Variant report

Variant	rs5753488
Chromosome Location	chr22:31561718-31561719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1005624	0.87[AMR][1000 genomes]
rs1034587	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10428007	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12106582	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12627805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12627941	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs12628752	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17220369	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2027982	0.87[JPT][hapmap]
rs2074735	0.86[CHB][hapmap]
rs2239905	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2239906	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2267169	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs2267171	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2283878	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2283880	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs2413041	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28709894	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs34184692	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3761431	0.90[CHB][hapmap]
rs3788428	0.90[CHB][hapmap]
rs4561750	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4615	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4645077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820040	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4820949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820965	0.83[EUR][1000 genomes]
rs55737363	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55900008	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5749222	0.85[YRI][hapmap]
rs5749226	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749231	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs5749232	0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5749237	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5749244	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5749254	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs5753487	0.85[ASN][1000 genomes]
rs5753499	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753501	0.80[ASN][1000 genomes]
rs5753518	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs5753528	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753550	0.81[AMR][1000 genomes]
rs5753551	0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753559	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs5753560	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753577	0.81[AMR][1000 genomes]
rs5997893	1.00[YRI][hapmap]
rs5997898	0.87[JPT][hapmap]
rs5997940	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs61006749	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62236175	0.81[AMR][1000 genomes]
rs62237396	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62237398	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62237399	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62237400	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62237404	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62237436	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs68136222	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73158522	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs737809	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8135417	1.00[YRI][hapmap]
rs886074	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9609263	0.83[JPT][hapmap]

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	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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31557000-31569400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:31557000-31573000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31557000-31575200	Weak transcription	Esophagus	oesophagus
4	chr22:31557200-31568800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:31557200-31569400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:31557200-31591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:31557400-31562200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:31557400-31565800	Weak transcription	Spleen	Spleen
9	chr22:31557400-31569200	Weak transcription	A549	lung
10	chr22:31557400-31575000	Weak transcription	Gastric	stomach
11	chr22:31557400-31579800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:31557400-31595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:31557400-31597800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:31557600-31564600	Weak transcription	Right Ventricle	heart
15	chr22:31557600-31575000	Weak transcription	Colonic Mucosa	Colon
16	chr22:31557600-31578600	Weak transcription	K562	blood
17	chr22:31557600-31591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:31557800-31564000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:31557800-31564200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr22:31557800-31568800	Weak transcription	Hela-S3	cervix
21	chr22:31557800-31569400	Weak transcription	Ovary	ovary
22	chr22:31557800-31587000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr22:31557800-31588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:31558000-31578000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:31558200-31563600	Weak transcription	Right Atrium	heart
26	chr22:31558200-31564200	Weak transcription	Brain Anterior Caudate	brain
27	chr22:31558200-31565000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr22:31558200-31573000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr22:31558200-31575000	Weak transcription	Stomach Mucosa	stomach
30	chr22:31558400-31564000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr22:31558400-31568800	Weak transcription	HMEC	breast
32	chr22:31558400-31569200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr22:31558400-31573000	Weak transcription	Fetal Heart	heart
34	chr22:31558600-31563800	Weak transcription	Brain Substantia Nigra	brain
35	chr22:31558600-31565800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr22:31558600-31583000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr22:31558600-31591400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr22:31558800-31563400	Weak transcription	HSMMtube	muscle
39	chr22:31558800-31564000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr22:31558800-31564000	Weak transcription	Brain Hippocampus Middle	brain
41	chr22:31558800-31564000	Weak transcription	HUVEC	blood vessel
42	chr22:31558800-31564200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr22:31558800-31564200	Weak transcription	Colon Smooth Muscle	Colon
44	chr22:31558800-31564600	Weak transcription	Aorta	Aorta
45	chr22:31558800-31568800	Weak transcription	Small Intestine	intestine
46	chr22:31558800-31572800	Weak transcription	Brain Germinal Matrix	brain
47	chr22:31558800-31591200	Weak transcription	Fetal Brain Male	brain
48	chr22:31558800-31606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr22:31559200-31564800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:31559200-31564800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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