Variant report

Variant	rs557572518
Chromosome Location	chr9:17579012-17579013
allele	C/G
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	chr9:17578691-17579412	Hela-S3	cervix:	n/a	n/a
2	CREB1	chr9:17578738-17579751	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr9:17578644-17579395	ECC-1	luminal epithelium:	n/a	n/a
4	TAF1	chr9:17578909-17579266	Hela-S3	cervix:	n/a	n/a
5	ZNF143	chr9:17578790-17579563	H1-hESC	embryonic stem cell:	n/a	n/a
6	CREB1	chr9:17578888-17579286	HepG2	liver:	n/a	n/a
7	GABPA	chr9:17578838-17579225	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr9:17578851-17579027	H1-hESC	embryonic stem cell:	n/a	chr9:17578919-17578932 chr9:17578922-17578935
9	CREB1	chr9:17578927-17579150	A549	lung:	n/a	n/a
10	SP1	chr9:17578834-17579214	H1-hESC	embryonic stem cell:	n/a	chr9:17579011-17579020 chr9:17579010-17579022 chr9:17579011-17579021 chr9:17579012-17579021 chr9:17579010-17579021 chr9:17579010-17579022 chr9:17579012-17579021
11	TAF1	chr9:17578688-17579771	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F4	chr9:17578860-17579153	MCF10A-Er-Src	breast:	n/a	chr9:17579058-17579067 chr9:17579060-17579069
13	POLR2A	chr9:17578926-17579381	Hela-S3	cervix:	n/a	n/a
14	MAFK	chr9:17578902-17579105	Hela-S3	cervix:	n/a	n/a
15	TAF1	chr9:17578756-17579340	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr9:17578811-17579206	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr9:17578881-17579269	ECC-1	luminal epithelium:	n/a	n/a
18	RAD21	chr9:17578735-17579686	H1-hESC	embryonic stem cell:	n/a	chr9:17578919-17578933 chr9:17578852-17578865 chr9:17578921-17578935
19	REST	chr9:17578682-17579609	H1-neurons	neurons:	n/a	chr9:17578853-17578863
20	SUZ12	chr9:17578555-17579994	NT2-D1	testis:	n/a	n/a
21	MAX	chr9:17578717-17579374	A549	lung:	n/a	n/a
22	TAF1	chr9:17578844-17579726	H1-hESC	embryonic stem cell:	n/a	n/a
23	SMC3	chr9:17578699-17579862	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr9:17578865-17579317	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr9:17578610-17579756	H1-hESC	embryonic stem cell:	n/a	n/a
26	YY1	chr9:17578763-17579130	H1-hESC	embryonic stem cell:	n/a	chr9:17578848-17578859 chr9:17578771-17578780 chr9:17578766-17578780 chr9:17578852-17578866 chr9:17578763-17578777
27	ATF2	chr9:17578879-17579258	H1-hESC	embryonic stem cell:	n/a	chr9:17579056-17579070
28	RAD21	chr9:17578722-17579302	ECC-1	luminal epithelium:	n/a	chr9:17578919-17578933 chr9:17578852-17578865 chr9:17578921-17578935
29	ZNF143	chr9:17578817-17579257	Hela-S3	cervix:	n/a	n/a
30	MAX	chr9:17578861-17579232	A549	lung:	n/a	n/a
31	MAZ	chr9:17578884-17579719	Hela-S3	cervix:	n/a	n/a
32	YY1	chr9:17578896-17579275	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr9:17578693-17579747	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr9:17578860-17579453	Hela-S3	cervix:	n/a	n/a
35	TCF12	chr9:17578703-17579319	ECC-1	luminal epithelium:	n/a	chr9:17578745-17578755
36	CREB1	chr9:17578652-17579375	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr9:17578899-17579312	A549	lung:	n/a	n/a
38	CTCF	chr9:17578970-17579091	Kidney_OC	kidney:	n/a	n/a
39	CEBPB	chr9:17578952-17579084	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZKSCAN1	chr9:17578882-17579176	Hela-S3	cervix:	n/a	n/a
41	EP300	chr9:17578743-17579225	H1-hESC	embryonic stem cell:	n/a	chr9:17578852-17578868 chr9:17578853-17578869
42	MXI1	chr9:17578895-17579367	H1-hESC	embryonic stem cell:	n/a	n/a
43	GTF2F1	chr9:17578927-17579231	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr9:17578731-17579704	Hela-S3	cervix:	n/a	n/a
45	SP1	chr9:17578867-17579235	H1-hESC	embryonic stem cell:	n/a	chr9:17579011-17579020 chr9:17579010-17579022 chr9:17579011-17579021 chr9:17579012-17579021 chr9:17579010-17579021 chr9:17579010-17579022 chr9:17579012-17579021
46	CHD2	chr9:17578780-17579235	H1-hESC	embryonic stem cell:	n/a	n/a
47	ELK1	chr9:17578948-17579014	Hela-S3	cervix:	n/a	n/a
48	TCF7L2	chr9:17578784-17579607	Hela-S3	cervix:	n/a	n/a
49	USF2	chr9:17578640-17579179	H1-hESC	embryonic stem cell:	n/a	chr9:17578850-17578866 chr9:17578984-17579000
50	ZNF263	chr9:17578724-17579134	HEK293-T-REx	kidney:	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17577800-17580000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr9:17578200-17580000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:17578200-17580600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr9:17578400-17579800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr9:17578400-17580000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr9:17578400-17580000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr9:17578400-17580000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr9:17578400-17580000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:17578400-17580000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
10	chr9:17578400-17580200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr9:17578400-17580200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr9:17578400-17580400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr9:17578400-17580800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:17578400-17580800	Active TSS	Fetal Brain Female	brain
15	chr9:17578600-17579200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
16	chr9:17578600-17579200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
17	chr9:17578600-17579200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
18	chr9:17578600-17579200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr9:17578600-17579200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr9:17578600-17579200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
21	chr9:17578600-17579200	Flanking Active TSS	Right Ventricle	heart
22	chr9:17578600-17579200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
23	chr9:17578600-17579400	Bivalent/Poised TSS	Fetal Kidney	kidney
24	chr9:17578600-17579600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:17578600-17579600	Enhancers	Liver	Liver
26	chr9:17578600-17579600	Active TSS	Rectal Smooth Muscle	rectum
27	chr9:17578600-17579600	Bivalent Enhancer	Spleen	Spleen
28	chr9:17578600-17579600	Bivalent/Poised TSS	HSMMtube	muscle
29	chr9:17578600-17579600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
30	chr9:17578600-17579600	Flanking Bivalent TSS/Enh	NH-A	brain
31	chr9:17578600-17579800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr9:17578600-17579800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:17578600-17579800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr9:17578600-17579800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:17578600-17579800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:17578600-17579800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:17578600-17579800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:17578600-17579800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:17578600-17579800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
40	chr9:17578600-17579800	Bivalent Enhancer	Placenta	Placenta
41	chr9:17578600-17579800	Active TSS	Gastric	stomach
42	chr9:17578600-17579800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
43	chr9:17578600-17579800	Flanking Bivalent TSS/Enh	HMEC	breast
44	chr9:17578600-17579800	Bivalent/Poised TSS	HSMM	muscle
45	chr9:17578600-17579800	Bivalent/Poised TSS	NHEK	skin
46	chr9:17578600-17579800	Bivalent/Poised TSS	Osteobl	bone
47	chr9:17578600-17580000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr9:17578600-17580000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr9:17578600-17580000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr9:17578600-17580000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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