Variant report

Variant	rs8001763
Chromosome Location	chr13:39923752-39923753
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12184886	0.85[ASN][1000 genomes]
rs12429060	0.85[ASN][1000 genomes]
rs17059609	0.81[ASN][1000 genomes]
rs17059622	0.81[ASN][1000 genomes]
rs17059628	0.85[ASN][1000 genomes]
rs2181759	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2324253	0.81[ASN][1000 genomes]
rs4640054	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56183908	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58005196	1.00[ASN][1000 genomes]
rs58551847	0.81[ASN][1000 genomes]
rs59329722	0.81[ASN][1000 genomes]
rs68183203	0.91[EUR][1000 genomes]
rs7322559	1.00[ASN][1000 genomes]
rs7330251	0.85[ASN][1000 genomes]
rs7332991	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7334522	0.96[ASN][1000 genomes]
rs73467356	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73467371	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74044015	0.91[EUR][1000 genomes]
rs74044032	1.00[ASN][1000 genomes]
rs74044033	0.90[AFR][1000 genomes]
rs7990125	0.81[AFR][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39910600-39924400	Weak transcription	Adipose Nuclei	Adipose
2	chr13:39912400-39924600	Weak transcription	Fetal Lung	lung
3	chr13:39914200-39924400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr13:39914800-39924600	Weak transcription	Fetal Stomach	stomach
5	chr13:39915800-39924200	Weak transcription	Osteobl	bone
6	chr13:39916200-39928000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:39916800-39928000	Weak transcription	NHDF-Ad	bronchial
8	chr13:39918200-39928000	Weak transcription	Esophagus	oesophagus
9	chr13:39918400-39923800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr13:39920400-39923800	Weak transcription	HSMMtube	muscle
11	chr13:39921800-39925400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr13:39922200-39924600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr13:39922200-39925200	Enhancers	Brain Cingulate Gyrus	brain
14	chr13:39922200-39925400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:39922200-39925400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:39922200-39925400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:39922200-39925600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:39922400-39924600	Enhancers	Aorta	Aorta
19	chr13:39922400-39925000	Enhancers	Brain Hippocampus Middle	brain
20	chr13:39922400-39925200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr13:39922600-39923800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr13:39922600-39923800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr13:39922600-39924600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:39922600-39924600	Enhancers	Fetal Heart	heart
25	chr13:39922600-39924800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr13:39922600-39925400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr13:39922800-39924800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr13:39922800-39924800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr13:39922800-39925400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr13:39923000-39923800	Weak transcription	Left Ventricle	heart
31	chr13:39923000-39923800	Weak transcription	Lung	lung
32	chr13:39923000-39924000	Enhancers	Brain Substantia Nigra	brain
33	chr13:39923000-39924000	Weak transcription	Small Intestine	intestine
34	chr13:39923000-39924200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:39923000-39924600	Weak transcription	Right Atrium	heart
36	chr13:39923000-39926400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:39923200-39924000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr13:39923200-39924600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr13:39923600-39924000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:39923600-39924000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr13:39923600-39924000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:39923600-39924000	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr13:39923600-39924200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:39923600-39924600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:39923600-39924600	Enhancers	NH-A	brain
46	chr13:39923600-39924800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
47	chr13:39923600-39925000	Enhancers	Brain Angular Gyrus	brain
48	chr13:39923600-39925000	Enhancers	Ovary	ovary
49	chr13:39923600-39925200	Enhancers	Brain Anterior Caudate	brain
50	chr13:39923600-39925200	Enhancers	Fetal Muscle Leg	muscle

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