Variant report

Variant	rs7998423
Chromosome Location	chr13:39919823-39919824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12428000	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12583159	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12585476	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17059611	0.85[ASN][1000 genomes]
rs17590635	0.86[EUR][1000 genomes]
rs17628742	0.89[EUR][1000 genomes]
rs17628771	0.98[EUR][1000 genomes]
rs2147130	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2324252	0.85[ASN][1000 genomes]
rs57251095	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58305678	0.83[ASN][1000 genomes]
rs58501663	0.88[EUR][1000 genomes]
rs60535758	0.89[EUR][1000 genomes]
rs6563695	0.89[EUR][1000 genomes]
rs7322148	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73451012	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73451015	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73467374	0.96[EUR][1000 genomes]
rs74044033	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs746077	0.85[ASN][1000 genomes]
rs746078	0.85[ASN][1000 genomes]
rs747382	0.85[ASN][1000 genomes]
rs747384	0.83[ASN][1000 genomes]
rs7990125	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs912397	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39904200-39923600	Weak transcription	Ovary	ovary
2	chr13:39910600-39922400	Weak transcription	Aorta	Aorta
3	chr13:39910600-39924400	Weak transcription	Adipose Nuclei	Adipose
4	chr13:39912400-39920200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:39912400-39924600	Weak transcription	Fetal Lung	lung
6	chr13:39913000-39920000	Weak transcription	HSMM	muscle
7	chr13:39913200-39922400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:39914000-39922400	Weak transcription	Gastric	stomach
9	chr13:39914200-39924400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:39914400-39922800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr13:39914800-39924600	Weak transcription	Fetal Stomach	stomach
12	chr13:39915600-39920000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:39915800-39921600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr13:39915800-39924200	Weak transcription	Osteobl	bone
15	chr13:39916000-39922200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:39916200-39928000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:39916800-39928000	Weak transcription	NHDF-Ad	bronchial
18	chr13:39917000-39922400	Weak transcription	Lung	lung
19	chr13:39917800-39920000	Weak transcription	HSMMtube	muscle
20	chr13:39918200-39920800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr13:39918200-39928000	Weak transcription	Esophagus	oesophagus
22	chr13:39918400-39920000	Weak transcription	Left Ventricle	heart
23	chr13:39918400-39923800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:39918600-39922200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:39919200-39922200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:39919600-39920400	Enhancers	Fetal Muscle Leg	muscle
27	chr13:39919800-39920000	Enhancers	Brain Hippocampus Middle	brain
28	chr13:39919800-39920000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr13:39919800-39920200	Enhancers	Right Ventricle	heart
30	chr13:39919800-39921400	Enhancers	Fetal Heart	heart
31	chr13:39919800-39923000	Enhancers	Right Atrium	heart

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