Variant report

Variant	rs2008329
Chromosome Location	chr22:27904819-27904820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:27895685..27897501-chr22:27903630..27905195,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10427806	1.00[EUR][1000 genomes]
rs11913376	1.00[AMR][1000 genomes]
rs12159414	1.00[EUR][1000 genomes]
rs12165696	1.00[EUR][1000 genomes]
rs137145	1.00[EUR][1000 genomes]
rs16984497	1.00[EUR][1000 genomes]
rs16984534	1.00[EUR][1000 genomes]
rs16984627	1.00[EUR][1000 genomes]
rs16984638	1.00[EUR][1000 genomes]
rs16985163	1.00[AMR][1000 genomes]
rs2065061	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs520634	1.00[CEU][hapmap]
rs521076	1.00[CEU][hapmap]
rs5752574	1.00[EUR][1000 genomes]
rs5762216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5762219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5762223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5997259	1.00[EUR][1000 genomes]
rs6005462	1.00[EUR][1000 genomes]
rs6005466	1.00[EUR][1000 genomes]
rs6005472	1.00[EUR][1000 genomes]
rs6005473	1.00[EUR][1000 genomes]
rs6005474	1.00[EUR][1000 genomes]
rs6005475	1.00[EUR][1000 genomes]
rs6005478	1.00[EUR][1000 genomes]
rs60298679	1.00[EUR][1000 genomes]
rs73417186	1.00[EUR][1000 genomes]
rs738564	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27899800-27907800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:27900000-27905800	Enhancers	Psoas Muscle	Psoas
3	chr22:27901400-27906400	Weak transcription	Adipose Nuclei	Adipose
4	chr22:27901400-27906400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr22:27901800-27906400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr22:27903000-27906400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:27903200-27906400	Enhancers	Fetal Muscle Leg	muscle
8	chr22:27903200-27908200	Weak transcription	Gastric	stomach
9	chr22:27903400-27905000	Enhancers	HMEC	breast
10	chr22:27903400-27906400	Weak transcription	Right Atrium	heart
11	chr22:27903600-27908200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:27904000-27905000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr22:27904000-27907800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:27904200-27905000	Enhancers	NHEK	skin
15	chr22:27904400-27907200	Enhancers	HSMMtube	muscle
16	chr22:27904400-27907800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:27904400-27908000	Weak transcription	Fetal Stomach	stomach
18	chr22:27904600-27906400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:27904600-27906400	Weak transcription	Aorta	Aorta
20	chr22:27904600-27907000	Weak transcription	HUVEC	blood vessel
21	chr22:27904600-27907600	Weak transcription	NH-A	brain
22	chr22:27904800-27906800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:27904800-27906800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:27904800-27908200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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