Variant report

Variant	rs73404380
Chromosome Location	chr9:13107726-13107727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:13106506..13109956-chr9:13112582..13115100,3	K562	blood:
2	chr9:13105793..13107889-chr9:13185268..13188197,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs71306704	1.00[AMR][1000 genomes]
rs73404353	1.00[AMR][1000 genomes]
rs73404357	1.00[AMR][1000 genomes]
rs73404358	1.00[AMR][1000 genomes]
rs73404363	1.00[AMR][1000 genomes]
rs73404366	1.00[AMR][1000 genomes]
rs73404372	1.00[AMR][1000 genomes]
rs73404374	1.00[AMR][1000 genomes]
rs73404385	1.00[AMR][1000 genomes]
rs73404389	1.00[AMR][1000 genomes]
rs7867086	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422212	chr9:12448789-13127738	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv917331	chr9:12941193-13146852	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv892578	chr9:12942956-13485035	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv892579	chr9:12954161-13120380	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv892580	chr9:13065680-13115422	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv892581	chr9:13085379-13120380	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv892582	chr9:13085379-13147764	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13091800-13121600	Weak transcription	Brain Angular Gyrus	brain
2	chr9:13094200-13109800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:13096600-13109600	Weak transcription	Brain Germinal Matrix	brain
4	chr9:13097800-13139400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:13101600-13120400	Weak transcription	Fetal Kidney	kidney
6	chr9:13101600-13141600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:13102000-13115400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:13102200-13108800	Weak transcription	HUVEC	blood vessel
9	chr9:13102200-13122600	Weak transcription	Fetal Intestine Small	intestine
10	chr9:13102400-13111200	Weak transcription	Fetal Stomach	stomach
11	chr9:13102800-13109800	Weak transcription	NHLF	lung
12	chr9:13102800-13121400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:13103000-13111200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:13103000-13118800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:13103000-13119400	Weak transcription	Right Ventricle	heart
16	chr9:13103200-13113600	Weak transcription	Fetal Brain Female	brain
17	chr9:13103200-13134600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:13103200-13137200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr9:13103200-13143400	Weak transcription	Pancreas	Pancrea
20	chr9:13103200-13163400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr9:13103200-13175600	Weak transcription	HepG2	liver
22	chr9:13103400-13109600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr9:13103400-13116800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:13103400-13134600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:13103600-13113000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr9:13103800-13107800	Strong transcription	Placenta	Placenta
27	chr9:13103800-13109800	Weak transcription	Fetal Heart	heart
28	chr9:13103800-13139400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:13104000-13108000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr9:13104000-13108200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:13104000-13112000	Weak transcription	Gastric	stomach
32	chr9:13104000-13113200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:13104200-13110200	Strong transcription	Fetal Lung	lung
34	chr9:13104200-13110400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:13104200-13113200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:13104400-13108200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:13104400-13110200	Strong transcription	Adipose Nuclei	Adipose
38	chr9:13104400-13110600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:13104400-13110600	Strong transcription	Liver	Liver
40	chr9:13104400-13113800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:13104400-13137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:13104600-13114000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:13104600-13114200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr9:13104800-13107800	Strong transcription	Colon Smooth Muscle	Colon
45	chr9:13104800-13108000	Strong transcription	HSMM	muscle
46	chr9:13104800-13110200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:13104800-13113200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr9:13105200-13107800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr9:13105200-13108400	Weak transcription	NHDF-Ad	bronchial
50	chr9:13105200-13109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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