Variant report

Variant	rs11050264
Chromosome Location	chr12:29669768-29669769
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	TCF12	chr12:29669225-29669897	SK-N-SH	brain:	n/a	n/a
2	EP300	chr12:29669377-29670027	Hela-S3	cervix:	n/a	chr12:29669720-29669734 chr12:29669536-29669545
3	SMC3	chr12:29669388-29669825	Hela-S3	cervix:	n/a	n/a
4	JUND	chr12:29669186-29669786	Hela-S3	cervix:	n/a	chr12:29669535-29669544 chr12:29669535-29669545 chr12:29669535-29669545
5	GATA3	chr12:29669107-29670117	SK-N-SH	brain:	n/a	chr12:29669458-29669474 chr12:29669537-29669546
6	RAD21	chr12:29669337-29669865	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr12:29669448-29669816	Hela-S3	cervix:	n/a	n/a
8	RCOR1	chr12:29669362-29669824	Hela-S3	cervix:	n/a	n/a
9	JUND	chr12:29669276-29669842	SK-N-SH	brain:	n/a	chr12:29669535-29669544 chr12:29669535-29669545 chr12:29669535-29669545
10	TBP	chr12:29669517-29669885	Hela-S3	cervix:	n/a	n/a
11	STAT3	chr12:29669492-29669875	Hela-S3	cervix:	n/a	chr12:29669535-29669544
12	GATA3	chr12:29669216-29670050	SK-N-SH	brain:	n/a	chr12:29669458-29669474 chr12:29669537-29669546
13	CEBPB	chr12:29669466-29670641	Hela-S3	cervix:	n/a	chr12:29670549-29670562 chr12:29670253-29670270
14	MAX	chr12:29669352-29669838	Hela-S3	cervix:	n/a	n/a
15	PBX3	chr12:29669241-29669934	SK-N-SH	brain:	n/a	chr12:29669627-29669636
16	EP300	chr12:29669210-29670042	SK-N-SH	brain:	n/a	chr12:29669720-29669734 chr12:29669536-29669545
17	PBX3	chr12:29669243-29669838	SK-N-SH	brain:	n/a	chr12:29669627-29669636
18	FOSL2	chr12:29669265-29669862	SK-N-SH	brain:	n/a	chr12:29669535-29669544 chr12:29669535-29669545 chr12:29669535-29669545
19	EP300	chr12:29669636-29669920	K562	blood:	n/a	chr12:29669720-29669734

Variant related genes	Relation type
ENSG00000257456	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11050265	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12164837	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12227259	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12297627	1.00[TSI][hapmap]
rs12299179	1.00[TSI][hapmap]
rs12319420	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29600600-29675600	Weak transcription	Psoas Muscle	Psoas
2	chr12:29650400-29699000	Weak transcription	Right Ventricle	heart
3	chr12:29652200-29673200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:29653400-29672200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:29655400-29672200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:29656200-29673800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:29657200-29675600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:29658000-29680200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:29658000-29681200	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:29658400-29670000	Weak transcription	Lung	lung
11	chr12:29658400-29690200	Weak transcription	HMEC	breast
12	chr12:29658600-29670200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:29658600-29678800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:29660000-29672800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:29660800-29690000	Weak transcription	NHDF-Ad	bronchial
16	chr12:29663400-29671600	Strong transcription	Left Ventricle	heart
17	chr12:29664000-29671600	Strong transcription	Adipose Nuclei	Adipose
18	chr12:29664000-29671600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr12:29665400-29725400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:29665800-29675000	Weak transcription	Fetal Heart	heart
21	chr12:29666000-29671000	Weak transcription	Esophagus	oesophagus
22	chr12:29666600-29671600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:29666800-29670600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:29666800-29670600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:29666800-29671000	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:29667000-29671600	Strong transcription	Fetal Stomach	stomach
27	chr12:29667000-29680200	Weak transcription	Fetal Kidney	kidney
28	chr12:29667200-29670200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:29667200-29672000	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:29667200-29695600	Weak transcription	Ovary	ovary
31	chr12:29668000-29670400	Weak transcription	Fetal Brain Male	brain
32	chr12:29668400-29670200	Weak transcription	Brain Substantia Nigra	brain
33	chr12:29668600-29670200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:29668600-29674600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:29668600-29690000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:29668600-29695800	Weak transcription	Aorta	Aorta
37	chr12:29668800-29706000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:29668800-29716600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:29669000-29669800	Enhancers	NH-A	brain
40	chr12:29669000-29670000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:29669000-29670600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:29669200-29669800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:29669200-29669800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:29669200-29670000	Genic enhancers	Muscle Satellite Cultured Cells	--
45	chr12:29669200-29670200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:29669200-29671000	Strong transcription	Spleen	Spleen
47	chr12:29669200-29671200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:29669200-29671600	Strong transcription	Hela-S3	cervix
49	chr12:29669400-29669800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:29669400-29669800	Weak transcription	HSMM	muscle

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