Variant report

Variant	rs74099688
Chromosome Location	chr13:80324928-80324929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12583646	0.96[ASN][1000 genomes]
rs12583817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12584347	0.94[ASN][1000 genomes]
rs12584389	0.82[ASN][1000 genomes]
rs12584683	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12585395	0.83[ASN][1000 genomes]
rs1414111	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1577405	1.00[EUR][1000 genomes]
rs17071815	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17189468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17793708	0.85[EUR][1000 genomes]
rs57650273	0.91[ASN][1000 genomes]
rs7330531	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74099689	0.95[ASN][1000 genomes]
rs74099690	0.95[ASN][1000 genomes]
rs74099693	0.93[ASN][1000 genomes]
rs74099696	0.94[ASN][1000 genomes]
rs74099698	0.94[ASN][1000 genomes]
rs74099699	0.94[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	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1039333	chr13:80289936-80333167	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80319600-80330400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:80322800-80325200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr13:80322800-80325400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:80322800-80325800	Enhancers	Fetal Kidney	kidney
5	chr13:80323000-80325200	Enhancers	Fetal Heart	heart
6	chr13:80323000-80325400	Enhancers	Fetal Muscle Leg	muscle
7	chr13:80323400-80325200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:80323400-80325400	Enhancers	HSMMtube	muscle
9	chr13:80323400-80325600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:80323600-80325000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:80323600-80325000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:80323600-80325200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:80323600-80325400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:80323600-80326200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:80323800-80325000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:80323800-80325000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:80323800-80325000	Enhancers	Fetal Lung	lung
18	chr13:80323800-80325000	Enhancers	Osteobl	bone
19	chr13:80323800-80325200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:80323800-80325200	Enhancers	HMEC	breast
21	chr13:80323800-80325200	Enhancers	NHDF-Ad	bronchial
22	chr13:80323800-80325200	Enhancers	NHLF	lung
23	chr13:80324000-80325000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr13:80324000-80325000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr13:80324000-80325000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:80324000-80325000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr13:80324000-80325000	Enhancers	HUVEC	blood vessel
28	chr13:80324000-80325000	Enhancers	NHEK	skin
29	chr13:80324000-80325200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr13:80324200-80325000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr13:80324200-80325000	Enhancers	Adipose Nuclei	Adipose
32	chr13:80324200-80325000	Enhancers	A549	lung
33	chr13:80324200-80325000	Enhancers	NH-A	brain
34	chr13:80324200-80325200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr13:80324200-80325200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:80324400-80325000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:80324400-80325000	Enhancers	Right Atrium	heart
38	chr13:80324400-80325000	Enhancers	Right Ventricle	heart
39	chr13:80324400-80325200	Enhancers	Small Intestine	intestine
40	chr13:80324400-80326000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr13:80324600-80325200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr13:80324600-80328200	Weak transcription	Ovary	ovary
43	chr13:80324600-80328200	Weak transcription	HSMM	muscle

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