Variant report

Variant	rs11838637
Chromosome Location	chr13:111029923-111029924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1888004	0.81[ASN][1000 genomes]
rs1888005	0.81[ASN][1000 genomes]
rs4771674	0.88[ASN][1000 genomes]
rs4773169	0.81[ASN][1000 genomes]
rs4773170	0.81[ASN][1000 genomes]
rs4773171	0.81[ASN][1000 genomes]
rs4773173	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7318424	0.83[ASN][1000 genomes]
rs750598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999034	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9515199	0.90[ASN][1000 genomes]
rs9515200	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9521730	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9521732	0.90[ASN][1000 genomes]
rs9521733	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9521734	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9521739	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs952359	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9555692	0.81[ASN][1000 genomes]
rs9555694	0.81[ASN][1000 genomes]
rs9555695	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9559781	0.81[ASN][1000 genomes]
rs9588151	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111007600-111030600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:111007600-111031000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr13:111007600-111031400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr13:111011000-111032000	Weak transcription	Gastric	stomach
5	chr13:111011000-111032400	Weak transcription	NHEK	skin
6	chr13:111015600-111036600	Weak transcription	Fetal Intestine Small	intestine
7	chr13:111019600-111034000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:111021800-111033400	Enhancers	Fetal Heart	heart
9	chr13:111022800-111032600	Enhancers	Colon Smooth Muscle	Colon
10	chr13:111023000-111033200	Enhancers	Rectal Smooth Muscle	rectum
11	chr13:111023800-111031600	Enhancers	Adipose Nuclei	Adipose
12	chr13:111024400-111031200	Weak transcription	Fetal Stomach	stomach
13	chr13:111024400-111032200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:111024400-111040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:111024600-111031200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:111024600-111031200	Weak transcription	Placenta	Placenta
17	chr13:111024800-111039400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:111025200-111031000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:111025400-111032000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:111026200-111031200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:111026400-111033000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr13:111026800-111031400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:111026800-111031400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:111027000-111030200	Enhancers	Ovary	ovary
25	chr13:111027200-111031600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:111027600-111031800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:111027800-111031000	Enhancers	Fetal Muscle Trunk	muscle
28	chr13:111028000-111031000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr13:111028000-111031400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr13:111028200-111031400	Enhancers	Fetal Muscle Leg	muscle
31	chr13:111028400-111030800	Enhancers	Stomach Smooth Muscle	stomach
32	chr13:111028400-111032600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr13:111028400-111034600	Enhancers	NHDF-Ad	bronchial
34	chr13:111028600-111030000	Enhancers	Spleen	Spleen
35	chr13:111028800-111030000	Enhancers	Right Ventricle	heart
36	chr13:111028800-111031800	Weak transcription	HUVEC	blood vessel
37	chr13:111029000-111030000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:111029000-111030000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr13:111029000-111030000	Enhancers	Left Ventricle	heart
40	chr13:111029000-111030000	Enhancers	Lung	lung
41	chr13:111029000-111030000	Enhancers	Right Atrium	heart
42	chr13:111029000-111030400	Enhancers	HSMM	muscle
43	chr13:111029000-111033200	Enhancers	NH-A	brain
44	chr13:111029000-111033600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr13:111029000-111033800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr13:111029200-111030800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr13:111029400-111030000	Enhancers	HSMMtube	muscle
48	chr13:111029400-111030600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr13:111029400-111030600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr13:111029400-111030800	Enhancers	NHLF	lung

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