Variant report

Variant	rs1150057
Chromosome Location	chr12:49937813-49937814
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	MAX	chr12:49937680-49938517	H1-hESC	embryonic stem cell:	n/a	chr12:49938322-49938331 chr12:49938322-49938331 chr12:49938321-49938332 chr12:49938322-49938331

No.	Distal block	Cell Line	Cell type
1	chr12:49937336..49938883-chr12:49959337..49961156,2	MCF-7	breast:
2	chr12:49759638..49761406-chr12:49937675..49939250,2	MCF-7	breast:
3	chr12:49936941..49938508-chr12:49948825..49950668,2	MCF-7	breast:

Variant related genes	Relation type
KCNH3	TF binding region
ENSG00000187778	Chromatin interaction
ENSG00000135519	Chromatin interaction
ENSG00000123352	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11169063	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11169065	1.00[JPT][hapmap]
rs11169069	0.85[JPT][hapmap]
rs11169073	0.85[JPT][hapmap]
rs11169080	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11169081	0.85[JPT][hapmap]
rs11169082	0.85[JPT][hapmap]
rs11169092	0.85[JPT][hapmap]
rs11169097	0.85[JPT][hapmap]
rs11169101	1.00[JPT][hapmap]
rs11169104	0.85[JPT][hapmap]
rs11169106	0.85[JPT][hapmap]
rs11833411	0.85[JPT][hapmap]
rs11834380	0.85[JPT][hapmap]
rs12299505	0.85[JPT][hapmap]
rs12303310	0.85[JPT][hapmap]
rs12310510	0.85[JPT][hapmap]
rs12311839	0.84[JPT][hapmap]
rs12321819	0.85[JPT][hapmap]
rs13906	0.85[JPT][hapmap]
rs1574326	0.85[JPT][hapmap]
rs17123808	0.85[JPT][hapmap]
rs1902329	1.00[JPT][hapmap]
rs1902330	0.82[JPT][hapmap]
rs2278068	1.00[JPT][hapmap]
rs2278069	0.85[JPT][hapmap]
rs2303305	0.85[JPT][hapmap]
rs2336058	0.85[JPT][hapmap]
rs2878532	1.00[JPT][hapmap]
rs3815832	0.85[JPT][hapmap]
rs3887727	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3887728	0.85[JPT][hapmap]
rs4073998	1.00[JPT][hapmap]
rs4133070	0.85[JPT][hapmap]
rs4584654	0.85[JPT][hapmap]
rs7131915	0.85[JPT][hapmap]
rs7132792	0.85[JPT][hapmap]
rs7137976	0.85[JPT][hapmap]
rs7296281	0.85[JPT][hapmap]
rs7299609	0.85[JPT][hapmap]
rs7301209	0.85[JPT][hapmap]
rs7952734	0.85[JPT][hapmap]
rs7952938	0.86[ASN][1000 genomes]
rs7953911	0.85[JPT][hapmap]
rs7954994	0.85[JPT][hapmap]
rs7956181	0.85[JPT][hapmap]
rs7962863	1.00[JPT][hapmap]
rs7963954	1.00[JPT][hapmap]
rs7965658	1.00[JPT][hapmap]
rs7970241	0.85[JPT][hapmap]
rs7973389	0.85[JPT][hapmap]
rs7975599	0.85[JPT][hapmap]
rs7977389	0.85[JPT][hapmap]
rs7979285	0.85[CEU][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs8626	1.00[JPT][hapmap]
rs876889	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv899071	chr12:49927148-49955935	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49933000-49942600	Weak transcription	Pancreas	Pancrea
2	chr12:49933400-49942000	Weak transcription	Right Ventricle	heart
3	chr12:49933400-49942400	Weak transcription	Right Atrium	heart
4	chr12:49934200-49942000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:49934600-49942200	Weak transcription	Brain Angular Gyrus	brain
6	chr12:49935200-49938200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:49936200-49939200	Bivalent Enhancer	Fetal Thymus	thymus
8	chr12:49936600-49938400	Enhancers	Spleen	Spleen
9	chr12:49936800-49938200	Bivalent Enhancer	Fetal Intestine Large	intestine
10	chr12:49937000-49938000	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr12:49937200-49938400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr12:49937200-49939000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:49937400-49938000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:49937400-49940200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:49937400-49942000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:49937600-49938000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr12:49937600-49938000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:49937600-49938000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:49937600-49938200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
20	chr12:49937600-49938200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr12:49937600-49938200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:49937600-49938200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:49937600-49938400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:49937600-49938400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:49937600-49938400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr12:49937600-49938400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr12:49937600-49938400	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr12:49937600-49938400	Enhancers	Ovary	ovary
29	chr12:49937600-49938800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:49937600-49939000	Enhancers	Brain Anterior Caudate	brain
31	chr12:49937800-49938000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:49937800-49938000	Bivalent Enhancer	HepG2	liver
33	chr12:49937800-49938200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:49937800-49938200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:49937800-49938400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
36	chr12:49937800-49938400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr12:49937800-49938400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:49937800-49938400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

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