Variant report

Variant	rs2072051
Chromosome Location	chr22:29755888-29755889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29707397..29709984-chr22:29754201..29756527,2	MCF-7	breast:
2	chr22:29749186..29751153-chr22:29753987..29756178,2	K562	blood:
3	chr22:29664917..29667289-chr22:29754288..29755924,2	MCF-7	breast:
4	chr22:29701853..29704489-chr22:29754340..29756996,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction
ENSG00000185340	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11090564	0.93[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs131180	0.83[ASN][1000 genomes]
rs131189	0.80[ASN][1000 genomes]
rs140062	0.88[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.83[ASN][1000 genomes]
rs140063	0.83[ASN][1000 genomes]
rs140066	0.83[ASN][1000 genomes]
rs174759	0.85[ASN][1000 genomes]
rs174761	0.87[CHB][hapmap];0.94[CHD][hapmap];0.80[GIH][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs174762	0.88[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap]
rs174764	1.00[ASW][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs174765	0.86[ASN][1000 genomes]
rs174766	0.92[ASW][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs174767	0.80[ASN][1000 genomes]
rs174769	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174770	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs174771	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs174775	0.92[CEU][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2071578	0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.80[MEX][hapmap];0.91[ASN][1000 genomes]
rs2267132	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs2267133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap]
rs2267135	0.84[JPT][hapmap]
rs2267137	0.95[EUR][1000 genomes]
rs2283849	0.88[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2283850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301290	0.88[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap]
rs2301585	0.88[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2857462	0.81[ASN][1000 genomes]
rs28755	0.87[ASN][1000 genomes]
rs3788410	0.93[ASW][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.91[YRI][hapmap]
rs3788411	0.88[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4034938	0.82[JPT][hapmap]
rs4820803	0.88[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs4820804	0.88[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap]
rs5752903	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763138	0.88[CHB][hapmap];0.84[CHD][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs5763139	0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5763178	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763190	0.84[JPT][hapmap]
rs6006090	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs6006098	0.88[CHB][hapmap];0.89[CHD][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs715494	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs879580	0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs9537	0.88[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap]
rs98069	0.88[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv966099	chr22:29755726-29762172	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv914961	chr22:29755888-29817506	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv914962	chr22:29755888-29823768	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29721800-29756800	Strong transcription	Primary T cells from cord blood	blood
2	chr22:29722000-29759200	Strong transcription	Dnd41	blood
3	chr22:29722000-29759800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:29722200-29756400	Strong transcription	Thymus	Thymus
5	chr22:29722200-29756600	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr22:29722200-29759800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr22:29722400-29756800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr22:29722400-29758400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr22:29722600-29756000	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr22:29722600-29757200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr22:29722600-29758000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr22:29722600-29758800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr22:29723000-29758800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr22:29723000-29765000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr22:29725400-29756200	Strong transcription	Primary B cells from cord blood	blood
16	chr22:29727400-29756200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29728000-29756200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:29739000-29762800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr22:29739800-29757200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr22:29740200-29756400	Strong transcription	Fetal Thymus	thymus
21	chr22:29740600-29759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:29740800-29756000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:29740800-29759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:29741000-29782800	Weak transcription	Hela-S3	cervix
25	chr22:29741800-29756200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:29741800-29757200	Strong transcription	Primary hematopoietic stem cells	blood
27	chr22:29741800-29760200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr22:29742000-29756000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr22:29742000-29756000	Strong transcription	NHEK	skin
30	chr22:29742000-29757000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr22:29742200-29756200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr22:29742200-29756200	Strong transcription	Lung	lung
33	chr22:29742400-29756000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr22:29743200-29756000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr22:29743600-29756000	Strong transcription	Brain Germinal Matrix	brain
36	chr22:29744000-29756600	Strong transcription	Fetal Brain Female	brain
37	chr22:29745000-29765200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr22:29745600-29763400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr22:29747800-29756000	Strong transcription	Pancreas	Pancrea
40	chr22:29749200-29756000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:29750400-29756200	Strong transcription	Brain Anterior Caudate	brain
42	chr22:29750600-29765200	Weak transcription	NHDF-Ad	bronchial
43	chr22:29750600-29766800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr22:29750800-29760000	Weak transcription	K562	blood
45	chr22:29750800-29764400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr22:29752000-29756400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr22:29753000-29777600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr22:29754000-29756000	Strong transcription	HMEC	breast
49	chr22:29754000-29756000	Strong transcription	NHLF	lung
50	chr22:29754000-29756200	Strong transcription	H9 Cell Line	embryonic stem cell

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