Variant report

Variant	rs12812752
Chromosome Location	chr12:26163156-26163157
allele	A/G
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	TFAP2C	chr12:26163076-26163609	Hela-S3	cervix:	n/a	n/a
2	JUND	chr12:26163061-26163887	SK-N-SH	brain:	n/a	chr12:26163325-26163335 chr12:26163176-26163188 chr12:26163320-26163329 chr12:26163327-26163334 chr12:26163325-26163334
3	PBX3	chr12:26163075-26164580	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr12:26163057-26163908	U87	brain:	n/a	n/a
5	NFIC	chr12:26162982-26163869	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr12:26163041-26164553	SK-N-SH	brain:	n/a	chr12:26163567-26163574 chr12:26163798-26163809 chr12:26164176-26164185
7	YY1	chr12:26163131-26163421	SK-N-SH_RA	brain:	n/a	chr12:26163294-26163302
8	FOSL2	chr12:26163076-26163644	SK-N-SH	brain:	n/a	chr12:26163325-26163335 chr12:26163176-26163188 chr12:26163320-26163329 chr12:26163327-26163334 chr12:26163325-26163334
9	NFIC	chr12:26163071-26163739	SK-N-SH	brain:	n/a	n/a
10	EP300	chr12:26163030-26163705	ECC-1	luminal epithelium:	n/a	chr12:26163325-26163334
11	YY1	chr12:26163108-26163581	SK-N-SH	brain:	n/a	chr12:26163294-26163302
12	POLR2A	chr12:26163090-26163772	U87	brain:	n/a	n/a
13	RXRA	chr12:26163133-26163791	SK-N-SH	brain:	n/a	chr12:26163325-26163334 chr12:26163691-26163698
14	TCF12	chr12:26163053-26164648	SK-N-SH	brain:	n/a	n/a
15	TEAD4	chr12:26163131-26163816	SK-N-SH	brain:	n/a	n/a
16	TCF12	chr12:26163044-26164692	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr12:26162988-26164584	SK-N-SH	brain:	n/a	chr12:26163567-26163574 chr12:26163798-26163809 chr12:26164176-26164185
18	POLR2A	chr12:26163125-26163747	SK-N-SH	brain:	n/a	n/a
19	EP300	chr12:26163004-26164496	SK-N-SH	brain:	n/a	chr12:26163325-26163334

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26115121..26117506-chr12:26161572..26164104,2	MCF-7	breast:

Variant related genes	Relation type
RASSF8	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10505990	0.81[JPT][hapmap]
rs10842643	0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10842644	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10842653	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048360	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11048372	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11048376	0.82[JPT][hapmap]
rs11048378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048379	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048380	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11048381	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11048382	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11048383	0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11048384	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11048389	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11048390	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1120064	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1149804	0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11561207	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12227689	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12578169	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12579489	0.83[JPT][hapmap];0.81[AMR][1000 genomes]
rs12581098	0.83[JPT][hapmap]
rs12581361	0.83[JPT][hapmap]
rs12812200	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12813641	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12818478	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12831248	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1390326	1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs1495660	0.81[AMR][1000 genomes]
rs1691889	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16929784	0.94[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16929817	0.94[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16929830	0.94[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16929846	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16929940	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16929945	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16929950	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16929958	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16929973	0.82[JPT][hapmap]
rs2055180	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2132317	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2279680	0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2343201	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2643941	1.00[CEU][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34294573	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34595529	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35924984	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3741546	0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs3741547	0.83[JPT][hapmap]
rs3803009	0.94[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58299475	0.81[AMR][1000 genomes]
rs59757232	0.81[AMR][1000 genomes]
rs60335536	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61622173	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6487525	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs706524	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs706526	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs706531	0.93[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs706532	0.94[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs706533	0.94[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs706538	0.94[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7132590	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7134721	0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7298162	0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7309394	0.82[JPT][hapmap]
rs7313961	0.81[JPT][hapmap]
rs7953171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7963603	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7963856	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs829837	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs829987	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs853656	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs954476	0.82[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26148000-26163600	Weak transcription	Aorta	Aorta
2	chr12:26150800-26163200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:26154800-26163400	Weak transcription	HSMMtube	muscle
4	chr12:26155800-26163200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:26156400-26163400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:26156600-26163600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:26160600-26163200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:26160600-26163200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:26160600-26163200	Weak transcription	Pancreas	Pancrea
10	chr12:26160600-26163400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:26160600-26163600	Weak transcription	Fetal Stomach	stomach
12	chr12:26160600-26167000	Weak transcription	Gastric	stomach
13	chr12:26160600-26168000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:26160600-26168200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:26160600-26168200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:26160600-26168200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:26160600-26170400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:26160600-26170600	Weak transcription	Fetal Intestine Small	intestine
19	chr12:26160600-26171600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:26161400-26164800	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:26161600-26164200	Enhancers	Fetal Heart	heart
22	chr12:26161600-26164600	Enhancers	Brain Anterior Caudate	brain
23	chr12:26161600-26167400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:26161800-26163400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:26161800-26164800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:26161800-26164800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:26161800-26164800	Enhancers	Right Atrium	heart
28	chr12:26161800-26165000	Enhancers	Colon Smooth Muscle	Colon
29	chr12:26162000-26164800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:26162200-26163200	Flanking Active TSS	NHDF-Ad	bronchial
31	chr12:26162200-26163400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:26162200-26164000	Weak transcription	Fetal Lung	lung
33	chr12:26162400-26163200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:26162400-26163800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:26162400-26164600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:26162400-26164600	Enhancers	Brain Substantia Nigra	brain
37	chr12:26162400-26164800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:26162400-26164800	Enhancers	Left Ventricle	heart
39	chr12:26162400-26164800	Enhancers	Ovary	ovary
40	chr12:26162400-26164800	Enhancers	Psoas Muscle	Psoas
41	chr12:26162400-26165000	Enhancers	HUVEC	blood vessel
42	chr12:26162600-26163800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr12:26162600-26164000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:26162600-26164200	Enhancers	Brain Angular Gyrus	brain
45	chr12:26162600-26164400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:26162600-26164800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:26162600-26164800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:26162600-26164800	Enhancers	Adipose Nuclei	Adipose
49	chr12:26162600-26164800	Enhancers	HMEC	breast
50	chr12:26162600-26164800	Enhancers	NHEK	skin

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