Variant report

Variant	rs7956468
Chromosome Location	chr12:50657732-50657733
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50655699..50657734-chr12:50662717..50665167,2	K562	blood:
2	chr12:50656964..50659369-chr12:50666129..50668846,2	K562	blood:

Extended variants
information (count: 144 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10467106	0.82[ASN][1000 genomes]
rs10506292	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783344	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783349	0.92[EUR][1000 genomes]
rs10783350	0.89[EUR][1000 genomes]
rs10783352	0.81[ASN][1000 genomes]
rs10783353	0.87[ASN][1000 genomes]
rs10876013	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876014	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876015	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876016	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876017	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876018	0.89[EUR][1000 genomes]
rs10876023	0.89[ASN][1000 genomes]
rs10876028	0.88[ASN][1000 genomes]
rs11169314	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169315	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169317	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169319	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169322	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169331	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169332	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169335	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169339	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169345	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169347	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169349	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169350	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169351	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169357	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169359	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169360	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169367	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169369	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169370	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169371	0.91[EUR][1000 genomes]
rs11169373	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169374	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169375	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169376	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169377	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169379	0.89[EUR][1000 genomes]
rs11169386	0.88[EUR][1000 genomes]
rs11169390	0.89[ASN][1000 genomes]
rs11169391	0.88[ASN][1000 genomes]
rs11169395	0.87[ASN][1000 genomes]
rs11836169	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11838347	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299669	0.84[ASN][1000 genomes]
rs12299758	0.87[ASN][1000 genomes]
rs12303082	0.89[ASN][1000 genomes]
rs12312177	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12422417	0.89[ASN][1000 genomes]
rs12424691	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12424713	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12424876	0.88[ASN][1000 genomes]
rs12425229	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12425705	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12426444	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12811291	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12814094	0.89[ASN][1000 genomes]
rs12821454	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12821504	0.86[EUR][1000 genomes]
rs12823506	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12828340	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12832940	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362983	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17124562	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1972611	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1984993	0.87[ASN][1000 genomes]
rs2009072	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2111988	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302900	0.86[EUR][1000 genomes]
rs2358539	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28628775	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34039674	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34614542	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34825838	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34849043	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34858415	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34894919	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35209607	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35535298	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35663729	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35768991	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35878271	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35933908	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36017775	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3812825	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3861100	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4348979	0.89[ASN][1000 genomes]
rs4421818	0.89[ASN][1000 genomes]
rs4445717	0.81[ASN][1000 genomes]
rs4768855	0.87[ASN][1000 genomes]
rs4768872	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768949	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768951	0.88[EUR][1000 genomes]
rs6580735	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6580736	0.93[EUR][1000 genomes]
rs6580737	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580738	0.93[EUR][1000 genomes]
rs6580739	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6580740	0.90[EUR][1000 genomes]
rs6580741	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6580743	0.86[ASN][1000 genomes]
rs67138019	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7132551	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7135777	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71465002	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7295847	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7296291	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7301186	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7301189	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7302363	0.89[ASN][1000 genomes]
rs7304445	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305995	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308095	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7308885	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7310541	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7311378	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311491	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311973	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312252	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7314465	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7315871	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7315955	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7399343	0.89[EUR][1000 genomes]
rs7485486	0.91[EUR][1000 genomes]
rs7486747	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7488682	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7489214	0.89[EUR][1000 genomes]
rs7953953	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7972824	0.84[ASN][1000 genomes]
rs7974648	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7979830	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7980911	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9668187	0.87[ASN][1000 genomes]
rs9705460	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9739363	0.89[ASN][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	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	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
3	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7956468	CERS5	cis	Nerve Tibial	GTEx
rs7956468	DIP2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50641000-50662000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:50641400-50659600	Weak transcription	Esophagus	oesophagus
3	chr12:50648800-50668000	Weak transcription	Lung	lung
4	chr12:50649200-50665400	Weak transcription	Aorta	Aorta
5	chr12:50649200-50671000	Weak transcription	Small Intestine	intestine
6	chr12:50649600-50659600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:50652200-50659600	Weak transcription	Gastric	stomach
8	chr12:50652200-50661800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:50652200-50665400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:50652200-50675800	Weak transcription	Fetal Stomach	stomach
11	chr12:50652400-50657800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:50652400-50664800	Weak transcription	Liver	Liver
13	chr12:50652400-50665200	Weak transcription	NHLF	lung
14	chr12:50652400-50665400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:50652400-50668000	Weak transcription	Left Ventricle	heart
16	chr12:50652400-50671200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:50652400-50676200	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:50652400-50676400	Weak transcription	HSMM	muscle
19	chr12:50653000-50665400	Weak transcription	HSMMtube	muscle
20	chr12:50653200-50659600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:50653400-50665400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:50653800-50665600	Weak transcription	Colonic Mucosa	Colon
23	chr12:50654000-50661800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:50654000-50665400	Weak transcription	Fetal Lung	lung
25	chr12:50654200-50657800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:50654200-50659600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:50654200-50668200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:50654400-50665000	Weak transcription	Adipose Nuclei	Adipose
29	chr12:50654600-50659600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:50655400-50667800	Weak transcription	Pancreas	Pancrea
31	chr12:50655600-50657800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:50655600-50658200	Weak transcription	Fetal Intestine Small	intestine
33	chr12:50655600-50667800	Weak transcription	Psoas Muscle	Psoas
34	chr12:50656200-50659800	Weak transcription	Stomach Mucosa	stomach
35	chr12:50656200-50664800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:50656400-50659600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:50656600-50658600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:50657000-50658800	Strong transcription	Fetal Intestine Large	intestine
39	chr12:50657200-50659200	Weak transcription	NHEK	skin
40	chr12:50657200-50659600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:50657200-50659600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:50657200-50659600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:50657200-50659600	Weak transcription	HMEC	breast
44	chr12:50657200-50665400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:50657400-50658400	Weak transcription	HepG2	liver
46	chr12:50657400-50665000	Weak transcription	Hela-S3	cervix

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