Variant report

Variant	rs9521730
Chromosome Location	chr13:111031180-111031181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11838637	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4771674	0.86[ASN][1000 genomes]
rs4773170	0.94[JPT][hapmap]
rs4773171	0.83[CHD][hapmap];0.94[JPT][hapmap]
rs4773173	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7318424	0.84[CHD][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap]
rs7333748	0.94[JPT][hapmap];0.84[MEX][hapmap]
rs7334022	0.94[JPT][hapmap]
rs750598	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7999034	0.81[AFR][1000 genomes]
rs872587	0.94[JPT][hapmap];0.84[MEX][hapmap]
rs872588	0.94[JPT][hapmap]
rs872589	0.94[JPT][hapmap];0.84[MEX][hapmap]
rs913746	0.94[JPT][hapmap];0.84[MEX][hapmap]
rs9515195	0.94[JPT][hapmap]
rs9515196	0.94[JPT][hapmap]
rs9515197	0.94[JPT][hapmap]
rs9515199	0.91[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs9515200	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9521717	0.94[JPT][hapmap];0.84[MEX][hapmap]
rs9521718	0.94[JPT][hapmap]
rs9521719	0.94[JPT][hapmap]
rs9521720	0.94[JPT][hapmap];0.84[MEX][hapmap]
rs9521721	0.94[JPT][hapmap]
rs9521732	0.91[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.84[TSI][hapmap];0.87[ASN][1000 genomes]
rs9521733	0.95[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9521734	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9521739	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs952359	0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9555692	0.94[JPT][hapmap]
rs9555694	0.94[JPT][hapmap]
rs9555695	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9559780	0.94[JPT][hapmap];0.84[MEX][hapmap]
rs9559781	0.94[JPT][hapmap]
rs9588151	0.81[AFR][1000 genomes];0.82[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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111007600-111031400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr13:111011000-111032000	Weak transcription	Gastric	stomach
3	chr13:111011000-111032400	Weak transcription	NHEK	skin
4	chr13:111015600-111036600	Weak transcription	Fetal Intestine Small	intestine
5	chr13:111019600-111034000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:111021800-111033400	Enhancers	Fetal Heart	heart
7	chr13:111022800-111032600	Enhancers	Colon Smooth Muscle	Colon
8	chr13:111023000-111033200	Enhancers	Rectal Smooth Muscle	rectum
9	chr13:111023800-111031600	Enhancers	Adipose Nuclei	Adipose
10	chr13:111024400-111031200	Weak transcription	Fetal Stomach	stomach
11	chr13:111024400-111032200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:111024400-111040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:111024600-111031200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:111024600-111031200	Weak transcription	Placenta	Placenta
15	chr13:111024800-111039400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:111025400-111032000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:111026200-111031200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr13:111026400-111033000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr13:111026800-111031400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:111026800-111031400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:111027200-111031600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:111027600-111031800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:111028000-111031400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr13:111028200-111031400	Enhancers	Fetal Muscle Leg	muscle
25	chr13:111028400-111032600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr13:111028400-111034600	Enhancers	NHDF-Ad	bronchial
27	chr13:111028800-111031800	Weak transcription	HUVEC	blood vessel
28	chr13:111029000-111033200	Enhancers	NH-A	brain
29	chr13:111029000-111033600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:111029000-111033800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:111029400-111031600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:111029400-111034200	Genic enhancers	Osteobl	bone
33	chr13:111029600-111031200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:111029600-111031200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:111029800-111031200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr13:111029800-111031200	Weak transcription	Pancreas	Pancrea
37	chr13:111030000-111031200	Weak transcription	Left Ventricle	heart
38	chr13:111030000-111031200	Weak transcription	Lung	lung
39	chr13:111030000-111033000	Weak transcription	Spleen	Spleen
40	chr13:111030200-111031400	Weak transcription	A549	lung
41	chr13:111030400-111032000	Weak transcription	HSMM	muscle
42	chr13:111030400-111033200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr13:111030600-111031600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:111030600-111031800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr13:111030600-111031800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:111030600-111032000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr13:111030600-111032000	Weak transcription	HSMMtube	muscle
48	chr13:111030600-111034200	Enhancers	Ovary	ovary
49	chr13:111030800-111031600	Weak transcription	NHLF	lung
50	chr13:111030800-111032000	Weak transcription	Muscle Satellite Cultured Cells	--

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