Variant report

Variant	rs12824567
Chromosome Location	chr12:124495203-124495204
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124440660..124443329-chr12:124494503..124496915,2	K562	blood:
2	chr12:124485640..124488869-chr12:124491698..124495418,5	K562	blood:
3	chr12:124492436..124495836-chr12:124497804..124500865,3	K562	blood:
4	chr12:124491034..124493507-chr12:124494589..124496940,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1054852	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs10773048	0.88[CHB][hapmap]
rs10846579	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs10846580	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs11057393	0.81[EUR][1000 genomes]
rs11057394	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs11057396	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs11057397	0.92[CEU][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes]
rs11057399	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11057400	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11057401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057407	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057408	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057409	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057412	0.93[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057413	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831913	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11833002	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11835839	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11837287	0.91[CEU][hapmap];0.89[CHB][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1187415	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296259	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12298484	0.92[CEU][hapmap];0.84[YRI][hapmap];0.87[EUR][1000 genomes]
rs12301673	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12303671	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303933	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310367	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12311848	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316080	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12317176	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs12809125	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs12809473	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823740	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs12827409	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829951	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12833624	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882491	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2130382	0.96[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178663	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3186071	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34102591	0.98[ASN][1000 genomes]
rs34114498	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34180676	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34854841	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34878139	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35099862	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35825716	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3789967	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3802999	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs4405410	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4575361	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4765127	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4765148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765219	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765305	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765335	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765528	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765541	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765562	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765568	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs4930721	0.96[CEU][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4930722	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4930723	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4930724	0.83[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs4930725	0.87[EUR][1000 genomes]
rs4930726	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs55990776	0.80[EUR][1000 genomes]
rs56041971	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488912	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488913	0.92[CEU][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488914	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7131882	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132655	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7133378	0.84[CEU][hapmap]
rs7134121	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7135314	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71458830	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301953	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7305864	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7307053	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307277	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311233	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311969	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312404	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7955815	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7958691	0.87[CEU][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7961449	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7966192	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7973683	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7975482	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978610	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952632	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9863	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs9971695	0.92[CEU][hapmap];0.84[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12824567	CCDC92	cis	Heart Left Ventricle	GTEx

Chromatin state (count:124 , 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	chr12:124480600-124496200	Weak transcription	Small Intestine	intestine
3	chr12:124484400-124498400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:124485000-124498800	Strong transcription	Hela-S3	cervix
5	chr12:124486000-124496400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:124486400-124496200	Weak transcription	HMEC	breast
7	chr12:124486800-124496200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:124486800-124496200	Weak transcription	NHLF	lung
9	chr12:124487000-124495800	Weak transcription	Ovary	ovary
10	chr12:124487200-124495400	Weak transcription	Esophagus	oesophagus
11	chr12:124488400-124498400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:124489200-124510400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:124489800-124496200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:124490400-124498800	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr12:124490400-124500400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:124490800-124496000	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:124491000-124496200	Weak transcription	Gastric	stomach
18	chr12:124491000-124497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:124491000-124497600	Weak transcription	Colonic Mucosa	Colon
20	chr12:124491200-124496200	Weak transcription	NHEK	skin
21	chr12:124491600-124498400	Strong transcription	Placenta	Placenta
22	chr12:124491600-124499400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr12:124491800-124495800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:124491800-124496200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:124491800-124497800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:124492000-124495400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:124492000-124496200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:124492000-124496200	Weak transcription	Spleen	Spleen
29	chr12:124492200-124496000	Weak transcription	HSMMtube	muscle
30	chr12:124492200-124496800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:124492200-124498000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:124492600-124495400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:124492600-124496400	Weak transcription	Aorta	Aorta
34	chr12:124492600-124499200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:124492800-124496000	Weak transcription	GM12878-XiMat	blood
36	chr12:124492800-124496200	Weak transcription	HepG2	liver
37	chr12:124493000-124495400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:124493000-124495400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:124493000-124495600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:124493000-124495800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:124493000-124496000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:124493000-124496200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:124493000-124496400	Weak transcription	Fetal Heart	heart
44	chr12:124493000-124500200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:124493000-124501400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:124493000-124501600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:124493000-124503200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:124493200-124495400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:124493200-124495600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:124493200-124495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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