Variant report

Variant	rs2018292
Chromosome Location	chr22:34250471-34250472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:34248240..34252170-chr22:34315347..34319641,4	MCF-7	breast:
2	chr22:34248614..34251924-chr22:34259957..34262591,3	MCF-7	breast:
3	chr22:34246562..34250566-chr22:34253925..34258689,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273082	Chromatin interaction
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1009730	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13056358	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13057617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13058568	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1547409	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1807710	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34780334	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35709129	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs496956	1.00[CHB][hapmap]
rs8138735	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9607079	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9607080	1.00[CHB][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9607086	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9609876	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9609877	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9609878	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9609879	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9609881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9609882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9609883	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv524156	chr22:34145596-34260738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv529886	chr22:34153740-34258847	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34243200-34250800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr22:34247800-34263000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:34248000-34250600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr22:34249000-34250600	Enhancers	Primary B cells from peripheral blood	blood
5	chr22:34249200-34250600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:34249200-34250600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:34249200-34250600	Active TSS	A549	lung
8	chr22:34249200-34251600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr22:34249400-34250600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:34249400-34250600	Active TSS	HMEC	breast
11	chr22:34249600-34250600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:34249600-34250600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:34249600-34250600	Active TSS	HSMM	muscle
14	chr22:34249600-34250600	Active TSS	Osteobl	bone
15	chr22:34249800-34250600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr22:34249800-34250600	Active TSS	NH-A	brain
17	chr22:34250000-34250600	Enhancers	Stomach Mucosa	stomach
18	chr22:34250000-34250800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:34250000-34250800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr22:34250000-34250800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr22:34250000-34250800	Weak transcription	Small Intestine	intestine
22	chr22:34250000-34251000	Enhancers	Fetal Heart	heart
23	chr22:34250000-34251000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr22:34250000-34254000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:34250000-34254000	Weak transcription	Spleen	Spleen
26	chr22:34250000-34256600	Weak transcription	Lung	lung
27	chr22:34250000-34256600	Weak transcription	Pancreas	Pancrea
28	chr22:34250000-34256800	Weak transcription	Gastric	stomach
29	chr22:34250000-34260400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:34250000-34261000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr22:34250200-34250600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:34250200-34250600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr22:34250200-34250600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr22:34250200-34250600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr22:34250200-34250600	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr22:34250200-34250600	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr22:34250200-34250600	Enhancers	Colon Smooth Muscle	Colon
38	chr22:34250200-34250600	Enhancers	Fetal Intestine Small	intestine
39	chr22:34250200-34250600	Weak transcription	Left Ventricle	heart
40	chr22:34250200-34250600	Enhancers	HSMMtube	muscle
41	chr22:34250200-34250800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:34250200-34250800	Weak transcription	Esophagus	oesophagus
43	chr22:34250200-34250800	Enhancers	Fetal Brain Male	brain
44	chr22:34250200-34250800	Weak transcription	Fetal Brain Female	brain
45	chr22:34250200-34250800	Weak transcription	Psoas Muscle	Psoas
46	chr22:34250200-34251000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr22:34250200-34251000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr22:34250200-34251000	Enhancers	Liver	Liver
49	chr22:34250200-34251000	Enhancers	Brain Angular Gyrus	brain
50	chr22:34250200-34251000	Enhancers	Fetal Intestine Large	intestine

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