Variant report

Variant	esv3418248
Chromosome Location	chr7:6899727-6907725
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	PAX5	chr7:6899619-6899835	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:6903998-6904181	GM12878	blood:	n/a	n/a
3	SPI1	chr7:6899629-6899823	GM12891	blood:	n/a	n/a
4	SPI1	chr7:6899632-6899756	GM12878	blood:	n/a	n/a
5	SPI1	chr7:6899547-6899808	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
UNC93B2	TF binding region
OR7E136P	TF binding region

Extended variants
information (count: 256 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183841869	chr7:6899728-6899729	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs189575784	chr7:6899732-6899733	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs538431773	chr7:6899742-6899743	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs28697293	chr7:6899744-6899745	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs149261435	chr7:6899749-6899750	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs550971531	chr7:6899757-6899758	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs185222014	chr7:6899759-6899760	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs190365810	chr7:6899763-6899764	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs554699350	chr7:6899773-6899774	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs181854822	chr7:6899777-6899778	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs386709858	chr7:6899796-6899797	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs140126754	chr7:6899798-6899799	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs118082197	chr7:6899812-6899813	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs188244060	chr7:6899814-6899815	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs180907632	chr7:6899831-6899832	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575649375	chr7:6899839-6899840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188434442	chr7:6899840-6899841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371080296	chr7:6899844-6899845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111671896	chr7:6899848-6899849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149614048	chr7:6899852-6899853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4345459	chr7:6899857-6899858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539937414	chr7:6899870-6899871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565021908	chr7:6899874-6899875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7811393	chr7:6899877-6899878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550595146	chr7:6899879-6899880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7810394	chr7:6899880-6899881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530281373	chr7:6899881-6899882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548491781	chr7:6899886-6899887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72506025	chr7:6899897-6899898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200799922	chr7:6899900-6899901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534155542	chr7:6899909-6899910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558760029	chr7:6899918-6899919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146779541	chr7:6899923-6899924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564016381	chr7:6899930-6899931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7794246	chr7:6899944-6899945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144245990	chr7:6899959-6899960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536517205	chr7:6899961-6899962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185597577	chr7:6899967-6899968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200480423	chr7:6899973-6899974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113223916	chr7:6899974-6899975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191252339	chr7:6899978-6899979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117703734	chr7:6899981-6899982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576834329	chr7:6899982-6899983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543972272	chr7:6899998-6899999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4724882	chr7:6900007-6900008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529654968	chr7:6900011-6900012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs55752967	chr7:6900014-6900015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560439458	chr7:6900015-6900016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550463638	chr7:6900016-6900017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs56335470	chr7:6900020-6900021	Weak transcription Enhancers	n/a	n/a	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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6895600-6899800	Weak transcription	Gastric	stomach
2	chr7:6895600-6901800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:6899600-6900600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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