Variant report

Variant	rs12811291
Chromosome Location	chr12:50602734-50602735
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50601699..50604230-chr12:50607719..50610299,2	K562	blood:
2	chr12:50597958..50602856-chr12:50604694..50610518,6	K562	blood:
3	chr12:50596667..50602931-chr12:50613575..50616735,6	K562	blood:
4	chr12:50597580..50599392-chr12:50600768..50603210,2	MCF-7	breast:
5	chr12:50601489..50603289-chr12:50793888..50795688,2	MCF-7	breast:
6	chr12:50601076..50602931-chr12:50613575..50615759,2	K562	blood:

Variant related genes	Relation type
ENSG00000161813	Chromatin interaction
ENSG00000050405	Chromatin interaction

Extended variants
information (count: 137 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10506292	0.84[ASN][1000 genomes]
rs10783344	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10783349	0.84[EUR][1000 genomes]
rs10783350	0.82[EUR][1000 genomes]
rs10783353	0.81[ASN][1000 genomes]
rs10876013	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876014	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876015	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876016	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876017	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876018	0.82[EUR][1000 genomes]
rs10876023	0.83[ASN][1000 genomes]
rs10876028	0.82[ASN][1000 genomes]
rs11169314	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169315	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169317	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169319	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169331	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169332	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169335	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169339	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169345	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169347	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169348	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169349	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169350	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169351	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169357	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169359	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169360	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169367	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169369	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169370	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169371	0.84[EUR][1000 genomes]
rs11169373	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169374	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169375	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169376	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169377	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169379	0.82[EUR][1000 genomes]
rs11169386	0.81[EUR][1000 genomes]
rs11169390	0.83[ASN][1000 genomes]
rs11169391	0.82[ASN][1000 genomes]
rs11169395	0.81[ASN][1000 genomes]
rs11836169	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11838347	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12299758	0.84[ASN][1000 genomes]
rs12303082	0.83[ASN][1000 genomes]
rs12312177	0.81[ASN][1000 genomes]
rs12422417	0.83[ASN][1000 genomes]
rs12424691	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12424713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12424876	0.81[ASN][1000 genomes]
rs12425229	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425705	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12426444	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12814094	0.83[ASN][1000 genomes]
rs12821454	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12823506	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12828340	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12832940	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1362983	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17124562	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1972611	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1984993	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2009072	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2111988	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2302900	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2358539	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28628775	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34039674	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34614542	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34825838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34849043	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34858415	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34894919	0.81[ASN][1000 genomes]
rs35209607	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35535298	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35663729	0.83[EUR][1000 genomes]
rs35768991	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35878271	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35933908	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36017775	0.80[ASN][1000 genomes]
rs3812825	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861100	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4348979	0.83[ASN][1000 genomes]
rs4421818	0.83[ASN][1000 genomes]
rs4768855	0.81[ASN][1000 genomes]
rs4768872	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768949	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768951	0.81[EUR][1000 genomes]
rs6580730	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6580735	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580736	0.86[EUR][1000 genomes]
rs6580737	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6580738	0.86[EUR][1000 genomes]
rs6580739	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6580740	0.83[EUR][1000 genomes]
rs6580741	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67138019	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7132551	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7135777	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71465002	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295847	0.84[ASN][1000 genomes]
rs7296291	0.84[ASN][1000 genomes]
rs7301186	0.81[EUR][1000 genomes]
rs7301189	0.80[EUR][1000 genomes]
rs7302363	0.83[ASN][1000 genomes]
rs7304445	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7305995	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7308095	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7308885	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7310541	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311378	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7311491	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7311973	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7312252	0.84[ASN][1000 genomes]
rs7314465	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7315871	0.84[EUR][1000 genomes]
rs7315955	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7399343	0.82[EUR][1000 genomes]
rs7485486	0.83[EUR][1000 genomes]
rs7486747	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7488682	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7489214	0.82[EUR][1000 genomes]
rs7953953	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7956468	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7974648	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7979830	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7980911	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9668187	0.81[ASN][1000 genomes]
rs9705460	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9739363	0.83[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	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12811291	CERS5	cis	Nerve Tibial	GTEx
rs12811291	ATF1	cis	Artery Tibial	GTEx
rs12811291	DIP2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50571800-50614200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:50572200-50614000	Weak transcription	Right Ventricle	heart
3	chr12:50582800-50614000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:50582800-50614200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:50583000-50614400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:50585200-50604000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:50585200-50604000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:50591000-50603000	Strong transcription	Fetal Muscle Trunk	muscle
9	chr12:50591600-50615600	Weak transcription	HepG2	liver
10	chr12:50593400-50614200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:50593400-50614200	Weak transcription	Fetal Brain Male	brain
12	chr12:50593400-50614600	Weak transcription	Esophagus	oesophagus
13	chr12:50596200-50613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:50596600-50604600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:50596600-50605400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:50596600-50607200	Strong transcription	Fetal Intestine Small	intestine
17	chr12:50596800-50604200	Strong transcription	Fetal Stomach	stomach
18	chr12:50596800-50607600	Weak transcription	Stomach Mucosa	stomach
19	chr12:50596800-50614000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:50597000-50603200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr12:50597000-50604600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:50597200-50604200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr12:50597800-50605000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:50597800-50608800	Strong transcription	Fetal Intestine Large	intestine
25	chr12:50598400-50602800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:50598400-50605800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:50598400-50611400	Weak transcription	Spleen	Spleen
28	chr12:50598400-50613400	Weak transcription	K562	blood
29	chr12:50598600-50603800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:50598600-50604400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:50598600-50605200	Weak transcription	Thymus	Thymus
32	chr12:50598600-50605600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:50598600-50612400	Weak transcription	Psoas Muscle	Psoas
34	chr12:50598600-50613400	Weak transcription	Aorta	Aorta
35	chr12:50598600-50613400	Weak transcription	Fetal Kidney	kidney
36	chr12:50598600-50614000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:50598600-50614000	Weak transcription	Brain Germinal Matrix	brain
38	chr12:50599000-50605400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:50599000-50612000	Weak transcription	Gastric	stomach
40	chr12:50599000-50614200	Weak transcription	Fetal Brain Female	brain
41	chr12:50599200-50614200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:50599400-50603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:50599400-50606000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:50599400-50614000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:50599400-50615000	Weak transcription	Liver	Liver
46	chr12:50599600-50603000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:50599600-50603600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:50599600-50604000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:50599600-50610200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:50599600-50613400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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