Variant report

Variant	rs750598
Chromosome Location	chr13:111028978-111028979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11838637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
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	0.83[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4773171	0.83[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4773173	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7318424	0.81[ASW][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.92[YRI][hapmap];0.83[ASN][1000 genomes]
rs7333748	0.94[JPT][hapmap];0.84[MEX][hapmap]
rs7334022	0.94[JPT][hapmap]
rs7999034	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs872587	0.81[ASW][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.81[YRI][hapmap]
rs872588	0.94[JPT][hapmap];0.81[YRI][hapmap]
rs872589	0.81[ASW][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.81[YRI][hapmap]
rs913746	0.81[ASW][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.81[YRI][hapmap]
rs9515195	0.94[JPT][hapmap]
rs9515196	0.94[JPT][hapmap]
rs9515197	0.94[JPT][hapmap]
rs9515199	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs9515200	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9521717	0.81[ASW][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.81[YRI][hapmap]
rs9521718	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs9521719	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs9521720	0.94[JPT][hapmap];0.84[MEX][hapmap]
rs9521721	0.94[JPT][hapmap]
rs9521730	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]
rs9521732	0.95[CHB][hapmap];0.88[CHD][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs9521733	1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.88[TSI][hapmap];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	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9555692	0.85[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs9555694	0.83[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs9555695	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9559780	0.94[JPT][hapmap];0.84[MEX][hapmap]
rs9559781	0.83[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs9583489	0.84[YRI][hapmap]
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:62 , 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	chr13:111009000-111029400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr13:111011000-111032000	Weak transcription	Gastric	stomach
6	chr13:111011000-111032400	Weak transcription	NHEK	skin
7	chr13:111011200-111029800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:111014400-111029000	Weak transcription	HSMM	muscle
9	chr13:111014800-111029600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:111015600-111036600	Weak transcription	Fetal Intestine Small	intestine
11	chr13:111019600-111034000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:111021800-111033400	Enhancers	Fetal Heart	heart
13	chr13:111022800-111032600	Enhancers	Colon Smooth Muscle	Colon
14	chr13:111023000-111033200	Enhancers	Rectal Smooth Muscle	rectum
15	chr13:111023800-111031600	Enhancers	Adipose Nuclei	Adipose
16	chr13:111024400-111031200	Weak transcription	Fetal Stomach	stomach
17	chr13:111024400-111032200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:111024400-111040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:111024600-111029000	Weak transcription	Lung	lung
20	chr13:111024600-111029000	Weak transcription	Pancreas	Pancrea
21	chr13:111024600-111029400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:111024600-111029400	Weak transcription	HSMMtube	muscle
23	chr13:111024600-111031200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr13:111024600-111031200	Weak transcription	Placenta	Placenta
25	chr13:111024800-111029000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr13:111024800-111039400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:111025000-111029400	Weak transcription	NHLF	lung
28	chr13:111025200-111029400	Weak transcription	Osteobl	bone
29	chr13:111025200-111031000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:111025400-111029400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr13:111025400-111032000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:111026200-111031200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr13:111026400-111033000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr13:111026800-111031400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:111026800-111031400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:111027000-111030200	Enhancers	Ovary	ovary
37	chr13:111027200-111031600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:111027600-111029000	Weak transcription	Aorta	Aorta
39	chr13:111027600-111031800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr13:111027800-111029000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:111027800-111029000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr13:111027800-111029000	Weak transcription	Left Ventricle	heart
43	chr13:111027800-111029200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr13:111027800-111031000	Enhancers	Fetal Muscle Trunk	muscle
45	chr13:111028000-111029000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:111028000-111029000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:111028000-111029000	Weak transcription	Right Atrium	heart
48	chr13:111028000-111029400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:111028000-111031000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:111028000-111031400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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