Variant report

Variant	rs73173498
Chromosome Location	chr13:39983815-39983816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10492739	0.81[ASN][1000 genomes]
rs1175912	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1185800	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428389	0.81[ASN][1000 genomes]
rs12429365	0.89[ASN][1000 genomes]
rs17803327	0.81[ASN][1000 genomes]
rs561008	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59279722	0.88[ASN][1000 genomes]
rs629422	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641027	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73173499	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv900008	chr13:39962791-40020267	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39972800-39988600	Weak transcription	Fetal Muscle Leg	muscle
2	chr13:39975800-39988400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr13:39975800-39988600	Weak transcription	Right Atrium	heart
4	chr13:39976200-39984000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr13:39976600-39990600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:39977000-39987800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:39977800-39984400	Weak transcription	Psoas Muscle	Psoas
8	chr13:39980000-39984000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:39980000-39984000	Weak transcription	NHLF	lung
10	chr13:39980200-39984400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:39980200-39988600	Weak transcription	Fetal Stomach	stomach
12	chr13:39980400-39984400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr13:39980800-39984600	Weak transcription	HSMM	muscle
14	chr13:39981400-39991800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:39981400-39991800	Weak transcription	NHEK	skin
16	chr13:39981600-39984200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr13:39981600-39985200	Weak transcription	Ovary	ovary
18	chr13:39981800-39988600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr13:39982000-39986600	Enhancers	Fetal Heart	heart
20	chr13:39982400-39985200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:39983000-39985000	Enhancers	Right Ventricle	heart
22	chr13:39983200-39984600	Enhancers	Brain Angular Gyrus	brain
23	chr13:39983200-39985600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr13:39983200-39986200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:39983200-39986600	Enhancers	Adipose Nuclei	Adipose
26	chr13:39983400-39989400	Weak transcription	Left Ventricle	heart
27	chr13:39983600-39984200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr13:39983600-39984200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:39983600-39984400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:39983600-39984400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:39983600-39984800	Enhancers	Brain Cingulate Gyrus	brain
32	chr13:39983600-39984800	Enhancers	Fetal Lung	lung
33	chr13:39983600-39984800	Enhancers	HSMMtube	muscle
34	chr13:39983600-39985000	Enhancers	Brain Hippocampus Middle	brain
35	chr13:39983600-39985200	Enhancers	HUVEC	blood vessel
36	chr13:39983600-39986000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr13:39983600-39986000	Enhancers	Brain Anterior Caudate	brain
38	chr13:39983600-39986200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr13:39983600-39986600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr13:39983600-39986600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr13:39983600-39987200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr13:39983600-39987400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr13:39983800-39984000	Flanking Active TSS	Osteobl	bone
44	chr13:39983800-39984400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr13:39983800-39984600	Enhancers	NH-A	brain
46	chr13:39983800-39985000	Enhancers	Brain Substantia Nigra	brain
47	chr13:39983800-39985000	Enhancers	NHDF-Ad	bronchial
48	chr13:39983800-39985200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:39983800-39985200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr13:39983800-39985600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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