Variant report

Variant	rs10848534
Chromosome Location	chr12:1726058-1726059
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr12:1725398-1726122	GM12878	blood:	n/a	n/a
2	MTA3	chr12:1725569-1726199	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1726033-1726083	NHDF-neo	bronchial:	n/a
2	chr12:1726028-1726078	AG10803	skin:	n/a
3	chr12:1726028-1726078	ovcar-3	ovarian:	n/a
4	chr12:1726033-1726083	ovcar-3	ovarian:	n/a
5	chr12:1726028-1726078	MCF-7	breast:	n/a
6	chr12:1726033-1726083	GM19239	blood:	n/a
7	chr12:1726028-1726078	HEK293	kidney:	embryo
8	chr12:1726033-1726083	AoSMC	blood vessel:	n/a
9	chr12:1726028-1726078	GM12878	blood:	n/a
10	chr12:1726033-1726083	SK-N-MC	brain:	n/a
11	chr12:1726028-1726078	HCT-116	colon:	n/a
12	chr12:1726028-1726078	AG09319	gingival:	n/a
13	chr12:1726028-1726078	A549	lung:	n/a
14	chr12:1726028-1726078	HEEpiC	esophagus:	n/a
15	chr12:1726028-1726078	HepG2	liver:	n/a
16	chr12:1726033-1726083	HCPEpiC	choroid plexus:	n/a
17	chr12:1726028-1726078	AG09309	skin:	n/a
18	chr12:1726028-1726078	HCM	heart:	n/a
19	chr12:1726033-1726083	HepG2	liver:	n/a
20	chr12:1726033-1726083	SAEC	small airway:	n/a
21	chr12:1726033-1726083	HEK293	kidney:	embryo
22	chr12:1726028-1726078	BJ	skin:	n/a
23	chr12:1726033-1726083	GM12892	blood:	n/a
24	chr12:1726033-1726083	SK-N-SH	brain:	n/a
25	chr12:1726028-1726078	GM12892	blood:	n/a
26	chr12:1726028-1726078	SK-N-SH	brain:	n/a
27	chr12:1726033-1726083	NB4	blood:	n/a
28	chr12:1726028-1726078	AoSMC	blood vessel:	n/a
29	chr12:1726028-1726078	HIPEpiC	eye:	n/a
30	chr12:1726033-1726083	SKMC	muscle:	n/a
31	chr12:1726033-1726083	K562	blood:	n/a
32	chr12:1726033-1726083	HRCEpiC	kidney:	n/a
33	chr12:1726028-1726078	AG04450	lung:	fetal
34	chr12:1726033-1726083	HMEC	breast:	n/a
35	chr12:1726033-1726083	Hepatocyte	liver:	n/a
36	chr12:1726033-1726083	BE2_C	brain:	n/a
37	chr12:1726028-1726078	HCF	heart:	n/a
38	chr12:1726028-1726078	SK-N-SH_RA	brain:	n/a
39	chr12:1726033-1726083	MCF-7	breast:	n/a
40	chr12:1726028-1726078	HRPEpiC	eye:	n/a
41	chr12:1726033-1726083	AG10803	skin:	n/a
42	chr12:1726033-1726083	PrEC	prostate:	n/a
43	chr12:1726028-1726078	U87	brain:	n/a
44	chr12:1726028-1726078	HMEC	breast:	n/a
45	chr12:1726033-1726083	HCF	heart:	n/a
46	chr12:1726028-1726078	HUVEC	blood vessel:	n/a
47	chr12:1726033-1726083	HCT-116	colon:	n/a
48	chr12:1726028-1726078	PFSK-1	brain:	n/a
49	chr12:1726028-1726078	SAEC	small airway:	n/a
50	chr12:1726033-1726083	AG09309	skin:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADIPOR2-3	chr12:1725826-1726309	NONHSAT025406

No data

Variant related genes	Relation type
WNT5B	TF binding region
WNT5B	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11061875	1.00[EUR][1000 genomes]
rs11503087	1.00[EUR][1000 genomes]
rs11836960	1.00[EUR][1000 genomes]
rs11838210	1.00[EUR][1000 genomes]
rs12311264	1.00[EUR][1000 genomes]
rs13377750	1.00[EUR][1000 genomes]
rs58275451	1.00[EUR][1000 genomes]
rs7306444	1.00[EUR][1000 genomes]
rs7312449	1.00[EUR][1000 genomes]
rs73605897	1.00[EUR][1000 genomes]
rs73605900	1.00[EUR][1000 genomes]
rs73607803	1.00[EUR][1000 genomes]
rs73607820	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv1834423	chr12:1703324-1727170	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1715400-1738600	Weak transcription	Right Atrium	heart
2	chr12:1716200-1734600	Weak transcription	Fetal Stomach	stomach
3	chr12:1717000-1728800	Weak transcription	Lung	lung
4	chr12:1719600-1728000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:1720200-1727200	Weak transcription	Fetal Intestine Small	intestine
6	chr12:1720200-1727200	Weak transcription	Stomach Mucosa	stomach
7	chr12:1721000-1734400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:1721600-1727400	Weak transcription	Adipose Nuclei	Adipose
9	chr12:1721800-1727200	Weak transcription	NHLF	lung
10	chr12:1721800-1727800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:1721800-1734600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:1721800-1738600	Weak transcription	Fetal Brain Female	brain
13	chr12:1722200-1727400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:1722200-1727400	Weak transcription	Osteobl	bone
15	chr12:1722200-1727600	Weak transcription	NH-A	brain
16	chr12:1723000-1727600	Enhancers	K562	blood
17	chr12:1724000-1727000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:1724000-1727400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:1724000-1731600	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:1724000-1737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:1724400-1727600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:1724400-1727600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:1724800-1726400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:1724800-1727000	Enhancers	HMEC	breast
25	chr12:1724800-1727800	Weak transcription	NHDF-Ad	bronchial
26	chr12:1724800-1734200	Weak transcription	HSMM	muscle
27	chr12:1725000-1729600	Enhancers	Primary hematopoietic stem cells	blood
28	chr12:1725200-1726200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:1725200-1726200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:1725200-1726400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr12:1725200-1727400	Enhancers	Fetal Thymus	thymus
32	chr12:1725200-1729200	Enhancers	Primary B cells from peripheral blood	blood
33	chr12:1725600-1726200	Enhancers	Thymus	Thymus
34	chr12:1725600-1726200	Flanking Bivalent TSS/Enh	NHEK	skin
35	chr12:1725600-1726400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr12:1725600-1726400	Enhancers	Primary T cells from cord blood	blood
37	chr12:1725600-1726400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:1725800-1726200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:1725800-1726200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:1725800-1726200	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr12:1725800-1726200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr12:1725800-1726200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:1725800-1726200	Active TSS	Esophagus	oesophagus
44	chr12:1725800-1726200	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr12:1725800-1726400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
46	chr12:1725800-1726400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr12:1725800-1726400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr12:1725800-1735200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:1726000-1726200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:1726000-1726200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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