Variant report

Variant	rs74044076
Chromosome Location	chr13:40057220-40057221
allele	A/G
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]
rs60891401	1.00[AFR][1000 genomes]
rs74044068	1.00[AFR][1000 genomes]
rs74044070	1.00[AFR][1000 genomes]
rs74044080	1.00[AFR][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40041600-40057800	Weak transcription	NHDF-Ad	bronchial
2	chr13:40043600-40068200	Weak transcription	Lung	lung
3	chr13:40046000-40058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:40046800-40057800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:40050000-40057800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:40051400-40064400	Weak transcription	HSMMtube	muscle
7	chr13:40052000-40057400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr13:40053600-40057800	Weak transcription	NH-A	brain
9	chr13:40054200-40057400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:40054200-40057800	Weak transcription	Fetal Heart	heart
11	chr13:40054200-40060600	Weak transcription	Aorta	Aorta
12	chr13:40054400-40057800	Weak transcription	Colon Smooth Muscle	Colon
13	chr13:40054400-40060800	Weak transcription	Fetal Lung	lung
14	chr13:40054800-40058200	Weak transcription	Ovary	ovary
15	chr13:40055600-40058400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr13:40055600-40060000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:40055800-40058400	Enhancers	Right Atrium	heart
18	chr13:40056000-40057800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:40056000-40058200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:40056200-40057400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:40056200-40057800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr13:40056200-40058400	Weak transcription	HUVEC	blood vessel
23	chr13:40056200-40058800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:40056400-40057400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr13:40056400-40057400	Weak transcription	Adipose Nuclei	Adipose
26	chr13:40056600-40058200	Weak transcription	Left Ventricle	heart
27	chr13:40056800-40059000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr13:40056800-40060000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr13:40057000-40070400	Weak transcription	Right Ventricle	heart
30	chr13:40057200-40057600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr13:40057200-40057600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:40057200-40057600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:40057200-40059200	Enhancers	HUES64 Cell Line	embryonic stem cell

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