Variant report

Variant	rs531282293
Chromosome Location	chr9:17578673-17578674
allele	A/C
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	MAX	chr9:17578644-17579395	ECC-1	luminal epithelium:	n/a	n/a
2	SUZ12	chr9:17578555-17579994	NT2-D1	testis:	n/a	n/a
3	MAX	chr9:17578610-17579756	H1-hESC	embryonic stem cell:	n/a	n/a
4	CREB1	chr9:17578652-17579375	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF2	chr9:17578640-17579179	H1-hESC	embryonic stem cell:	n/a	chr9:17578850-17578866 chr9:17578984-17579000
6	MAX	chr9:17578592-17579891	H1-hESC	embryonic stem cell:	n/a	n/a
7	RCOR1	chr9:17578565-17579698	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr9:17578646-17579552	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr9:17578483-17579540	H1-hESC	embryonic stem cell:	n/a	chr9:17579058-17579067 chr9:17579359-17579369 chr9:17579473-17579482 chr9:17578852-17578862 chr9:17579060-17579069
10	POLR2A	chr9:17578505-17579671	H1-hESC	embryonic stem cell:	n/a	n/a
11	TBP	chr9:17578636-17579700	H1-hESC	embryonic stem cell:	n/a	n/a
12	HCFC1	chr9:17578579-17579706	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
SH3GL2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv471287	chr9:17165698-17708814	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv466269	chr9:17165698-17710407	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv892671	chr9:17378776-17610211	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv2422265	chr9:17396711-17598187	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv517380	chr9:17564267-17633232	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv466274	chr9:17564267-17633232	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv613701	chr9:17564267-17633232	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv892672	chr9:17564267-17634566	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1025072	chr9:17577141-17632543	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3414236	chr9:17577977-17580825	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17577800-17580000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr9:17578200-17578800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
3	chr9:17578200-17579000	Bivalent/Poised TSS	Ovary	ovary
4	chr9:17578200-17580000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:17578200-17580600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr9:17578400-17579000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
7	chr9:17578400-17579000	Flanking Active TSS	Hela-S3	cervix
8	chr9:17578400-17579800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr9:17578400-17580000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr9:17578400-17580000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr9:17578400-17580000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr9:17578400-17580000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:17578400-17580000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
14	chr9:17578400-17580200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr9:17578400-17580200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr9:17578400-17580400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr9:17578400-17580800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:17578400-17580800	Active TSS	Fetal Brain Female	brain
19	chr9:17578600-17578800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:17578600-17578800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:17578600-17578800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:17578600-17578800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr9:17578600-17578800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr9:17578600-17578800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:17578600-17578800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:17578600-17578800	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr9:17578600-17578800	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr9:17578600-17578800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
29	chr9:17578600-17578800	Active TSS	Brain Hippocampus Middle	brain
30	chr9:17578600-17578800	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr9:17578600-17578800	Bivalent Enhancer	Colonic Mucosa	Colon
32	chr9:17578600-17578800	Bivalent Enhancer	Fetal Heart	heart
33	chr9:17578600-17578800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
34	chr9:17578600-17578800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
35	chr9:17578600-17578800	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr9:17578600-17578800	Bivalent Enhancer	Left Ventricle	heart
37	chr9:17578600-17578800	Enhancers	Pancreas	Pancrea
38	chr9:17578600-17578800	Bivalent/Poised TSS	Psoas Muscle	Psoas
39	chr9:17578600-17578800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
40	chr9:17578600-17578800	Active TSS	Right Atrium	heart
41	chr9:17578600-17578800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr9:17578600-17578800	Flanking Bivalent TSS/Enh	A549	lung
43	chr9:17578600-17578800	Flanking Bivalent TSS/Enh	NHLF	lung
44	chr9:17578600-17579000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:17578600-17579000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
46	chr9:17578600-17579000	Active TSS	Primary B cells from cord blood	blood
47	chr9:17578600-17579000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr9:17578600-17579000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:17578600-17579000	Enhancers	Fetal Brain Male	brain
50	chr9:17578600-17579000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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