Variant report

Variant	rs12820966
Chromosome Location	chr12:51488422-51488423
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51475858..51478802-chr12:51488243..51491629,4	K562	blood:
2	chr12:51483401..51485613-chr12:51487391..51490176,3	K562	blood:
3	chr12:51484035..51486422-chr12:51486833..51488800,2	MCF-7	breast:
4	chr12:51474025..51479149-chr12:51485745..51494502,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1005559	0.86[EUR][1000 genomes]
rs1048230	0.83[EUR][1000 genomes]
rs10506298	0.83[EUR][1000 genomes]
rs10506299	0.83[EUR][1000 genomes]
rs1056897	0.82[AMR][1000 genomes]
rs10747604	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169633	0.81[EUR][1000 genomes]
rs11169636	0.81[EUR][1000 genomes]
rs11169637	0.81[EUR][1000 genomes]
rs11169641	0.81[EUR][1000 genomes]
rs11169642	0.81[EUR][1000 genomes]
rs11169644	0.81[EUR][1000 genomes]
rs11169647	0.81[EUR][1000 genomes]
rs11169648	0.81[EUR][1000 genomes]
rs11169649	0.81[EUR][1000 genomes]
rs11169652	0.83[EUR][1000 genomes]
rs11169654	0.83[EUR][1000 genomes]
rs11169655	0.83[EUR][1000 genomes]
rs11169661	0.83[EUR][1000 genomes]
rs11169667	0.83[EUR][1000 genomes]
rs11169669	0.83[EUR][1000 genomes]
rs11169670	0.83[EUR][1000 genomes]
rs11169671	0.83[EUR][1000 genomes]
rs11169672	0.82[EUR][1000 genomes]
rs11169682	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11169712	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169726	0.82[AMR][1000 genomes]
rs11169727	0.82[AMR][1000 genomes]
rs11169729	0.82[AMR][1000 genomes]
rs11169731	0.82[AMR][1000 genomes]
rs11169736	0.82[AMR][1000 genomes]
rs11169742	0.82[AMR][1000 genomes]
rs11519977	0.81[EUR][1000 genomes]
rs11831810	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11831946	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11833022	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11834746	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366476	0.81[EUR][1000 genomes]
rs12366756	0.83[EUR][1000 genomes]
rs12370820	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12371463	0.83[EUR][1000 genomes]
rs12372173	0.86[EUR][1000 genomes]
rs12809563	0.81[EUR][1000 genomes]
rs12809790	0.90[ASN][1000 genomes]
rs12809832	0.82[AMR][1000 genomes]
rs12810174	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12810455	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12810596	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810659	0.83[EUR][1000 genomes]
rs12810700	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810990	0.90[ASN][1000 genomes]
rs12811508	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12811658	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12811684	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12812650	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12813309	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12813368	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813728	0.82[EUR][1000 genomes]
rs12814498	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12817386	0.83[EUR][1000 genomes]
rs12818033	0.81[EUR][1000 genomes]
rs12819225	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12819517	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12820074	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820559	0.82[AMR][1000 genomes]
rs12821444	0.81[EUR][1000 genomes]
rs12822509	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12823402	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12824225	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12826153	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827861	0.83[EUR][1000 genomes]
rs12828349	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12828536	0.86[EUR][1000 genomes]
rs12829630	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12830048	0.81[EUR][1000 genomes]
rs12830073	0.86[EUR][1000 genomes]
rs12831269	0.83[EUR][1000 genomes]
rs12833314	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12833565	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs15897	0.83[EUR][1000 genomes]
rs17125137	0.81[EUR][1000 genomes]
rs17296192	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2285228	0.83[EUR][1000 genomes]
rs2285230	0.83[EUR][1000 genomes]
rs2301529	0.83[EUR][1000 genomes]
rs34057357	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34481246	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34498074	0.88[AMR][1000 genomes]
rs34735738	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35037088	0.81[EUR][1000 genomes]
rs4768964	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768967	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6580784	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580792	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6580793	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67133203	0.84[EUR][1000 genomes]
rs67259551	0.83[EUR][1000 genomes]
rs67260912	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67293043	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7135059	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71445772	0.81[EUR][1000 genomes]
rs7305638	0.81[EUR][1000 genomes]
rs7306293	0.81[EUR][1000 genomes]
rs7954140	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7958064	0.82[AMR][1000 genomes]
rs7959075	0.81[EUR][1000 genomes]
rs7959082	0.81[EUR][1000 genomes]
rs7960381	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7964570	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972406	0.86[EUR][1000 genomes]
rs7975147	0.86[EUR][1000 genomes]
rs7976777	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977104	0.82[AMR][1000 genomes]
rs7978723	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7980874	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs970098	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970099	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477400-51488800	Weak transcription	Gastric	stomach
2	chr12:51477400-51490000	Weak transcription	Small Intestine	intestine
3	chr12:51477400-51518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:51477800-51488600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:51477800-51488800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:51477800-51490000	Weak transcription	Aorta	Aorta
7	chr12:51477800-51492600	Weak transcription	Esophagus	oesophagus
8	chr12:51477800-51499600	Weak transcription	NHLF	lung
9	chr12:51477800-51518400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:51477800-51518400	Weak transcription	Pancreas	Pancrea
11	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:51478000-51496000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:51478200-51493200	Weak transcription	Fetal Brain Male	brain
14	chr12:51479800-51492000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:51482800-51498000	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:51482800-51499400	Strong transcription	Fetal Stomach	stomach
17	chr12:51483000-51492200	Weak transcription	K562	blood
18	chr12:51483800-51513400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:51484000-51491000	Strong transcription	HSMM	muscle
20	chr12:51484000-51502000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:51484000-51519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:51484400-51506000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:51484800-51507000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:51485000-51498400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:51485000-51507600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:51485000-51513200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:51485200-51493400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:51485600-51498200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr12:51485600-51498200	Strong transcription	Fetal Thymus	thymus
30	chr12:51485800-51497400	Strong transcription	Fetal Intestine Small	intestine
31	chr12:51485800-51513200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:51486000-51489400	Strong transcription	Lung	lung
33	chr12:51486000-51490600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:51486000-51490800	Strong transcription	GM12878-XiMat	blood
35	chr12:51486000-51511400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:51486400-51510800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:51486600-51508000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:51486800-51497800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:51486800-51504600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:51486800-51508000	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr12:51487000-51490800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:51487000-51498200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:51487000-51505000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:51487000-51506600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:51487000-51511400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:51487200-51498000	Strong transcription	Osteobl	bone
47	chr12:51487200-51498200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:51487200-51498400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:51487200-51502000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr12:51487200-51505000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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