Variant report

Variant	rs12461707
Chromosome Location	chr19:37063347-37063348
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr19:37062897-37065086	K562	blood:	n/a	chr19:37064515-37064524 chr19:37063533-37063540
2	HCFC1	chr19:37063159-37065363	Hela-S3	cervix:	n/a	n/a
3	MYC	chr19:37063257-37064543	A549	lung:	n/a	n/a
4	SIN3A	chr19:37063325-37065413	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZC3H11A	chr19:37063291-37064403	K562	blood:	n/a	n/a
6	MXI1	chr19:37062890-37065821	SK-N-SH	brain:	n/a	n/a
7	ZNF263	chr19:37063335-37064446	HEK293-T-REx	kidney:	n/a	chr19:37063429-37063438
8	GATA1	chr19:37063268-37064303	PBDE	blood:	n/a	n/a
9	MXI1	chr19:37062659-37065381	IMR90	lung:	n/a	n/a
10	JUND	chr19:37063304-37065162	K562	blood:	n/a	chr19:37064515-37064524 chr19:37063533-37063540
11	CUX1	chr19:37063286-37063362	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:37063211-37065277	Hela-S3	cervix:	n/a	n/a
13	MAZ	chr19:37063304-37064918	K562	blood:	n/a	chr19:37064538-37064548
14	WRNIP1	chr19:37063293-37063531	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36979193..36981748-chr19:37061672..37065426,4	K562	blood:
2	chr19:37047289..37050700-chr19:37061573..37063531,3	K562	blood:
3	chr19:37053248..37055445-chr19:37061969..37063522,2	K562	blood:
4	chr19:37019103..37021335-chr19:37062459..37064743,4	K562	blood:
5	chr19:37063014..37065659-chr19:37066533..37068326,2	MCF-7	breast:
6	chr19:37038594..37041681-chr19:37063019..37065867,3	K562	blood:
7	chr19:37062757..37066475-chr19:37067178..37075829,11	K562	blood:
8	chr19:37062757..37067111-chr19:37067178..37071986,8	K562	blood:
9	chr19:36940091..36943076-chr19:37061156..37065481,3	K562	blood:
10	chr19:37062686..37064573-chr19:37176993..37178796,2	MCF-7	breast:
11	chr19:37018711..37023188-chr19:37060299..37065354,5	K562	blood:
12	chr19:37037541..37041127-chr19:37063019..37065545,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233527	TF binding region
ENSG00000225975	Chromatin interaction
ENSG00000189042	Chromatin interaction
ENSG00000254004	Chromatin interaction
ENSG00000233527	Chromatin interaction
ENSG00000186020	Chromatin interaction
ENSG00000186017	Chromatin interaction
ENSG00000267309	Chromatin interaction
ENSG00000228629	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10408063	1.00[ASN][1000 genomes]
rs10410939	1.00[ASN][1000 genomes]
rs10411150	0.90[ASN][1000 genomes]
rs10413876	1.00[ASN][1000 genomes]
rs10414240	1.00[ASN][1000 genomes]
rs10418271	1.00[ASN][1000 genomes]
rs11880022	1.00[ASN][1000 genomes]
rs11880159	1.00[ASN][1000 genomes]
rs12459208	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12459218	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12459243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12459325	1.00[ASN][1000 genomes]
rs12459429	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12459527	1.00[ASN][1000 genomes]
rs12459808	1.00[ASN][1000 genomes]
rs12459915	1.00[ASN][1000 genomes]
rs12459923	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460354	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460418	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12460420	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12460430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460455	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460482	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460774	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461023	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461264	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461265	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12461280	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12461436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461738	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12461954	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462037	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12462268	1.00[ASN][1000 genomes]
rs12462281	1.00[ASN][1000 genomes]
rs12462325	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462454	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12462471	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12462635	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12974130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12974446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1625762	1.00[ASN][1000 genomes]
rs1673083	1.00[ASN][1000 genomes]
rs16971568	1.00[ASN][1000 genomes]
rs16973489	1.00[ASN][1000 genomes]
rs17468285	1.00[ASN][1000 genomes]
rs25419	1.00[ASN][1000 genomes]
rs28398875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28465595	1.00[ASN][1000 genomes]
rs28472526	1.00[ASN][1000 genomes]
rs28645577	1.00[ASN][1000 genomes]
rs28742010	1.00[ASN][1000 genomes]
rs28818888	1.00[ASN][1000 genomes]
rs34051375	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34106502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35621405	1.00[ASN][1000 genomes]
rs35706444	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58245911	1.00[ASN][1000 genomes]
rs60268308	1.00[ASN][1000 genomes]
rs60615280	1.00[ASN][1000 genomes]
rs61750934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6510562	1.00[ASN][1000 genomes]
rs73609133	1.00[ASN][1000 genomes]
rs73612031	1.00[ASN][1000 genomes]
rs73612043	1.00[ASN][1000 genomes]
rs73615692	1.00[ASN][1000 genomes]
rs73615693	0.90[ASN][1000 genomes]
rs7508258	1.00[ASN][1000 genomes]
rs8104355	0.90[ASN][1000 genomes]
rs8111419	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	esv3334779	chr19:37050161-37076919	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37054200-37063800	Weak transcription	Gastric	stomach
2	chr19:37054400-37063800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:37056000-37063400	ZNF genes & repeats	A549	lung
4	chr19:37060800-37063400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:37061200-37063400	Weak transcription	Left Ventricle	heart
6	chr19:37061400-37063400	Weak transcription	Aorta	Aorta
7	chr19:37061400-37063400	Weak transcription	Ovary	ovary
8	chr19:37061600-37063400	Weak transcription	Lung	lung
9	chr19:37061600-37063800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:37062600-37063400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr19:37062600-37063400	Enhancers	Esophagus	oesophagus
12	chr19:37062600-37065400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr19:37062800-37063400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:37062800-37063400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr19:37062800-37063400	Flanking Active TSS	HepG2	liver
16	chr19:37062800-37063600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:37062800-37063600	Flanking Active TSS	Fetal Heart	heart
18	chr19:37062800-37063800	Flanking Active TSS	Dnd41	blood
19	chr19:37062800-37064800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:37062800-37065000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:37062800-37065600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:37062800-37065600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr19:37062800-37065600	Active TSS	Colonic Mucosa	Colon
24	chr19:37062800-37065800	Active TSS	HMEC	breast
25	chr19:37062800-37066000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr19:37062800-37066000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr19:37063000-37063400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr19:37063000-37063400	Enhancers	Primary B cells from cord blood	blood
29	chr19:37063000-37063400	Enhancers	Primary B cells from peripheral blood	blood
30	chr19:37063000-37063400	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr19:37063000-37063400	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr19:37063000-37063400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr19:37063000-37063400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:37063000-37063400	Flanking Active TSS	NH-A	brain
35	chr19:37063000-37063400	Flanking Active TSS	Osteobl	bone
36	chr19:37063000-37063600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr19:37063000-37063600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr19:37063000-37063600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr19:37063000-37063600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:37063000-37063600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr19:37063000-37063600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:37063000-37063600	Flanking Active TSS	Liver	Liver
43	chr19:37063000-37063600	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr19:37063000-37063600	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr19:37063000-37063600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr19:37063000-37063600	Flanking Active TSS	Fetal Brain Female	brain
47	chr19:37063000-37063600	Flanking Active TSS	Hela-S3	cervix
48	chr19:37063000-37063600	Flanking Active TSS	K562	blood
49	chr19:37063000-37063600	Flanking Active TSS	NHEK	skin
50	chr19:37063000-37063800	Flanking Active TSS	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links