Variant report

Variant	rs12303933
Chromosome Location	chr12:124482256-124482257
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	JUND	chr12:124481998-124482329	K562	blood:	n/a	n/a
2	JUND	chr12:124482069-124482379	HepG2	liver:	n/a	n/a
3	MAX	chr12:124481910-124482272	K562	blood:	n/a	n/a
4	ATF1	chr12:124482020-124482272	K562	blood:	n/a	n/a

Variant related genes	Relation type
ZNF664	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1054852	0.94[ASN][1000 genomes]
rs10846579	0.93[EUR][1000 genomes]
rs10846580	0.95[EUR][1000 genomes]
rs11057393	0.91[EUR][1000 genomes]
rs11057394	0.93[EUR][1000 genomes]
rs11057396	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057397	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11057399	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057400	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11057401	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057407	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057408	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057409	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057412	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057413	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831913	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11833002	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11835839	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11837287	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1187415	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296259	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12298484	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12301673	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12303671	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310367	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311114	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12311848	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316080	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12317176	0.92[EUR][1000 genomes]
rs12809125	0.93[EUR][1000 genomes]
rs12809473	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823740	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12824567	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827409	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829951	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12833624	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882491	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2130382	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178663	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3186071	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34102591	0.98[ASN][1000 genomes]
rs34114498	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34180676	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34854841	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34878139	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35099862	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35825716	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3789967	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3802999	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4405410	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4575361	0.86[EUR][1000 genomes]
rs4765127	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4765148	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765219	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765305	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765335	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765528	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765541	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765562	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765568	0.98[ASN][1000 genomes]
rs4930721	0.89[EUR][1000 genomes]
rs4930722	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4930723	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4930724	0.91[EUR][1000 genomes]
rs4930725	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4930726	0.97[EUR][1000 genomes]
rs55990776	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56041971	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488912	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488913	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488914	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7131882	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132655	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7133378	0.83[EUR][1000 genomes]
rs7134121	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7135314	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71458830	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301953	0.86[EUR][1000 genomes]
rs7305864	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7307053	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307277	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311233	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311969	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312404	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7955815	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7958691	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7961449	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7966192	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7973683	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7975482	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978610	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952632	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9863	0.83[EUR][1000 genomes]
rs9971695	0.94[EUR][1000 genomes]

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	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv1818097	chr12:124465667-124488972	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12303933	CCDC92	cis	Heart Left Ventricle	GTEx
rs12303933	RP11-380L11.4	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124461200-124496800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:124469000-124483000	Weak transcription	Ovary	ovary
3	chr12:124469000-124492600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:124470800-124490200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:124474400-124490400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:124474600-124484800	Weak transcription	Fetal Kidney	kidney
7	chr12:124475400-124488600	Weak transcription	Psoas Muscle	Psoas
8	chr12:124475600-124483600	Weak transcription	Colonic Mucosa	Colon
9	chr12:124475600-124485800	Strong transcription	Primary B cells from cord blood	blood
10	chr12:124476200-124492400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:124477400-124484400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:124477400-124484600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:124477600-124483200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:124477800-124482400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:124477800-124483000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:124477800-124483000	Weak transcription	Aorta	Aorta
17	chr12:124477800-124485800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:124477800-124486600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:124478000-124482600	Weak transcription	Lung	lung
20	chr12:124478000-124483200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:124478000-124485000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:124478000-124485000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:124478000-124490200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:124478200-124482400	Enhancers	Brain Hippocampus Middle	brain
25	chr12:124478200-124484600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:124478200-124489400	Enhancers	Fetal Heart	heart
27	chr12:124478400-124483000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:124478400-124485000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:124478400-124485000	Weak transcription	Hela-S3	cervix
30	chr12:124478600-124482400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:124478600-124482800	Weak transcription	Fetal Brain Female	brain
32	chr12:124478600-124483000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:124478600-124488200	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:124478600-124490200	Strong transcription	HepG2	liver
35	chr12:124479200-124482800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:124479200-124484200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:124479400-124482400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr12:124479400-124483600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:124479400-124484000	Enhancers	Right Atrium	heart
40	chr12:124479400-124485000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:124479400-124486400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr12:124479400-124493400	Strong transcription	Dnd41	blood
43	chr12:124479600-124482400	Weak transcription	GM12878-XiMat	blood
44	chr12:124479600-124483400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:124479600-124486600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr12:124479800-124482800	Enhancers	Adipose Nuclei	Adipose
47	chr12:124479800-124484400	Weak transcription	Pancreas	Pancrea
48	chr12:124479800-124488400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr12:124479800-124493000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:124480000-124482600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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