Variant report

Variant	rs55899338
Chromosome Location	chr2:184180754-184180755
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	chr2:184179313..184181049-chr2:184186553..184189132,2	K562	blood:
2	chr2:184167829..184169684-chr2:184179088..184180846,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11903398	0.94[ASN][1000 genomes]
rs16824254	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16824255	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58019122	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59508255	1.00[EUR][1000 genomes]
rs61088254	1.00[EUR][1000 genomes]
rs61138483	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73977884	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73977891	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73980603	0.93[AMR][1000 genomes]
rs7573026	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1014807	chr2:184123737-184181052	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184178600-184181400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:184179600-184181600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:184179800-184181200	Enhancers	HSMM	muscle
4	chr2:184179800-184182200	Enhancers	NHEK	skin
5	chr2:184180000-184181200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:184180000-184181600	Enhancers	NH-A	brain
7	chr2:184180200-184180800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:184180200-184180800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:184180200-184181000	Flanking Active TSS	HUVEC	blood vessel
10	chr2:184180200-184181400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:184180200-184181400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:184180200-184181400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:184180200-184181400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:184180200-184181400	Enhancers	HMEC	breast
15	chr2:184180200-184181400	Enhancers	HSMMtube	muscle
16	chr2:184180200-184181400	Enhancers	Osteobl	bone
17	chr2:184180400-184180800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:184180600-184180800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:184180600-184180800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:184180600-184181000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:184180600-184181400	Enhancers	NHDF-Ad	bronchial

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