Variant report

Variant	rs7315955
Chromosome Location	chr12:50690454-50690455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50676871..50679447-chr12:50689934..50691681,2	K562	blood:

Variant related genes	Relation type
ENSG00000050405	Chromatin interaction
ENSG00000203433	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10467106	0.81[ASN][1000 genomes]
rs10506292	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10783344	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10783349	0.86[EUR][1000 genomes]
rs10783350	0.83[EUR][1000 genomes]
rs10783353	0.86[ASN][1000 genomes]
rs10876013	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876014	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876015	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876016	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876017	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876018	0.83[EUR][1000 genomes]
rs10876023	0.87[ASN][1000 genomes]
rs10876028	0.87[ASN][1000 genomes]
rs11169314	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169315	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169317	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169319	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169322	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169331	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169332	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169335	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169339	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169345	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169347	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169348	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169349	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169350	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169351	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169357	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169359	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169360	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169367	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169369	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169370	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169371	0.85[EUR][1000 genomes]
rs11169373	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169374	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169375	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169376	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169377	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169379	0.83[EUR][1000 genomes]
rs11169386	0.82[EUR][1000 genomes]
rs11169390	0.87[ASN][1000 genomes]
rs11169391	0.86[ASN][1000 genomes]
rs11169395	0.86[ASN][1000 genomes]
rs11836169	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11838347	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12299669	0.82[ASN][1000 genomes]
rs12299758	0.86[ASN][1000 genomes]
rs12303082	0.87[ASN][1000 genomes]
rs12312177	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12422417	0.87[ASN][1000 genomes]
rs12424691	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12424713	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12424876	0.86[ASN][1000 genomes]
rs12425229	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12425705	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12426444	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12811291	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12814094	0.87[ASN][1000 genomes]
rs12821454	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12821504	0.81[EUR][1000 genomes]
rs12823506	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12828340	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12832940	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1362983	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17124562	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1972611	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1984993	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2009072	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2111988	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2302900	0.80[EUR][1000 genomes]
rs2358539	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28628775	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34039674	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34614542	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34825838	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34849043	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34858415	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34894919	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35209607	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35535298	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35663729	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35768991	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35878271	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35933908	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36017775	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3812825	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3861100	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4348979	0.87[ASN][1000 genomes]
rs4421818	0.87[ASN][1000 genomes]
rs4768855	0.86[ASN][1000 genomes]
rs4768872	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768949	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768951	0.82[EUR][1000 genomes]
rs6580735	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6580736	0.87[EUR][1000 genomes]
rs6580737	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580738	0.87[EUR][1000 genomes]
rs6580739	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6580740	0.85[EUR][1000 genomes]
rs6580741	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6580743	0.84[ASN][1000 genomes]
rs67138019	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132551	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7135777	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71465002	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7295847	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7296291	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7301186	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7301189	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7302363	0.87[ASN][1000 genomes]
rs7304445	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7305995	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7308095	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7308885	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7310541	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7311378	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7311491	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7311973	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7312252	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7314465	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7315871	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7399343	0.83[EUR][1000 genomes]
rs7485486	0.86[EUR][1000 genomes]
rs7486747	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7488682	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7489214	0.83[EUR][1000 genomes]
rs7953953	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7956468	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7972824	0.83[ASN][1000 genomes]
rs7974648	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7979830	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7980911	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9668187	0.86[ASN][1000 genomes]
rs9705460	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9739363	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv702	chr12:50670870-50715934	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7315955	CERS5	cis	Nerve Tibial	GTEx
rs7315955	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs7315955	ATF1	cis	Artery Tibial	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50678000-50691600	Weak transcription	Gastric	stomach
2	chr12:50678000-50699800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:50678400-50690800	Weak transcription	Fetal Stomach	stomach
4	chr12:50678400-50690800	Weak transcription	A549	lung
5	chr12:50678400-50691000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:50678400-50696000	Weak transcription	HSMM	muscle
7	chr12:50678400-50708600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:50678600-50691800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:50678600-50695600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:50678600-50698800	Weak transcription	Pancreas	Pancrea
11	chr12:50678800-50690600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:50678800-50691200	Weak transcription	Left Ventricle	heart
13	chr12:50678800-50691600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:50679000-50696200	Weak transcription	Osteobl	bone
15	chr12:50679600-50690800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:50679800-50708600	Weak transcription	Liver	Liver
17	chr12:50680000-50691800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:50680200-50691800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:50682200-50691000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:50684600-50691200	Weak transcription	Lung	lung
21	chr12:50686000-50699000	Weak transcription	Primary T cells from cord blood	blood
22	chr12:50686200-50691400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:50686600-50691600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:50686600-50691600	Weak transcription	Fetal Intestine Large	intestine
25	chr12:50686800-50696000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:50687000-50696600	Weak transcription	K562	blood
27	chr12:50687000-50705600	Weak transcription	HSMMtube	muscle
28	chr12:50687600-50690800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:50689600-50692000	Weak transcription	Spleen	Spleen
30	chr12:50689600-50692200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:50689800-50691400	Weak transcription	Fetal Intestine Small	intestine
32	chr12:50689800-50692000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr12:50689800-50692200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:50689800-50692200	Enhancers	NHEK	skin
35	chr12:50690000-50711800	Weak transcription	Ovary	ovary
36	chr12:50690200-50691000	Weak transcription	Adipose Nuclei	Adipose
37	chr12:50690400-50690600	Enhancers	Small Intestine	intestine
38	chr12:50690400-50690600	Enhancers	HUVEC	blood vessel
39	chr12:50690400-50692200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:50690400-50692400	Enhancers	Skeletal Muscle Female	skeletal muscle

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