Variant report

Variant	rs13436236
Chromosome Location	chr5:112607965-112607966
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11241197	0.85[JPT][hapmap]
rs11740045	0.93[EUR][1000 genomes]
rs11741794	0.85[JPT][hapmap]
rs11748465	0.85[JPT][hapmap]
rs11748524	0.85[JPT][hapmap]
rs11749864	0.85[JPT][hapmap]
rs12523027	0.85[JPT][hapmap]
rs17135514	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs17135519	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs17135526	0.85[JPT][hapmap]
rs17135534	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17135535	0.80[CEU][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17135542	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17135543	0.80[CEU][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs17135546	0.85[JPT][hapmap]
rs1822488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091803	0.81[AMR][1000 genomes]
rs2091804	0.81[AMR][1000 genomes]
rs2416309	0.81[CEU][hapmap]
rs6888602	0.85[JPT][hapmap]
rs73246648	0.93[EUR][1000 genomes]
rs73246657	0.93[EUR][1000 genomes]
rs73246677	0.93[EUR][1000 genomes]
rs7717906	0.81[CEU][hapmap]
rs7724707	0.85[JPT][hapmap]
rs971370	0.80[CEU][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs971371	0.80[CEU][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs971372	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs971373	0.80[CEU][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs977997	0.80[CEU][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112586600-112623600	Weak transcription	Pancreas	Pancrea
2	chr5:112587600-112617000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:112589200-112610600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:112600200-112618000	Weak transcription	Fetal Kidney	kidney
5	chr5:112600800-112608000	Enhancers	Ovary	ovary
6	chr5:112600800-112610600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:112600800-112610800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:112601000-112612400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:112601400-112611200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr5:112602200-112616600	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:112602600-112609800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:112603000-112608600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:112603000-112611800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:112603000-112616800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:112603200-112610600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:112603400-112608000	Enhancers	HMEC	breast
17	chr5:112603400-112608200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:112603400-112608200	Weak transcription	Adipose Nuclei	Adipose
19	chr5:112603800-112612200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:112604200-112609600	Weak transcription	Right Ventricle	heart
21	chr5:112604200-112610400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:112604200-112610600	Weak transcription	Psoas Muscle	Psoas
23	chr5:112604400-112612600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:112604600-112612600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:112605000-112608600	Enhancers	NH-A	brain
26	chr5:112605000-112609400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:112605000-112611400	Enhancers	HUVEC	blood vessel
28	chr5:112605400-112610400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:112605400-112612400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:112605600-112608000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:112605800-112608000	Weak transcription	Brain Germinal Matrix	brain
32	chr5:112605800-112609400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:112605800-112609600	Weak transcription	Dnd41	blood
34	chr5:112606200-112610600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:112606400-112608400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:112606400-112608400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:112606400-112609600	Weak transcription	Left Ventricle	heart
38	chr5:112606600-112614000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr5:112607000-112608000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr5:112607000-112608400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr5:112607000-112609200	Weak transcription	Fetal Heart	heart
42	chr5:112607000-112610600	Weak transcription	Fetal Stomach	stomach
43	chr5:112607200-112608000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:112607200-112609600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:112607200-112610800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:112607200-112614400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:112607400-112608600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:112607400-112610000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:112607400-112610600	Weak transcription	Liver	Liver
50	chr5:112607600-112608400	Weak transcription	H1 Cell Line	embryonic stem cell

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