Variant report

Variant	rs5753518
Chromosome Location	chr22:31631314-31631315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31478457..31480769-chr22:31630987..31633945,2	K562	blood:
2	chr22:31629654..31632643-chr22:31644434..31647307,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1005624	0.87[ASN][1000 genomes]
rs1034587	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10428007	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11089491	0.88[ASN][1000 genomes]
rs12106582	0.82[ASN][1000 genomes]
rs12627941	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs12628752	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17220369	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2027982	0.86[JPT][hapmap]
rs2072193	0.86[JPT][hapmap]
rs2073858	0.89[ASN][1000 genomes]
rs2074735	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs2239905	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2239906	0.97[ASN][1000 genomes]
rs2267169	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs2267170	0.93[ASN][1000 genomes]
rs2267171	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2283878	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2283880	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2413041	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28514306	0.82[ASN][1000 genomes]
rs28709894	0.81[ASN][1000 genomes]
rs34184692	0.97[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3761431	0.86[CHB][hapmap]
rs3788428	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs4561750	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4615	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.94[ASN][1000 genomes]
rs4820949	0.80[ASN][1000 genomes]
rs4820952	0.87[ASN][1000 genomes]
rs4820964	0.87[ASN][1000 genomes]
rs4820965	0.92[ASN][1000 genomes]
rs55737363	0.81[ASN][1000 genomes]
rs55900008	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs5749226	0.81[ASN][1000 genomes]
rs5749231	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs5749232	0.87[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs5749237	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs5749244	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs5749254	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5753488	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs5753528	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs5753531	0.92[ASN][1000 genomes]
rs5753550	0.94[ASN][1000 genomes]
rs5753551	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs5753559	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs5753560	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs58315696	0.83[ASN][1000 genomes]
rs5997898	0.86[JPT][hapmap]
rs5997940	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs61006749	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62237396	0.81[ASN][1000 genomes]
rs62237398	0.81[ASN][1000 genomes]
rs62237399	0.81[ASN][1000 genomes]
rs62237400	0.81[ASN][1000 genomes]
rs62237404	0.97[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs62237436	0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs68136222	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs72617294	0.90[ASN][1000 genomes]
rs72617295	0.94[ASN][1000 genomes]
rs73158522	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs737809	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs886074	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs9609263	0.82[JPT][hapmap]

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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31608800-31639800	Weak transcription	Aorta	Aorta
2	chr22:31609600-31639200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr22:31620200-31637200	Weak transcription	HSMM	muscle
4	chr22:31622200-31636800	Weak transcription	Hela-S3	cervix
5	chr22:31622600-31637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:31623800-31632800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr22:31625600-31639800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:31625800-31636000	Weak transcription	Ovary	ovary
9	chr22:31625800-31637000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:31625800-31637000	Weak transcription	HMEC	breast
11	chr22:31625800-31639600	Weak transcription	Esophagus	oesophagus
12	chr22:31626000-31637200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr22:31626000-31637400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:31626400-31635000	Weak transcription	Gastric	stomach
15	chr22:31626600-31632400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr22:31626600-31639800	Weak transcription	NHDF-Ad	bronchial
17	chr22:31626600-31643800	Weak transcription	Left Ventricle	heart
18	chr22:31626600-31643800	Weak transcription	Spleen	Spleen
19	chr22:31626800-31639600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:31627000-31637000	Weak transcription	NHLF	lung
21	chr22:31627200-31635000	Weak transcription	Small Intestine	intestine
22	chr22:31627200-31635600	Weak transcription	Osteobl	bone
23	chr22:31627200-31637000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:31627400-31637400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:31627600-31631400	Weak transcription	Colonic Mucosa	Colon
26	chr22:31627600-31631800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr22:31627600-31633400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr22:31627600-31635600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:31627600-31635800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:31627600-31635800	Weak transcription	Fetal Lung	lung
31	chr22:31627600-31637400	Weak transcription	Pancreas	Pancrea
32	chr22:31627600-31637600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr22:31627600-31639000	Weak transcription	Fetal Muscle Leg	muscle
34	chr22:31627600-31639600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr22:31627600-31639800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr22:31627600-31640000	Weak transcription	Fetal Heart	heart
37	chr22:31627600-31640800	Weak transcription	Liver	Liver
38	chr22:31627800-31633800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr22:31627800-31635800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:31627800-31636800	Weak transcription	Primary T cells from cord blood	blood
41	chr22:31627800-31636800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr22:31627800-31637000	Weak transcription	K562	blood
43	chr22:31627800-31637400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr22:31627800-31639400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr22:31627800-31639600	Weak transcription	Colon Smooth Muscle	Colon
46	chr22:31627800-31640000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr22:31627800-31640800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr22:31627800-31640800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr22:31627800-31643200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr22:31627800-31643400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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