Variant report

Variant	rs12385888
Chromosome Location	chr13:40059497-40059498
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11618810	0.91[ASN][1000 genomes]
rs28609347	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74044078	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9603548	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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	esv2757529	chr13:40040036-40090742	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759933	chr13:40040036-40090742	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40043600-40068200	Weak transcription	Lung	lung
2	chr13:40051400-40064400	Weak transcription	HSMMtube	muscle
3	chr13:40054200-40060600	Weak transcription	Aorta	Aorta
4	chr13:40054400-40060800	Weak transcription	Fetal Lung	lung
5	chr13:40055600-40060000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:40056800-40060000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:40057000-40070400	Weak transcription	Right Ventricle	heart
8	chr13:40057400-40059600	Enhancers	NHEK	skin
9	chr13:40057400-40060800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr13:40057400-40061400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:40057600-40060800	Enhancers	HSMM	muscle
12	chr13:40057600-40061600	Enhancers	Osteobl	bone
13	chr13:40057800-40059800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:40057800-40059800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:40057800-40060200	Enhancers	NH-A	brain
16	chr13:40057800-40060200	Enhancers	NHDF-Ad	bronchial
17	chr13:40057800-40061200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr13:40057800-40063200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:40058400-40060400	Enhancers	HUVEC	blood vessel
20	chr13:40058400-40068200	Weak transcription	Right Atrium	heart
21	chr13:40058600-40059600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:40058600-40061000	Weak transcription	Adipose Nuclei	Adipose
23	chr13:40058600-40063400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:40058600-40070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr13:40058800-40060000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr13:40058800-40060000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:40058800-40060000	Weak transcription	Fetal Heart	heart
28	chr13:40058800-40060200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr13:40058800-40060400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:40058800-40063000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:40059000-40059600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:40059000-40060000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr13:40059000-40060000	Enhancers	NHLF	lung
34	chr13:40059000-40060200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr13:40059000-40060200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:40059000-40060400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr13:40059000-40061400	Weak transcription	Left Ventricle	heart
38	chr13:40059000-40064000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr13:40059000-40064200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr13:40059000-40064600	Weak transcription	Ovary	ovary
41	chr13:40059000-40073000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr13:40059200-40059600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr13:40059200-40059600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr13:40059400-40060000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:40059400-40060200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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