Variant report

Variant	rs10418046
Chromosome Location	chr19:54327869-54327870
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr19:54327767-54327877	K562	blood:	n/a	n/a
2	SPI1	chr19:54327406-54328021	HL-60	blood:	n/a	chr19:54327664-54327677 chr19:54327663-54327676 chr19:54327666-54327675 chr19:54327667-54327674
3	POLR2A	chr19:54327259-54327902	HL-60	blood:	n/a	n/a
4	SPI1	chr19:54327550-54327982	HL-60	blood:	n/a	chr19:54327664-54327677 chr19:54327663-54327676 chr19:54327666-54327675 chr19:54327667-54327674

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:54327847-54327897	HCPEpiC	choroid plexus:	n/a
2	chr19:54327847-54327897	SK-N-SH	brain:	n/a
3	chr19:54327847-54327897	PFSK-1	brain:	n/a
4	chr19:54327847-54327897	IMR90	lung:	fetal
5	chr19:54327847-54327897	AG04450	lung:	fetal
6	chr19:54327847-54327897	AoSMC	blood vessel:	n/a
7	chr19:54327847-54327897	U87	brain:	n/a
8	chr19:54327847-54327897	PrEC	prostate:	n/a
9	chr19:54327847-54327897	HPAEpiC	pulmonary alveolar:	n/a
10	chr19:54327847-54327897	T-47D	breast:	n/a
11	chr19:54327847-54327897	AG04449	skin:	fetal
12	chr19:54327847-54327897	A549	lung:	n/a
13	chr19:54327847-54327897	SKMC	muscle:	n/a
14	chr19:54327847-54327897	PANC-1	pancreas:	n/a
15	chr19:54327847-54327897	ECC-1	luminal epithelium:	n/a
16	chr19:54327847-54327897	NH-A	brain:	n/a
17	chr19:54327847-54327897	Caco-2	colon:	n/a
18	chr19:54327847-54327897	BJ	skin:	n/a
19	chr19:54327847-54327897	HRCEpiC	kidney:	n/a
20	chr19:54327847-54327897	GM12878	blood:	n/a
21	chr19:54327847-54327897	AG09309	skin:	n/a
22	chr19:54327847-54327897	Hepatocyte	liver:	n/a
23	chr19:54327847-54327897	HNPCEpiC	eye:	n/a
24	chr19:54327847-54327897	HepG2	liver:	n/a
25	chr19:54327847-54327897	HL-60	blood:	n/a
26	chr19:54327847-54327897	H1-hESC	embryonic stem cell:	embryo
27	chr19:54327847-54327897	CMK	blood:	n/a
28	chr19:54327847-54327897	AG10803	skin:	n/a
29	chr19:54327847-54327897	HRE	kidney:	n/a
30	chr19:54327847-54327897	SK-N-SH_RA	brain:	n/a
31	chr19:54327847-54327897	HEEpiC	esophagus:	n/a
32	chr19:54327847-54327897	GM19239	blood:	n/a
33	chr19:54327847-54327897	GM06990	blood:	n/a
34	chr19:54327847-54327897	HCM	heart:	n/a
35	chr19:54327847-54327897	SK-N-MC	brain:	n/a
36	chr19:54327847-54327897	SAEC	small airway:	n/a
37	chr19:54327847-54327897	ovcar-3	ovarian:	n/a
38	chr19:54327847-54327897	LNCaP	prostate:	n/a
39	chr19:54327847-54327897	NHBE	bronchial:	n/a
40	chr19:54327847-54327897	NB4	blood:	n/a
41	chr19:54327847-54327897	K562	blood:	n/a
42	chr19:54327847-54327897	HMEC	breast:	n/a
43	chr19:54327847-54327897	HRPEpiC	eye:	n/a
44	chr19:54327847-54327897	ProgFib	skin:	n/a
45	chr19:54327847-54327897	NHDF-neo	bronchial:	n/a
46	chr19:54327847-54327897	RPTEC	kidney:	n/a
47	chr19:54327847-54327897	GM12891	blood:	n/a
48	chr19:54327847-54327897	HUVEC	blood vessel:	n/a
49	chr19:54327847-54327897	AG09319	gingival:	n/a
50	chr19:54327847-54327897	HEK293	kidney:	embryo

No data

Variant related genes	Relation type
NLRP12	TF binding region
NLRP12	CpG island

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10424405	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34436714	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4632248	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62143194	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62143196	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62143197	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62143198	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62143206	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv912387	chr19:54175037-54330232	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	176 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:54326800-54328600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr19:54327000-54328000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr19:54327000-54328400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:54327200-54328000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:54327400-54328000	Enhancers	Primary B cells from peripheral blood	blood
6	chr19:54327400-54328600	Enhancers	HepG2	liver
7	chr19:54327600-54332200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:54327600-54332800	Weak transcription	Spleen	Spleen
9	chr19:54327600-54333000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:54327600-54334000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:54327600-54335000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:54327800-54328000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:54327800-54328000	Weak transcription	Primary B cells from cord blood	blood
14	chr19:54327800-54328000	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr19:54327800-54328600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr19:54327800-54332000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:54327800-54332000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:54327800-54333400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr19:54327800-54333400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:54327800-54334800	Enhancers	Primary monocytes fromperipheralblood	blood

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