Variant report

Variant	rs10079447
Chromosome Location	chr5:106714738-106714739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13360970	1.00[EUR][1000 genomes]
rs56001301	1.00[EUR][1000 genomes]
rs73194948	1.00[EUR][1000 genomes]
rs73194950	1.00[EUR][1000 genomes]
rs73777839	1.00[EUR][1000 genomes]
rs73777845	1.00[EUR][1000 genomes]
rs73777846	1.00[EUR][1000 genomes]
rs9328000	1.00[EUR][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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106700600-106720000	Weak transcription	Aorta	Aorta
2	chr5:106703400-106715800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:106704200-106716800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:106704400-106715800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:106704600-106717000	Weak transcription	Fetal Brain Female	brain
6	chr5:106704600-106722800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:106704800-106714800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:106707000-106716400	Weak transcription	Psoas Muscle	Psoas
9	chr5:106707000-106716800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:106708800-106715800	Weak transcription	Fetal Stomach	stomach
11	chr5:106708800-106724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:106709400-106714800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:106710000-106714800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:106710000-106714800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:106710400-106715200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:106711400-106723600	Weak transcription	Fetal Kidney	kidney
17	chr5:106712200-106717000	Weak transcription	Fetal Heart	heart
18	chr5:106712400-106715000	Enhancers	HMEC	breast
19	chr5:106712800-106717200	Enhancers	HSMM	muscle
20	chr5:106713000-106715800	Weak transcription	Fetal Lung	lung
21	chr5:106713000-106716800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:106713000-106716800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:106713000-106717200	Weak transcription	NHLF	lung
24	chr5:106713000-106722800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:106713000-106723200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:106713200-106715600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:106713200-106715800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:106713200-106715800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:106713200-106716200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:106713200-106716200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:106713200-106716400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:106713400-106720800	Weak transcription	Gastric	stomach
33	chr5:106713600-106716400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:106713600-106717200	Weak transcription	Brain Germinal Matrix	brain
35	chr5:106713800-106714800	Weak transcription	Esophagus	oesophagus
36	chr5:106713800-106724000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:106714000-106715000	Enhancers	HSMMtube	muscle
38	chr5:106714000-106715000	Enhancers	NHDF-Ad	bronchial
39	chr5:106714000-106716800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:106714200-106715000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:106714200-106715000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:106714200-106715000	Enhancers	Osteobl	bone
43	chr5:106714200-106716200	Weak transcription	Stomach Mucosa	stomach
44	chr5:106714200-106717200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr5:106714200-106723200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:106714200-106723400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:106714400-106715000	Enhancers	NH-A	brain
48	chr5:106714400-106715000	Enhancers	NHEK	skin
49	chr5:106714400-106715600	Enhancers	A549	lung
50	chr5:106714400-106716200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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