Variant report

Variant	rs28730957
Chromosome Location	chr2:182640173-182640174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182637961..182640711-chr2:182640767..182642873,2	MCF-7	breast:
2	chr2:182637643..182640339-chr2:182643105..182646087,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10173295	1.00[AMR][1000 genomes]
rs10178791	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10183369	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11884484	1.00[AMR][1000 genomes]
rs11884530	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898883	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11904481	1.00[AMR][1000 genomes]
rs13385387	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412336	1.00[AMR][1000 genomes]
rs13415704	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56043868	1.00[AMR][1000 genomes]
rs59024368	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59405729	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73030974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73030984	1.00[AMR][1000 genomes]
rs9288070	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288071	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288072	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9630973	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9630988	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182636400-182645800	Weak transcription	Pancreas	Pancrea
2	chr2:182636600-182640600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:182638600-182640200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr2:182638600-182643400	Weak transcription	Placenta	Placenta
5	chr2:182639200-182640200	Enhancers	Hela-S3	cervix
6	chr2:182639200-182644000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:182639600-182641200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:182639600-182643400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:182639800-182640200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:182639800-182643200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:182640000-182642200	Weak transcription	NHEK	skin
12	chr2:182640000-182642400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:182640000-182642400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:182640000-182642600	Weak transcription	HMEC	breast
15	chr2:182640000-182643000	Weak transcription	Osteobl	bone
16	chr2:182640000-182643200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:182640000-182643400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:182640000-182643400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:182640000-182643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:182640000-182643400	Weak transcription	NHDF-Ad	bronchial
21	chr2:182640000-182644400	Weak transcription	HSMM	muscle
22	chr2:182640000-182644400	Weak transcription	HSMMtube	muscle
23	chr2:182640000-182645000	Weak transcription	Monocytes-CD14+_RO01746	blood

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