Variant report

Variant	rs73501242
Chromosome Location	chr9:104228975-104228976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr9:104228854-104229642	SH-SY5Y	brain:	n/a	chr9:104229339-104229349

Variant related genes	Relation type
ENSG00000225376	TF binding region

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs73501240	1.00[AFR][1000 genomes]
rs73501243	1.00[AFR][1000 genomes]
rs73501246	1.00[AFR][1000 genomes]
rs73501248	1.00[AFR][1000 genomes]
rs73501249	0.87[AFR][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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv614962	chr9:104204614-104240708	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104212000-104241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:104221800-104235000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:104222000-104236400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:104224200-104230800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:104224800-104235000	Weak transcription	Pancreas	Pancrea
6	chr9:104225000-104237800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:104225400-104230400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:104225400-104235800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr9:104225400-104237200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:104225800-104229200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:104226000-104239200	Weak transcription	NH-A	brain
12	chr9:104226400-104236400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:104226600-104229200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr9:104226600-104235200	Weak transcription	Ovary	ovary
15	chr9:104226600-104236200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:104226600-104238200	Weak transcription	Esophagus	oesophagus
17	chr9:104226800-104230200	Enhancers	Brain Hippocampus Middle	brain
18	chr9:104227200-104231800	Weak transcription	Right Ventricle	heart
19	chr9:104227400-104229000	Enhancers	NHDF-Ad	bronchial
20	chr9:104227400-104229400	Enhancers	Stomach Mucosa	stomach
21	chr9:104227600-104229000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr9:104227600-104229000	Enhancers	NHLF	lung
23	chr9:104227600-104229400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:104227600-104235600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr9:104227800-104229000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:104227800-104229400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr9:104227800-104229600	Weak transcription	Brain Substantia Nigra	brain
28	chr9:104227800-104230800	Weak transcription	HepG2	liver
29	chr9:104227800-104232200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:104227800-104234200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr9:104227800-104235000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr9:104227800-104235200	Weak transcription	Fetal Intestine Large	intestine
33	chr9:104227800-104235800	Weak transcription	Aorta	Aorta
34	chr9:104227800-104238200	Weak transcription	Colonic Mucosa	Colon
35	chr9:104227800-104242800	Weak transcription	K562	blood
36	chr9:104227800-104248200	Weak transcription	Liver	Liver
37	chr9:104228000-104229000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:104228000-104229400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr9:104228000-104229400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr9:104228000-104229600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr9:104228000-104230400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr9:104228000-104235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:104228000-104236600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:104228000-104238000	Weak transcription	A549	lung
45	chr9:104228000-104240000	Weak transcription	Colon Smooth Muscle	Colon
46	chr9:104228200-104230400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr9:104228200-104235800	Weak transcription	Adipose Nuclei	Adipose
48	chr9:104228200-104237600	Weak transcription	Fetal Intestine Small	intestine
49	chr9:104228400-104229000	Enhancers	NHEK	skin
50	chr9:104228400-104230200	Weak transcription	Brain Angular Gyrus	brain

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