Variant report

Variant	esv32771
Chromosome Location	chr7:18333448-18337676
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	BHLHE40	chr7:18335718-18335912	GM12878	blood:	n/a	chr7:18335758-18335779 chr7:18335763-18335772
2	CTCF	chr7:18335806-18335950	GM12878	blood:	n/a	chr7:18335831-18335844
3	CTCF	chr7:18335796-18335882	Lung_OC	lung:	n/a	chr7:18335831-18335844
4	CTCF	chr7:18335820-18335970	HEEpiC	esophagus:	n/a	chr7:18335831-18335844
5	CTCF	chr7:18335700-18335850	GM12871	blood:	n/a	chr7:18335831-18335844
6	CTCF	chr7:18335780-18335930	MCF-7	breast:	n/a	chr7:18335831-18335844
7	CTCF	chr7:18335740-18335890	HCPEpiC	choroid plexus:	n/a	chr7:18335831-18335844
8	CTCF	chr7:18335747-18335962	Spleen_OC	spleen:	n/a	chr7:18335831-18335844
9	CTCF	chr7:18335824-18335875	GM10248	blood:	n/a	chr7:18335831-18335844
10	CTCF	chr7:18335787-18335920	K562	blood:	n/a	chr7:18335831-18335844
11	CTCF	chr7:18335828-18335865	GM12878	blood:	n/a	chr7:18335831-18335844
12	CTCF	chr7:18335800-18335950	AG09319	gingival:	n/a	chr7:18335831-18335844
13	CTCF	chr7:18335680-18335830	NHDF-neo	bronchial:	n/a	n/a
14	CTCF	chr7:18335740-18335890	AG10803	skin:	n/a	chr7:18335831-18335844
15	CTCF	chr7:18335725-18335961	K562	blood:	n/a	chr7:18335831-18335844
16	CTCF	chr7:18335832-18335879	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr7:18335740-18335890	AoAF	blood vessel:	n/a	chr7:18335831-18335844
18	IRF1	chr7:18336739-18336747	K562	blood:	n/a	n/a
19	MXI1	chr7:18334006-18334189	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:18337584-18337612	MCF10A-Er-Src	breast:	n/a	n/a
21	RAD21	chr7:18335729-18335912	GM12878	blood:	n/a	n/a
22	RAD21	chr7:18335755-18335927	SK-N-SH_RA	brain:	n/a	n/a
23	RAD21	chr7:18335676-18335982	Hela-S3	cervix:	n/a	n/a
24	SMC3	chr7:18335703-18335955	Hela-S3	cervix:	n/a	n/a
25	TBL1XR1	chr7:18336642-18336762	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000223030	TF binding region

Extended variants
information (count: 172 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536059519	chr7:18333486-18333487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554807873	chr7:18333487-18333488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576275082	chr7:18333490-18333491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs659920	chr7:18333507-18333508	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554324729	chr7:18333535-18333536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376170318	chr7:18333579-18333580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576129536	chr7:18333617-18333618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2960783	chr7:18333696-18333697	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs143805306	chr7:18333747-18333748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562564141	chr7:18333768-18333769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560264225	chr7:18333819-18333820	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs114870818	chr7:18333845-18333846	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs549322952	chr7:18333901-18333902	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs78939046	chr7:18333953-18333954	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs531887270	chr7:18333963-18333964	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs536648043	chr7:18333971-18333972	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs541422724	chr7:18334018-18334019	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs180830966	chr7:18334023-18334024	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs561387881	chr7:18334036-18334037	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs558160812	chr7:18334039-18334040	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs185869166	chr7:18334040-18334041	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs527964698	chr7:18334045-18334046	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs140092524	chr7:18334055-18334056	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs145961520	chr7:18334075-18334076	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs376895655	chr7:18334093-18334094	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs139505756	chr7:18334136-18334137	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs569861697	chr7:18334137-18334138	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs541353611	chr7:18334170-18334171	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs880519	chr7:18334218-18334219	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533527726	chr7:18334231-18334232	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs558464166	chr7:18334268-18334269	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs577614054	chr7:18334277-18334278	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs75490366	chr7:18334293-18334294	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs190235057	chr7:18334296-18334297	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs572465300	chr7:18334302-18334303	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs576713905	chr7:18334305-18334306	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs149702447	chr7:18334327-18334328	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs561306043	chr7:18334342-18334343	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs115318626	chr7:18334373-18334374	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs116660351	chr7:18334386-18334387	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs569769129	chr7:18334517-18334518	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs74384274	chr7:18334523-18334524	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs117157548	chr7:18334544-18334545	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs566105654	chr7:18334555-18334556	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs547431074	chr7:18334565-18334566	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs370091253	chr7:18334569-18334570	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs565754379	chr7:18334576-18334577	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs182788705	chr7:18334661-18334662	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs114604200	chr7:18334692-18334693	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs187012038	chr7:18334693-18334694	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Melanoma	18172304	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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18330800-18334200	Weak transcription	Right Ventricle	heart
2	chr7:18331600-18336600	Weak transcription	Aorta	Aorta
3	chr7:18332600-18334000	Weak transcription	Adipose Nuclei	Adipose
4	chr7:18332600-18336200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:18332600-18336600	Enhancers	Primary hematopoietic stem cells	blood
6	chr7:18332800-18334200	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:18332800-18334400	Enhancers	Fetal Heart	heart
8	chr7:18332800-18334600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:18333000-18334200	Enhancers	Primary B cells from cord blood	blood
10	chr7:18333000-18335200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:18333000-18337600	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:18333000-18337800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:18333400-18333800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr7:18333400-18335400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:18333800-18335000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr7:18334000-18334200	Enhancers	Thymus	Thymus
17	chr7:18334000-18334400	Enhancers	Adipose Nuclei	Adipose
18	chr7:18334200-18334400	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr7:18334200-18334400	Enhancers	Colon Smooth Muscle	Colon
20	chr7:18334200-18334400	Bivalent Enhancer	Ovary	ovary
21	chr7:18334200-18334600	Enhancers	Right Ventricle	heart
22	chr7:18334400-18335600	Enhancers	Primary B cells from cord blood	blood
23	chr7:18334600-18345600	Weak transcription	Right Ventricle	heart
24	chr7:18335000-18335400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr7:18335200-18336600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:18335400-18335600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:18335400-18335800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr7:18335600-18336000	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr7:18335600-18336600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:18335800-18336000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr7:18336000-18336400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr7:18336000-18337000	Enhancers	Primary B cells from cord blood	blood
33	chr7:18336000-18337200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:18336400-18336800	Enhancers	K562	blood
35	chr7:18336400-18337200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr7:18336600-18336800	Enhancers	Aorta	Aorta
37	chr7:18336600-18348400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:18337000-18355200	Weak transcription	Primary B cells from cord blood	blood
39	chr7:18337200-18341000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:18337600-18342000	Weak transcription	Primary B cells from peripheral blood	blood

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