Variant report

Variant	rs2267171
Chromosome Location	chr22:31649632-31649633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31647946..31651583-chr22:31664654..31669307,6	MCF-7	breast:
2	chr22:31646269..31648864-chr22:31648933..31651517,2	K562	blood:
3	chr22:31649511..31653218-chr22:31654598..31656473,4	K562	blood:
4	chr22:31641781..31645850-chr22:31646160..31651289,6	K562	blood:
5	chr22:31636927..31638893-chr22:31647467..31649830,2	K562	blood:
6	chr22:31642735..31647195-chr22:31648732..31652815,10	MCF-7	breast:
7	chr22:31638486..31641770-chr22:31648359..31651632,4	MCF-7	breast:
8	chr22:31635703..31637770-chr22:31648777..31650982,3	MCF-7	breast:
9	chr22:31647158..31653046-chr22:31656106..31660182,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1005624	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1034587	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10428007	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089491	0.89[ASN][1000 genomes]
rs12106582	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12627805	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12627941	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12628752	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17220369	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];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];0.81[JPT][hapmap]
rs2239905	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239906	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[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]
rs2283878	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[CEU][hapmap];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];0.95[ASN][1000 genomes]
rs28514306	0.82[ASN][1000 genomes]
rs28709894	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34184692	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4615	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]
rs4645077	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4820040	0.89[EUR][1000 genomes]
rs4820949	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4820952	0.88[ASN][1000 genomes]
rs4820964	0.88[ASN][1000 genomes]
rs4820965	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55737363	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55900008	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749226	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749231	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs5749232	0.82[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749237	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs5749244	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753499	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5753518	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs5753528	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753531	0.93[ASN][1000 genomes]
rs5753550	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753551	1.00[CEU][hapmap];0.95[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]
rs5753559	0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap]
rs5753560	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753573	0.94[EUR][1000 genomes]
rs5753577	0.93[AMR][1000 genomes];0.89[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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62236175	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62237396	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62237398	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62237399	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62237400	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62237404	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62237436	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68136222	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72617294	0.91[ASN][1000 genomes]
rs72617295	0.95[ASN][1000 genomes]
rs73158522	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737809	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][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
rs2267171	UTS2	trans	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31644200-31649800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:31644200-31665800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr22:31644600-31649800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr22:31644600-31650400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr22:31644600-31654200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr22:31644600-31654200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr22:31644600-31654400	Weak transcription	K562	blood
8	chr22:31644600-31658000	Weak transcription	Psoas Muscle	Psoas
9	chr22:31644600-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr22:31644800-31650000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:31644800-31650000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr22:31644800-31650200	Genic enhancers	HepG2	liver
13	chr22:31644800-31650800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr22:31644800-31654400	Weak transcription	Liver	Liver
15	chr22:31644800-31654800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr22:31645000-31650000	Weak transcription	Fetal Thymus	thymus
17	chr22:31645000-31654200	Weak transcription	Fetal Brain Female	brain
18	chr22:31645000-31654400	Weak transcription	Brain Germinal Matrix	brain
19	chr22:31645000-31668400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr22:31645000-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr22:31645000-31677600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:31645200-31654400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr22:31645200-31654800	Weak transcription	Fetal Lung	lung
24	chr22:31645200-31667000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr22:31645400-31650000	Weak transcription	Colonic Mucosa	Colon
26	chr22:31645400-31650000	Weak transcription	Spleen	Spleen
27	chr22:31645400-31654000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr22:31645400-31654000	Weak transcription	Dnd41	blood
29	chr22:31645400-31654200	Weak transcription	Brain Angular Gyrus	brain
30	chr22:31645400-31661800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr22:31645600-31654400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr22:31645600-31654600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr22:31645800-31649800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:31645800-31650000	Weak transcription	Fetal Heart	heart
35	chr22:31645800-31650000	Weak transcription	Thymus	Thymus
36	chr22:31645800-31651400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr22:31645800-31654000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr22:31645800-31654000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr22:31645800-31654200	Weak transcription	Colon Smooth Muscle	Colon
40	chr22:31645800-31654400	Weak transcription	NHLF	lung
41	chr22:31645800-31654600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr22:31645800-31654800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr22:31646000-31649800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:31646000-31654200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr22:31646400-31649800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr22:31646400-31654200	Weak transcription	Brain Hippocampus Middle	brain
47	chr22:31646400-31654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr22:31646600-31651000	Weak transcription	HSMM	muscle
49	chr22:31646600-31654200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:31646600-31654200	Weak transcription	Ovary	ovary

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