Variant report

Variant	rs72894151
Chromosome Location	chr2:173818998-173818999
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	chr2:173818940..173821584-chr2:173840789..173843259,2	K562	blood:
2	chr2:173818468..173819994-chr2:173826020..173827829,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10497387	0.80[AMR][1000 genomes]
rs10754979	1.00[ASN][1000 genomes]
rs12465032	1.00[ASN][1000 genomes]
rs12619862	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12986507	1.00[ASN][1000 genomes]
rs13023047	0.82[ASN][1000 genomes]
rs16861062	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17707776	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974922	1.00[ASN][1000 genomes]
rs3769245	0.80[AMR][1000 genomes]
rs4972519	1.00[ASN][1000 genomes]
rs62174630	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62174645	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72894145	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745288	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3365781	chr2:173817156-173819254	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173800600-173829400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:173807800-173831600	Weak transcription	Left Ventricle	heart
3	chr2:173816600-173820200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:173816600-173831800	Weak transcription	Lung	lung
5	chr2:173816800-173821600	Weak transcription	Fetal Thymus	thymus
6	chr2:173817000-173820200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:173817200-173821600	Weak transcription	Thymus	Thymus
8	chr2:173817400-173819000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:173818200-173819800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:173818200-173819800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:173818200-173820000	Enhancers	Osteobl	bone
12	chr2:173818400-173819200	Enhancers	NHLF	lung
13	chr2:173818400-173819600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:173818400-173819800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:173818400-173819800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:173818400-173819800	Enhancers	NHEK	skin
17	chr2:173818400-173820000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:173818400-173820000	Bivalent Enhancer	NHDF-Ad	bronchial
19	chr2:173818400-173820200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:173818600-173819000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:173818600-173819000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:173818600-173819400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:173818600-173819800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:173818600-173819800	Enhancers	NH-A	brain
25	chr2:173818600-173820000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:173818800-173819000	Enhancers	Hela-S3	cervix
27	chr2:173818800-173819200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:173818800-173820400	Weak transcription	H9 Cell Line	embryonic stem cell

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