Variant report

Variant	rs2018285
Chromosome Location	chr22:34250366-34250367
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: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10854636	0.91[ASN][1000 genomes]
rs10854637	0.91[ASN][1000 genomes]
rs10854638	0.89[CHB][hapmap];0.91[ASN][1000 genomes]
rs10854639	0.91[ASN][1000 genomes]
rs10854640	0.91[ASN][1000 genomes]
rs12159281	0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs12159435	0.95[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs16993156	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17809399	0.91[CHB][hapmap];0.91[ASN][1000 genomes]
rs2253063	0.95[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2267307	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs2283952	0.95[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5749679	0.94[CEU][hapmap];0.83[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5749680	0.96[EUR][1000 genomes]
rs5749682	0.94[CEU][hapmap];0.83[CHB][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5754714	0.94[CEU][hapmap];0.83[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5754715	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5754716	0.94[CEU][hapmap];0.83[CHB][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5754717	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5999123	0.91[CHB][hapmap];0.94[ASN][1000 genomes]
rs5999124	0.88[ASN][1000 genomes]
rs738949	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][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:92 , 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	chr22:34247400-34250400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr22:34247800-34263000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:34248000-34250600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr22:34249000-34250600	Enhancers	Primary B cells from peripheral blood	blood
6	chr22:34249200-34250400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:34249200-34250400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:34249200-34250400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr22:34249200-34250400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr22:34249200-34250600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:34249200-34250600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:34249200-34250600	Active TSS	A549	lung
13	chr22:34249200-34251600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr22:34249400-34250400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:34249400-34250400	Active TSS	Aorta	Aorta
16	chr22:34249400-34250400	Active TSS	Ovary	ovary
17	chr22:34249400-34250400	Active TSS	NHDF-Ad	bronchial
18	chr22:34249400-34250600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:34249400-34250600	Active TSS	HMEC	breast
20	chr22:34249600-34250400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:34249600-34250400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr22:34249600-34250400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr22:34249600-34250400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr22:34249600-34250400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr22:34249600-34250400	Active TSS	Brain Cingulate Gyrus	brain
26	chr22:34249600-34250400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr22:34249600-34250600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:34249600-34250600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:34249600-34250600	Active TSS	HSMM	muscle
30	chr22:34249600-34250600	Active TSS	Osteobl	bone
31	chr22:34249800-34250400	Active TSS	Muscle Satellite Cultured Cells	--
32	chr22:34249800-34250400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:34249800-34250400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr22:34249800-34250400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr22:34249800-34250400	Active TSS	Brain Substantia Nigra	brain
36	chr22:34249800-34250400	Active TSS	Duodenum Mucosa	Duodenum
37	chr22:34249800-34250400	Active TSS	Right Atrium	heart
38	chr22:34249800-34250400	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr22:34249800-34250400	Active TSS	GM12878-XiMat	blood
40	chr22:34249800-34250400	Active TSS	NHLF	lung
41	chr22:34249800-34250600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:34249800-34250600	Active TSS	NH-A	brain
43	chr22:34250000-34250600	Enhancers	Stomach Mucosa	stomach
44	chr22:34250000-34250800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:34250000-34250800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr22:34250000-34250800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr22:34250000-34250800	Weak transcription	Small Intestine	intestine
48	chr22:34250000-34251000	Enhancers	Fetal Heart	heart
49	chr22:34250000-34251000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr22:34250000-34254000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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