Variant report

Variant	rs2283959
Chromosome Location	chr22:34291465-34291466
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34262180..34264985-chr22:34291444..34294296,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1005679	1.00[CHB][hapmap]
rs1005680	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16993248	1.00[CHB][hapmap]
rs2157153	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2213360	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267312	1.00[CHB][hapmap]
rs2267313	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2267314	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2267315	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267316	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2283957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2283958	1.00[CHB][hapmap]
rs2413206	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2413207	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3919426	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754739	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs5754746	0.81[AMR][1000 genomes]
rs5754748	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5754752	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs738987	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs738989	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs933215	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv588938	chr22:34270568-34307875	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34273200-34292200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr22:34280000-34292200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr22:34280800-34293200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:34283000-34292000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:34285000-34292400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr22:34286000-34291800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr22:34286400-34292200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr22:34286400-34296600	Weak transcription	Adipose Nuclei	Adipose
9	chr22:34287400-34294400	Weak transcription	Fetal Brain Male	brain
10	chr22:34287800-34298600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr22:34287800-34299000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr22:34288200-34295000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr22:34288200-34303000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:34288600-34293000	Weak transcription	Fetal Lung	lung
15	chr22:34288800-34292400	Weak transcription	Ovary	ovary
16	chr22:34288800-34292800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr22:34289800-34291800	Enhancers	Left Ventricle	heart
18	chr22:34289800-34292000	Enhancers	Gastric	stomach
19	chr22:34289800-34296400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:34289800-34299200	Enhancers	Right Ventricle	heart
21	chr22:34290000-34291800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr22:34290000-34292800	Weak transcription	Stomach Mucosa	stomach
23	chr22:34290200-34292600	Weak transcription	Small Intestine	intestine
24	chr22:34290200-34303800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:34290600-34291600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr22:34290800-34291600	Enhancers	GM12878-XiMat	blood
27	chr22:34290800-34292200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:34290800-34292400	Weak transcription	Right Atrium	heart
29	chr22:34291000-34293400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr22:34291000-34304200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:34291200-34291800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr22:34291200-34291800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr22:34291200-34291800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr22:34291200-34292000	Weak transcription	Fetal Heart	heart
35	chr22:34291200-34292400	Weak transcription	Colon Smooth Muscle	Colon
36	chr22:34291200-34292600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr22:34291200-34292800	Weak transcription	Esophagus	oesophagus
38	chr22:34291200-34293200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:34291200-34293400	Weak transcription	Pancreas	Pancrea
40	chr22:34291200-34295600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr22:34291200-34304200	Weak transcription	Brain Anterior Caudate	brain
42	chr22:34291200-34312800	Weak transcription	HepG2	liver
43	chr22:34291400-34291600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr22:34291400-34291800	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr22:34291400-34292400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
46	chr22:34291400-34294000	Weak transcription	Psoas Muscle	Psoas

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