Variant report

Variant	rs4615
Chromosome Location	chr22:31677744-31677745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31675823..31681003-chr22:31682955..31686672,6	MCF-7	breast:
2	chr22:31653707..31656305-chr22:31675545..31677942,2	K562	blood:
3	chr22:31677171..31679291-chr22:31685121..31687436,2	K562	blood:
4	chr22:31676896..31678671-chr22:31685121..31687949,2	K562	blood:
5	chr22:31671853..31673887-chr22:31677470..31679780,2	MCF-7	breast:
6	chr22:31675502..31680244-chr22:31686864..31689429,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100100	Chromatin interaction
ENSG00000182541	Chromatin interaction
ENSG00000228839	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1005624	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1034587	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10428007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11089491	0.83[ASN][1000 genomes]
rs12106582	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12627805	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12627941	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12628752	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17220369	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2027982	0.91[JPT][hapmap]
rs2072193	0.81[JPT][hapmap]
rs2073858	0.84[ASN][1000 genomes]
rs2074735	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2239905	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2239906	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2267169	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2267170	0.88[ASN][1000 genomes]
rs2267171	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2283878	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]
rs2283880	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2413041	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28709894	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34184692	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3761431	0.82[CHB][hapmap]
rs3788428	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs4561750	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4645077	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4820040	0.89[EUR][1000 genomes]
rs4820949	0.87[AMR][1000 genomes]
rs4820952	0.83[ASN][1000 genomes]
rs4820964	0.84[ASN][1000 genomes]
rs4820965	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55737363	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55900008	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5749226	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5749231	0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs5749232	0.82[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749237	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs5753488	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753499	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5753518	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.94[ASN][1000 genomes]
rs5753528	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753531	0.89[ASN][1000 genomes]
rs5753550	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753559	0.91[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap]
rs5753560	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753573	0.94[EUR][1000 genomes]
rs5753577	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5997898	0.91[JPT][hapmap]
rs5997940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs61006749	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62236175	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62237396	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62237398	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62237399	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62237400	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62237404	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62237436	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68136222	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72617294	0.85[ASN][1000 genomes]
rs72617295	0.89[ASN][1000 genomes]
rs73158522	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs737809	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs886074	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9609263	0.87[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4615	UTS2	trans	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31650200-31679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:31652800-31679400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr22:31654000-31680400	Strong transcription	Lung	lung
4	chr22:31654000-31685600	Strong transcription	Fetal Stomach	stomach
5	chr22:31654200-31680200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:31654200-31680400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr22:31654400-31679600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr22:31655400-31680800	Weak transcription	K562	blood
9	chr22:31657800-31681200	Strong transcription	Adipose Nuclei	Adipose
10	chr22:31659000-31685600	Weak transcription	Psoas Muscle	Psoas
11	chr22:31659400-31678600	Strong transcription	Fetal Muscle Leg	muscle
12	chr22:31661400-31677800	Weak transcription	A549	lung
13	chr22:31665600-31679400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:31665800-31678800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr22:31666000-31682600	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr22:31666000-31684200	Strong transcription	Aorta	Aorta
17	chr22:31667000-31684600	Weak transcription	Right Atrium	heart
18	chr22:31668400-31681200	Strong transcription	NHLF	lung
19	chr22:31668800-31680400	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr22:31669000-31678800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr22:31669000-31679400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr22:31669000-31680200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:31669000-31680400	Strong transcription	Brain Anterior Caudate	brain
24	chr22:31669000-31682200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr22:31669000-31682400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr22:31669000-31685600	Weak transcription	Fetal Brain Male	brain
27	chr22:31669000-31686000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:31669200-31682600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr22:31669400-31679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:31669600-31680400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr22:31670000-31680600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr22:31670600-31681000	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr22:31671200-31684600	Weak transcription	Fetal Heart	heart
34	chr22:31671400-31677800	Weak transcription	Ovary	ovary
35	chr22:31671400-31679200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr22:31671400-31680200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr22:31671600-31679400	Strong transcription	Fetal Intestine Large	intestine
38	chr22:31671600-31679600	Strong transcription	Fetal Intestine Small	intestine
39	chr22:31671600-31681200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr22:31671800-31681000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr22:31671800-31686200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr22:31672000-31678000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr22:31672000-31680400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:31672600-31685600	Strong transcription	Brain Germinal Matrix	brain
45	chr22:31672800-31680600	Strong transcription	Primary B cells from cord blood	blood
46	chr22:31673000-31681800	Strong transcription	Placenta	Placenta
47	chr22:31673600-31679400	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr22:31673800-31679000	Genic enhancers	Fetal Thymus	thymus
49	chr22:31673800-31679400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr22:31673800-31680200	Strong transcription	Brain Substantia Nigra	brain

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