Variant report

Variant	rs11952116
Chromosome Location	chr5:112570730-112570731
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr5:112570179-112570733	HEK293-T-REx	kidney:	n/a	n/a

Variant related genes	Relation type
MCC	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11948187	0.85[AMR][1000 genomes]
rs11948413	0.85[AMR][1000 genomes]
rs11948437	0.85[AMR][1000 genomes]
rs11948446	0.85[AMR][1000 genomes]
rs11948830	0.85[AMR][1000 genomes]
rs11949669	0.85[AMR][1000 genomes]
rs11953906	0.85[AMR][1000 genomes]
rs11954798	0.85[AMR][1000 genomes]
rs11955591	0.85[AMR][1000 genomes]
rs11956234	0.85[AMR][1000 genomes]
rs11956430	1.00[EUR][1000 genomes]
rs11959955	0.85[AMR][1000 genomes]
rs1318772	1.00[MEX][hapmap]
rs34086862	0.85[AMR][1000 genomes]
rs57113080	1.00[EUR][1000 genomes]
rs61341835	0.85[AMR][1000 genomes]
rs7722776	1.00[EUR][1000 genomes]
rs7731164	0.85[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	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
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
2	chr5:112557200-112585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:112559000-112571200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:112561600-112575000	Weak transcription	Right Ventricle	heart
5	chr5:112565400-112572000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:112566200-112572400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:112566400-112571000	Enhancers	Adipose Nuclei	Adipose
8	chr5:112566400-112571200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:112566400-112572400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:112566400-112574000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:112567200-112571000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:112567200-112572400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:112567200-112572400	Enhancers	NHEK	skin
14	chr5:112567400-112571200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:112567400-112572800	Enhancers	Stomach Mucosa	stomach
16	chr5:112567400-112573200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:112567800-112570800	Enhancers	Ovary	ovary
18	chr5:112568000-112571000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:112568400-112572400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:112568600-112575000	Weak transcription	Left Ventricle	heart
21	chr5:112568800-112572200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:112568800-112572600	Weak transcription	Psoas Muscle	Psoas
23	chr5:112568800-112573000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:112568800-112575200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:112569000-112575400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:112569000-112577800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:112569200-112571200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:112569400-112571400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:112569400-112573400	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:112569600-112570800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:112569600-112572400	Weak transcription	Fetal Brain Male	brain
32	chr5:112569600-112574000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:112569600-112575400	Weak transcription	Fetal Brain Female	brain
34	chr5:112569800-112572200	Weak transcription	Fetal Lung	lung
35	chr5:112569800-112573200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr5:112570000-112572200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr5:112570000-112574000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:112570200-112570800	Enhancers	Fetal Muscle Leg	muscle
39	chr5:112570200-112570800	Enhancers	Right Atrium	heart
40	chr5:112570200-112572600	Enhancers	HMEC	breast
41	chr5:112570200-112573600	Weak transcription	Fetal Stomach	stomach
42	chr5:112570200-112574000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr5:112570200-112576200	Enhancers	Fetal Heart	heart
44	chr5:112570400-112570800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:112570400-112571400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:112570400-112571800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:112570400-112572400	Enhancers	Liver	Liver
48	chr5:112570600-112570800	Enhancers	Esophagus	oesophagus
49	chr5:112570600-112570800	Enhancers	Rectal Smooth Muscle	rectum
50	chr5:112570600-112572800	Enhancers	H1 Cell Line	embryonic stem cell

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