Variant report

Variant	rs10057729
Chromosome Location	chr5:112518340-112518341
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112365166..112368140-chr5:112517224..112519156,2	K562	blood:
2	chr5:112509608..112512785-chr5:112516930..112518881,3	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11952815	0.87[CEU][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes]
rs13153785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1345077	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs1348431	1.00[JPT][hapmap]
rs55917784	0.89[EUR][1000 genomes]
rs58899107	0.87[EUR][1000 genomes]
rs7717494	0.84[EUR][1000 genomes]
rs7718971	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112500800-112518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:112504800-112525600	Weak transcription	Esophagus	oesophagus
3	chr5:112505800-112521400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:112506400-112521600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:112507000-112526000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:112512600-112521400	Weak transcription	Brain Angular Gyrus	brain
7	chr5:112512800-112518400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:112513000-112521400	Weak transcription	NHEK	skin
9	chr5:112514200-112518600	Weak transcription	Right Atrium	heart
10	chr5:112514400-112530600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:112515000-112522200	Weak transcription	Adipose Nuclei	Adipose
12	chr5:112515200-112521600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:112515200-112526400	Weak transcription	Lung	lung
14	chr5:112515400-112521400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:112515600-112518800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:112515600-112519200	Enhancers	Fetal Heart	heart
17	chr5:112515600-112519400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:112515600-112521000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:112515600-112521400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:112515600-112521800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:112515600-112521800	Weak transcription	Liver	Liver
22	chr5:112515800-112521000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:112515800-112521800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:112515800-112530200	Weak transcription	Psoas Muscle	Psoas
25	chr5:112515800-112538000	Weak transcription	Fetal Kidney	kidney
26	chr5:112516000-112518400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:112516000-112521200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:112516000-112521400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:112516000-112521800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:112516200-112521000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:112516400-112524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:112517000-112521400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:112517200-112518600	Enhancers	Dnd41	blood
34	chr5:112517400-112519600	Enhancers	Left Ventricle	heart
35	chr5:112517600-112518400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:112517600-112518600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr5:112517600-112525000	Enhancers	Ovary	ovary
38	chr5:112517800-112518400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:112518000-112519200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:112518000-112519200	Weak transcription	Right Ventricle	heart
41	chr5:112518000-112519400	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:112518200-112519000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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