Variant report

Variant	rs6862997
Chromosome Location	chr5:112509631-112509632
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	chr5:112509608..112512785-chr5:112516930..112518881,3	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10067575	1.00[AMR][1000 genomes]
rs1345079	1.00[AMR][1000 genomes]
rs1443688	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1443697	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1443698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1584057	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1867326	1.00[AMR][1000 genomes]
rs1982287	1.00[AMR][1000 genomes]
rs2416308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2900068	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2900069	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4235795	1.00[AMR][1000 genomes]
rs55668675	1.00[AMR][1000 genomes]
rs55834943	1.00[AMR][1000 genomes]
rs56096608	1.00[AMR][1000 genomes]
rs57288647	1.00[AMR][1000 genomes]
rs59926560	1.00[AMR][1000 genomes]
rs6594694	1.00[AMR][1000 genomes]
rs6892018	1.00[AMR][1000 genomes]
rs73237148	1.00[AMR][1000 genomes]
rs73239119	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73239122	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73239127	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73239158	1.00[AMR][1000 genomes]
rs73244726	0.81[AFR][1000 genomes]
rs73244727	1.00[AMR][1000 genomes]
rs73244751	1.00[AMR][1000 genomes]
rs73778907	1.00[AMR][1000 genomes]
rs73778912	1.00[AMR][1000 genomes]
rs73778915	1.00[AMR][1000 genomes]
rs73778917	1.00[AMR][1000 genomes]
rs73778920	1.00[AMR][1000 genomes]
rs73778923	1.00[AMR][1000 genomes]
rs73781500	1.00[AMR][1000 genomes]
rs73783203	1.00[AMR][1000 genomes]
rs935164	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112500800-112513800	Weak transcription	Lung	lung
2	chr5:112500800-112518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:112503000-112513600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:112503200-112514000	Weak transcription	Fetal Stomach	stomach
5	chr5:112503600-112510800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:112503800-112514800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:112504400-112512600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:112504800-112525600	Weak transcription	Esophagus	oesophagus
9	chr5:112505400-112512000	Weak transcription	Right Atrium	heart
10	chr5:112505800-112521400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:112506000-112512000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:112506200-112512000	Weak transcription	Liver	Liver
13	chr5:112506200-112512000	Weak transcription	NHEK	skin
14	chr5:112506200-112518200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:112506400-112521600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:112506800-112512000	Weak transcription	Adipose Nuclei	Adipose
17	chr5:112507000-112511000	Weak transcription	Fetal Lung	lung
18	chr5:112507000-112511600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:112507000-112526000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:112507400-112512200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:112507400-112512200	Weak transcription	Psoas Muscle	Psoas
22	chr5:112507600-112512000	Weak transcription	Left Ventricle	heart
23	chr5:112507800-112512000	Weak transcription	Right Ventricle	heart
24	chr5:112507800-112512200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:112508400-112511800	Weak transcription	Ovary	ovary
26	chr5:112508600-112510600	Weak transcription	Fetal Heart	heart
27	chr5:112509000-112509800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:112509200-112509800	Enhancers	Fetal Kidney	kidney

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