Variant report

Variant	rs2283878
Chromosome Location	chr22:31620563-31620564
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	chr22:31619988..31622064-chr22:31622480..31625902,3	K562	blood:
2	chr22:31619703..31621726-chr22:31643199..31645730,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1005624	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1034587	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10428007	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089491	0.89[ASN][1000 genomes]
rs12106582	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12627805	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12627941	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12628752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17220369	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027982	0.91[JPT][hapmap]
rs2072193	0.81[JPT][hapmap]
rs2073858	0.89[ASN][1000 genomes]
rs2074735	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs2239905	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239906	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267169	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2267170	0.94[ASN][1000 genomes]
rs2267171	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283880	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2413041	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28514306	0.82[ASN][1000 genomes]
rs28709894	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34184692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3761431	0.86[CHB][hapmap]
rs3788428	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs4561750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4615	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4645077	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4820040	0.89[EUR][1000 genomes]
rs4820949	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4820952	0.88[ASN][1000 genomes]
rs4820964	0.88[ASN][1000 genomes]
rs4820965	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55737363	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55900008	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749222	0.85[YRI][hapmap]
rs5749226	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749231	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs5749232	0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749237	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749244	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5749254	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs5753488	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5753499	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5753518	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs5753528	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753531	0.93[ASN][1000 genomes]
rs5753550	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753551	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753559	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs5753560	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753573	0.89[EUR][1000 genomes]
rs5753577	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58315696	0.84[ASN][1000 genomes]
rs5997898	0.91[JPT][hapmap]
rs5997940	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs61006749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62236175	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62237396	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62237398	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62237399	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62237400	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62237404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62237436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68136222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72617294	0.91[ASN][1000 genomes]
rs72617295	0.95[ASN][1000 genomes]
rs73158522	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9609263	0.86[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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31608800-31639800	Weak transcription	Aorta	Aorta
2	chr22:31609200-31629000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:31609400-31621800	Weak transcription	Fetal Brain Female	brain
4	chr22:31609400-31625400	Weak transcription	NHLF	lung
5	chr22:31609400-31625400	Weak transcription	Osteobl	bone
6	chr22:31609600-31621400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:31609600-31621600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:31609600-31621600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:31609600-31623000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:31609600-31623000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr22:31609600-31623400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr22:31609600-31624000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:31609600-31624800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr22:31609600-31625000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:31609600-31625400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr22:31609600-31625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:31609600-31627200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr22:31609600-31639200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr22:31609800-31621400	Weak transcription	Dnd41	blood
20	chr22:31609800-31621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:31609800-31629400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:31610000-31621600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr22:31610600-31621000	Enhancers	Pancreas	Pancrea
24	chr22:31611800-31620800	Weak transcription	Fetal Stomach	stomach
25	chr22:31612400-31622800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr22:31612600-31621800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:31613800-31622800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr22:31614000-31626600	Weak transcription	Fetal Heart	heart
29	chr22:31614400-31625200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr22:31614600-31621600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:31614800-31625200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr22:31615000-31625000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:31615000-31625000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr22:31615000-31626400	Weak transcription	Fetal Kidney	kidney
35	chr22:31615200-31621400	Weak transcription	HUVEC	blood vessel
36	chr22:31615200-31623000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:31615200-31625200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr22:31615200-31625200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr22:31615200-31625200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr22:31615200-31625200	Weak transcription	Left Ventricle	heart
41	chr22:31615200-31625200	Weak transcription	NHDF-Ad	bronchial
42	chr22:31615200-31625400	Weak transcription	Esophagus	oesophagus
43	chr22:31615200-31626200	Weak transcription	HSMMtube	muscle
44	chr22:31615200-31629000	Weak transcription	NH-A	brain
45	chr22:31615400-31621600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:31615400-31621600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:31615600-31625400	Weak transcription	NHEK	skin
48	chr22:31616000-31621600	Weak transcription	Thymus	Thymus
49	chr22:31616200-31620600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr22:31616200-31625000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links