
8	19:54331773-54346301..19:54600850-54620705	GM12878	blood:
9	19:54331773-54346301..19:54361186-54373774	Hela-S3	cervix:
10	19:54331773-54346301..19:54964441-54971082	Hela-S3	cervix:
11	19:54331773-54346301..19:54620705-54622004	Hela-S3	cervix:
12	19:54331773-54346301..19:54463218-54469094	H1-hESC	embryonic stem cell:	embryo
13	19:54331773-54346301..19:54703388-54706734	Hela-S3	cervix:
14	19:54331773-54346301..19:54935996-54949475	Hela-S3	cervix:
15	19:54331773-54346301..19:54643159-54647787	Hela-S3	cervix:
16	19:54331773-54346301..19:54772822-54786052	GM12878	blood:
17	19:54331773-54346301..19:54552819-54563729	K562	blood:
18	19:54331773-54346301..19:54622004-54643159	Hela-S3	cervix:
19	19:54331773-54346301..19:54837886-54859497	K562	blood:
20	19:54331773-54346301..19:54738658-54764091	GM12878	blood:
21	19:54331773-54346301..19:54677284-54691409	Hela-S3	cervix:

No data

Variant related genes	Relation type
NLRP12	TF binding region
ENSG00000105609	Chromatin interaction
ENSG00000250507	Chromatin interaction
ENSG00000215998	Chromatin interaction
ENSG00000268496	Chromatin interaction
ENSG00000249189	Chromatin interaction
ENSG00000237017	Chromatin interaction
ENSG00000167614	Chromatin interaction
ENSG00000232324	Chromatin interaction
ENSG00000189068	Chromatin interaction
ENSG00000268164	Chromatin interaction
ENSG00000223660	Chromatin interaction
ENSG00000088038	Chromatin interaction
ENSG00000142408	Chromatin interaction
ENSG00000131042	Chromatin interaction
ENSG00000228323	Chromatin interaction
ENSG00000130433	Chromatin interaction
ENSG00000170909	Chromatin interaction
ENSG00000248166	Chromatin interaction
ENSG00000167615	Chromatin interaction
ENSG00000105617	Chromatin interaction
ENSG00000244482	Chromatin interaction
ENSG00000239961	Chromatin interaction
ENSG00000170889	Chromatin interaction
ENSG00000167618	Chromatin interaction
ENSG00000170906	Chromatin interaction
ENSG00000167608	Chromatin interaction
ENSG00000179820	Chromatin interaction
ENSG00000105619	Chromatin interaction
ENSG00000105618	Chromatin interaction
ENSG00000237955	Chromatin interaction
ENSG00000167613	Chromatin interaction
ENSG00000125505	Chromatin interaction
ENSG00000227407	Chromatin interaction
ENSG00000264703	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11671984	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4539722	0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs4806513	0.93[ASN][1000 genomes]
rs4806514	0.93[ASN][1000 genomes]
rs7257867	0.90[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
2	nsv1061889	chr19:54024352-54340923	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	221 gene(s)	inside rSNPs	diseases
3	nsv531307	chr19:54056296-54402720	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	244 gene(s)	inside rSNPs	diseases
4	nsv1064208	chr19:54103646-54528887	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	309 gene(s)	inside rSNPs	diseases
5	nsv1058096	chr19:54164595-54374895	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	236 gene(s)	inside rSNPs	diseases
6	nsv1065337	chr19:54213042-54391859	Active TSS Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	202 gene(s)	inside rSNPs	diseases
7	nsv1064317	chr19:54238294-54465245	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	183 gene(s)	inside rSNPs	diseases
8	nsv544073	chr19:54238294-54465245	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	183 gene(s)	inside rSNPs	diseases
9	esv2753726	chr19:54256988-55204403	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	325 gene(s)	inside rSNPs	diseases
10	nsv1064558	chr19:54276722-54460745	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	153 gene(s)	inside rSNPs	diseases
11	nsv912388	chr19:54294482-54367597	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv544074	chr19:54325041-54366732	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:54327600-54332800	Weak transcription	Spleen	Spleen
2	chr19:54327600-54333000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:54327600-54334000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:54327600-54335000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:54327800-54333400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:54327800-54333400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:54327800-54334800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr19:54328600-54332400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr19:54329800-54334200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:54330200-54332400	Weak transcription	Fetal Muscle Leg	muscle
11	chr19:54330200-54333400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:54331800-54332400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr19:54331800-54332800	Enhancers	Primary B cells from cord blood	blood
14	chr19:54332000-54332400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr19:54332000-54332400	Enhancers	HUVEC	blood vessel
16	chr19:54332000-54334000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr19:54332000-54334400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr19:54332200-54332600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr19:54332200-54334000	Enhancers	Primary hematopoietic stem cells	blood
20	chr19:54332200-54334200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:54332200-54334400	Enhancers	H9 Cell Line	embryonic stem cell

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