Variant report

Variant	rs9594330
Chromosome Location	chr13:39960374-39960375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10467465	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1175906	0.83[ASN][1000 genomes]
rs17059768	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17059778	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs496665	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58009597	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73453070	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989667	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990626	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9594331	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9603527	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603529	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603530	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603531	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805148	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39947600-39960600	Weak transcription	Fetal Muscle Leg	muscle
2	chr13:39958000-39960800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:39958200-39960400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
4	chr13:39958200-39960600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr13:39958400-39960800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr13:39958400-39962200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:39958600-39960400	Enhancers	Fetal Brain Female	brain
8	chr13:39958600-39962000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:39958600-39962000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr13:39958800-39961200	Enhancers	Brain Hippocampus Middle	brain
11	chr13:39958800-39963800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:39959000-39960600	Enhancers	Colon Smooth Muscle	Colon
13	chr13:39959000-39960800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:39959000-39960800	Enhancers	Brain Substantia Nigra	brain
15	chr13:39959000-39960800	Enhancers	NH-A	brain
16	chr13:39959000-39961200	Enhancers	Right Ventricle	heart
17	chr13:39959000-39961400	Enhancers	Ovary	ovary
18	chr13:39959000-39961600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:39959200-39960400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr13:39959200-39960600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:39959200-39960600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:39959200-39960600	Enhancers	Brain Germinal Matrix	brain
23	chr13:39959400-39961200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:39959400-39961200	Enhancers	Fetal Heart	heart
25	chr13:39959400-39962000	Enhancers	Rectal Smooth Muscle	rectum
26	chr13:39959400-39965800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:39959600-39960600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr13:39959600-39960600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:39959600-39960600	Enhancers	Brain Cingulate Gyrus	brain
30	chr13:39959600-39960800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr13:39959600-39960800	Enhancers	Osteobl	bone
32	chr13:39959600-39962200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:39959600-39968800	Weak transcription	Adipose Nuclei	Adipose
34	chr13:39959800-39960800	Enhancers	Fetal Lung	lung
35	chr13:39959800-39963000	Weak transcription	Right Atrium	heart
36	chr13:39960000-39960400	Weak transcription	Left Ventricle	heart
37	chr13:39960000-39961800	Weak transcription	Aorta	Aorta
38	chr13:39960000-39979200	Weak transcription	NHDF-Ad	bronchial
39	chr13:39960200-39960400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr13:39960200-39960400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr13:39960200-39960600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
42	chr13:39960200-39960600	Enhancers	Brain Anterior Caudate	brain
43	chr13:39960200-39960800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr13:39960200-39960800	Enhancers	Fetal Stomach	stomach

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