Variant report

Variant	esv3510317
Chromosome Location	chr7:55971671-55972275
allele	n/a
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	ATF2	chr7:55972016-55972435	GM12878	blood:	n/a	n/a
2	ATF2	chr7:55972080-55972473	GM12878	blood:	n/a	n/a
3	BATF	chr7:55972056-55972359	GM12878	blood:	n/a	n/a
4	BATF	chr7:55972050-55972357	GM12878	blood:	n/a	n/a
5	ELF1	chr7:55972119-55972477	GM12878	blood:	n/a	n/a
6	EP300	chr7:55972083-55972382	GM12878	blood:	n/a	n/a
7	EP300	chr7:55972122-55972474	GM12878	blood:	n/a	n/a
8	FOXM1	chr7:55971989-55972503	GM12878	blood:	n/a	n/a
9	IRF4	chr7:55971998-55972460	GM12878	blood:	n/a	n/a
10	IRF4	chr7:55972119-55972394	GM12878	blood:	n/a	n/a
11	MEF2A	chr7:55972054-55972393	GM12878	blood:	n/a	n/a
12	MTA3	chr7:55971992-55972529	GM12878	blood:	n/a	n/a
13	NFIC	chr7:55972056-55972352	GM12878	blood:	n/a	n/a
14	PAX5	chr7:55972174-55972328	GM12878	blood:	n/a	n/a
15	PAX5	chr7:55972131-55972506	GM12878	blood:	n/a	n/a
16	RUNX3	chr7:55972033-55972495	GM12878	blood:	n/a	n/a
17	RUNX3	chr7:55972040-55972495	GM12878	blood:	n/a	n/a
18	SP1	chr7:55972045-55972429	GM12878	blood:	n/a	n/a
19	SPI1	chr7:55972097-55972626	GM12878	blood:	n/a	n/a
20	SPI1	chr7:55972063-55972397	GM12878	blood:	n/a	n/a
21	SPI1	chr7:55972046-55972482	GM12891	blood:	n/a	n/a
22	SPI1	chr7:55972017-55972424	GM12891	blood:	n/a	n/a
23	SPI1	chr7:55972174-55972350	GM12878	blood:	n/a	n/a
24	TBL1XR1	chr7:55972182-55972429	GM12878	blood:	n/a	n/a
25	ZNF143	chr7:55972177-55972307	GM12878	blood:	n/a	n/a
26	ZNF384	chr7:55971506-55972511	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ZNF713	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530740998	chr7:55971703-55971704	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs145716135	chr7:55971772-55971773	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201788320	chr7:55971773-55971774	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs551658332	chr7:55971782-55971783	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs567089554	chr7:55971809-55971810	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs183669226	chr7:55971907-55971908	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs571847710	chr7:55971916-55971917	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs7778138	chr7:55971971-55971972	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs571304117	chr7:55971991-55971992	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs538622833	chr7:55972011-55972012	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs144189409	chr7:55972085-55972086	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547732275	chr7:55972112-55972113	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs372294162	chr7:55972132-55972133	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs139468461	chr7:55972134-55972135	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs148272624	chr7:55972147-55972148	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555310124	chr7:55972148-55972149	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs141418223	chr7:55972152-55972153	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs71015118	chr7:55972176-55972177	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs138569605	chr7:55972182-55972183	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs79612537	chr7:55972188-55972189	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs566086512	chr7:55972198-55972199	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs540873512	chr7:55972247-55972248	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Glioblastoma multiforme	19115005	CNVD
Breast cancer	17142309	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55955400-56004200	Weak transcription	Gastric	stomach
2	chr7:55955800-55973800	Weak transcription	Left Ventricle	heart
3	chr7:55955800-55975000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:55955800-55985800	Weak transcription	Esophagus	oesophagus
5	chr7:55956000-55974200	Weak transcription	Aorta	Aorta
6	chr7:55956000-55979600	Weak transcription	Psoas Muscle	Psoas
7	chr7:55956200-55973800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:55956200-55974000	Weak transcription	Ovary	ovary
9	chr7:55956200-55974200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:55956200-55975200	Weak transcription	HSMMtube	muscle
11	chr7:55956200-55979400	Weak transcription	Primary T cells from cord blood	blood
12	chr7:55956200-55979600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:55956200-55990800	Weak transcription	Thymus	Thymus
14	chr7:55956200-56002200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:55956400-55973800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:55956400-55974400	Weak transcription	Adipose Nuclei	Adipose
17	chr7:55956400-55974800	Weak transcription	Fetal Kidney	kidney
18	chr7:55956400-55975000	Weak transcription	Liver	Liver
19	chr7:55956400-55979000	Weak transcription	Brain Substantia Nigra	brain
20	chr7:55956400-55979600	Weak transcription	Brain Angular Gyrus	brain
21	chr7:55956400-55979800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:55956400-55990600	Weak transcription	Brain Anterior Caudate	brain
23	chr7:55956400-55995800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:55956400-55998800	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:55956600-55974600	Weak transcription	Fetal Brain Male	brain
26	chr7:55956600-55979400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:55956600-55990800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:55961800-55979400	Weak transcription	Spleen	Spleen
29	chr7:55962000-55974000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:55962000-55990000	Weak transcription	HepG2	liver
31	chr7:55962000-55992800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:55962400-55974600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:55962600-55977800	Weak transcription	Fetal Heart	heart
34	chr7:55964600-55974600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:55966000-55974200	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:55966400-55973000	Weak transcription	Fetal Lung	lung
37	chr7:55966400-55974000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:55966400-55974000	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:55966600-55983800	Weak transcription	HUVEC	blood vessel
40	chr7:55966800-55979600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr7:55967600-55995800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:55968000-55975200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:55968200-55975200	Weak transcription	Fetal Intestine Small	intestine
44	chr7:55968400-55974000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:55968600-55995000	Weak transcription	HSMM	muscle
46	chr7:55969000-55974400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:55969000-55975000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:55969000-55985600	Weak transcription	Dnd41	blood
49	chr7:55969200-55974000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:55969400-55973800	Weak transcription	Fetal Intestine Large	intestine

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