Variant report

Variant	rs4765831
Chromosome Location	chr12:1721804-1721805
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:1720619-1722028	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1716647..1719370-chr12:1719904..1722064,2	MCF-7	breast:
2	chr12:1713181..1716889-chr12:1718186..1722611,7	K562	blood:

Variant related genes	Relation type
WNT5B	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2003510	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4765829	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4765830	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7314822	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7316135	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740355	0.80[EUR][1000 genomes];0.85[ASN][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1715200-1723600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:1715200-1725800	Weak transcription	Esophagus	oesophagus
3	chr12:1715400-1738600	Weak transcription	Right Atrium	heart
4	chr12:1716200-1734600	Weak transcription	Fetal Stomach	stomach
5	chr12:1717000-1728800	Weak transcription	Lung	lung
6	chr12:1717600-1723000	Weak transcription	K562	blood
7	chr12:1717800-1723600	Weak transcription	Primary B cells from cord blood	blood
8	chr12:1718200-1725200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:1718400-1722200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:1719600-1725600	Weak transcription	Thymus	Thymus
11	chr12:1719600-1728000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:1720000-1725600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:1720200-1727200	Weak transcription	Fetal Intestine Small	intestine
14	chr12:1720200-1727200	Weak transcription	Stomach Mucosa	stomach
15	chr12:1720600-1722000	Enhancers	Brain Germinal Matrix	brain
16	chr12:1720800-1722000	Enhancers	Fetal Brain Male	brain
17	chr12:1720800-1722200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:1720800-1725600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:1721000-1734400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:1721200-1722000	Enhancers	Fetal Heart	heart
21	chr12:1721200-1722200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:1721400-1722200	Enhancers	Brain Substantia Nigra	brain
23	chr12:1721600-1722000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:1721600-1722200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:1721600-1722200	Enhancers	HSMM	muscle
26	chr12:1721600-1722200	Enhancers	NH-A	brain
27	chr12:1721600-1722200	Enhancers	Osteobl	bone
28	chr12:1721600-1722400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:1721600-1723600	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:1721600-1723600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:1721600-1725200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:1721600-1727400	Weak transcription	Adipose Nuclei	Adipose
33	chr12:1721800-1722200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:1721800-1722200	Enhancers	NHDF-Ad	bronchial
35	chr12:1721800-1722400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:1721800-1722400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr12:1721800-1722400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr12:1721800-1722400	Enhancers	HSMMtube	muscle
39	chr12:1721800-1722600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:1721800-1722800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:1721800-1723000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:1721800-1724000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:1721800-1727200	Weak transcription	NHLF	lung
44	chr12:1721800-1727800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:1721800-1734600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:1721800-1738600	Weak transcription	Fetal Brain Female	brain

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