Variant report

Variant	esv3357449
Chromosome Location	chr7:7030313-7030642
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	ATF1	chr7:7030191-7030411	K562	blood:	n/a	n/a
2	BATF	chr7:7030101-7030522	GM12878	blood:	n/a	n/a
3	BATF	chr7:7030120-7030540	GM12878	blood:	n/a	n/a
4	BCL11A	chr7:7030103-7030575	GM12878	blood:	n/a	n/a
5	BCL11A	chr7:7030165-7030615	GM12878	blood:	n/a	n/a
6	BHLHE40	chr7:7030288-7030351	GM12878	blood:	n/a	n/a
7	EBF1	chr7:7030133-7030470	GM12878	blood:	n/a	n/a
8	EBF1	chr7:7030165-7030567	GM12878	blood:	n/a	n/a
9	EP300	chr7:7030291-7030647	GM12878	blood:	n/a	n/a
10	GATA2	chr7:7030087-7030583	K562	blood:	n/a	n/a
11	HEY1	chr7:7030621-7030987	K562	blood:	n/a	n/a
12	IRF1	chr7:7030131-7030443	K562	blood:	n/a	n/a
13	IRF1	chr7:7030243-7030387	K562	blood:	n/a	n/a
14	IRF4	chr7:7030038-7030573	GM12878	blood:	n/a	n/a
15	IRF4	chr7:7030095-7030604	GM12878	blood:	n/a	n/a
16	JUN	chr7:7030126-7030424	K562	blood:	n/a	n/a
17	JUND	chr7:7030183-7030355	K562	blood:	n/a	n/a
18	PAX5	chr7:7030098-7030620	GM12878	blood:	n/a	n/a
19	PAX5	chr7:7030034-7030565	GM12878	blood:	n/a	n/a
20	PBX3	chr7:7030258-7030367	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:7030503-7031867	H1-hESC	embryonic stem cell:	n/a	n/a
22	POU2F2	chr7:7030036-7031264	GM12878	blood:	n/a	n/a
23	RXRA	chr7:7030165-7030592	GM12878	blood:	n/a	n/a
24	SP1	chr7:7030099-7030506	GM12878	blood:	n/a	n/a
25	SP1	chr7:7030094-7030539	GM12878	blood:	n/a	n/a
26	SPI1	chr7:7030200-7030491	GM12878	blood:	n/a	n/a
27	TCF12	chr7:7030168-7030338	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000221011	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201152321	chr7:7030329-7030330	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs199734412	chr7:7030330-7030331	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs547243544	chr7:7030334-7030335	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs34546043	chr7:7030341-7030342	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540886836	chr7:7030357-7030358	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547394639	chr7:7030360-7030361	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs138315845	chr7:7030363-7030364	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs186415301	chr7:7030379-7030380	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs117029363	chr7:7030380-7030381	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs117359336	chr7:7030382-7030383	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs371927037	chr7:7030398-7030399	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs142142914	chr7:7030426-7030427	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs150777922	chr7:7030443-7030444	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs34077097	chr7:7030455-7030456	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573238571	chr7:7030477-7030478	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs141496270	chr7:7030480-7030481	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs146416243	chr7:7030499-7030500	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs143228489	chr7:7030517-7030518	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs140848330	chr7:7030528-7030529	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs148331633	chr7:7030547-7030548	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs79562899	chr7:7030564-7030565	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs141465120	chr7:7030585-7030586	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs73341189	chr7:7030590-7030591	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs538170803	chr7:7030595-7030596	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs146220887	chr7:7030634-7030635	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs190823816	chr7:7030640-7030641	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7027800-7030800	Enhancers	K562	blood
2	chr7:7028000-7030600	Weak transcription	Fetal Lung	lung
3	chr7:7028200-7031000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:7029400-7030400	Enhancers	Fetal Intestine Small	intestine
5	chr7:7029600-7030400	Enhancers	Duodenum Mucosa	Duodenum
6	chr7:7029600-7031400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:7029600-7031400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:7029800-7030400	Weak transcription	Fetal Intestine Large	intestine
9	chr7:7029800-7030800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:7029800-7032200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr7:7030000-7031000	Weak transcription	HepG2	liver
12	chr7:7030200-7030800	Weak transcription	Fetal Heart	heart
13	chr7:7030200-7030800	Enhancers	NHEK	skin
14	chr7:7030200-7031000	Weak transcription	Stomach Mucosa	stomach
15	chr7:7030200-7031800	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr7:7030200-7032200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:7030400-7030600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:7030400-7031200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:7030400-7031800	Active TSS	Fetal Intestine Large	intestine
20	chr7:7030400-7032400	Active TSS	Fetal Intestine Small	intestine
21	chr7:7030600-7030800	Enhancers	Fetal Kidney	kidney
22	chr7:7030600-7030800	Enhancers	Fetal Lung	lung
23	chr7:7030600-7031000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr7:7030600-7031400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:7030600-7031600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr7:7030600-7032600	Active TSS	Duodenum Mucosa	Duodenum

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