Variant report

Variant	rs74044044
Chromosome Location	chr13:39959678-39959679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs671975	0.96[AFR][1000 genomes]
rs74044043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7997300	1.00[AMR][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39939800-39959800	Weak transcription	Fetal Lung	lung
2	chr13:39947600-39960600	Weak transcription	Fetal Muscle Leg	muscle
3	chr13:39958000-39960000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr13:39958000-39960800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:39958200-39960400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr13:39958200-39960600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr13:39958400-39960800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr13:39958400-39962200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:39958600-39960400	Enhancers	Fetal Brain Female	brain
10	chr13:39958600-39962000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:39958600-39962000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr13:39958800-39960200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
13	chr13:39958800-39961200	Enhancers	Brain Hippocampus Middle	brain
14	chr13:39958800-39963800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:39959000-39959800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr13:39959000-39959800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:39959000-39959800	Enhancers	HMEC	breast
18	chr13:39959000-39960000	Enhancers	Aorta	Aorta
19	chr13:39959000-39960000	Enhancers	Left Ventricle	heart
20	chr13:39959000-39960000	Enhancers	NHDF-Ad	bronchial
21	chr13:39959000-39960600	Enhancers	Colon Smooth Muscle	Colon
22	chr13:39959000-39960800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:39959000-39960800	Enhancers	Brain Substantia Nigra	brain
24	chr13:39959000-39960800	Enhancers	NH-A	brain
25	chr13:39959000-39961200	Enhancers	Right Ventricle	heart
26	chr13:39959000-39961400	Enhancers	Ovary	ovary
27	chr13:39959000-39961600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:39959200-39960400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr13:39959200-39960600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:39959200-39960600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:39959200-39960600	Enhancers	Brain Germinal Matrix	brain
32	chr13:39959400-39960000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:39959400-39960200	Weak transcription	Brain Anterior Caudate	brain
34	chr13:39959400-39961200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:39959400-39961200	Enhancers	Fetal Heart	heart
36	chr13:39959400-39962000	Enhancers	Rectal Smooth Muscle	rectum
37	chr13:39959400-39965800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr13:39959600-39959800	Enhancers	Right Atrium	heart
39	chr13:39959600-39960200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr13:39959600-39960600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr13:39959600-39960600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:39959600-39960600	Enhancers	Brain Cingulate Gyrus	brain
43	chr13:39959600-39960800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr13:39959600-39960800	Enhancers	Osteobl	bone
45	chr13:39959600-39962200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr13:39959600-39968800	Weak transcription	Adipose Nuclei	Adipose

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