Variant report

Variant	esv3477098
Chromosome Location	chr7:5770976-5771550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 78 )

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	rs529241948	chr7:5770989-5770990	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187794895	chr7:5771006-5771007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4724716	chr7:5771007-5771008	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551660847	chr7:5771038-5771039	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187445671	chr7:5771061-5771062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190426012	chr7:5771088-5771089	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551650230	chr7:5771121-5771122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570551791	chr7:5771162-5771163	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537574846	chr7:5771165-5771166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556281643	chr7:5771167-5771168	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537398446	chr7:5771170-5771171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375485907	chr7:5771174-5771175	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548682464	chr7:5771236-5771237	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568107111	chr7:5771291-5771292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373855177	chr7:5771333-5771334	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199719941	chr7:5771359-5771360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28375631	chr7:5771378-5771379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28679826	chr7:5771388-5771389	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189792392	chr7:5771389-5771390	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557694869	chr7:5771472-5771473	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570796588	chr7:5771525-5771526	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17135721	chr7:5771546-5771547	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	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
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	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
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5737600-5774200	Strong transcription	Dnd41	blood
2	chr7:5746000-5771200	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr7:5753200-5794400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:5755000-5780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:5758800-5771000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:5761600-5785600	Weak transcription	Fetal Brain Male	brain
7	chr7:5761800-5783000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:5762000-5820400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:5762200-5777200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:5762800-5786000	Weak transcription	Fetal Kidney	kidney
11	chr7:5762800-5790200	Weak transcription	Small Intestine	intestine
12	chr7:5763600-5773000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:5765200-5778400	Weak transcription	NHEK	skin
14	chr7:5765200-5780600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:5765200-5790400	Weak transcription	Psoas Muscle	Psoas
16	chr7:5767400-5780000	Weak transcription	Brain Germinal Matrix	brain
17	chr7:5767400-5780200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:5767600-5778400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:5768600-5773000	Strong transcription	Hela-S3	cervix
20	chr7:5768800-5776600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:5768800-5778400	Weak transcription	Left Ventricle	heart
22	chr7:5768800-5778600	Weak transcription	Lung	lung
23	chr7:5768800-5780600	Weak transcription	Esophagus	oesophagus
24	chr7:5768800-5798200	Weak transcription	Colonic Mucosa	Colon
25	chr7:5769000-5771000	Weak transcription	GM12878-XiMat	blood
26	chr7:5769000-5777000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:5769000-5778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:5769000-5778600	Weak transcription	Fetal Brain Female	brain
29	chr7:5769000-5783800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:5769000-5785600	Weak transcription	Brain Angular Gyrus	brain
31	chr7:5769200-5771000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:5769200-5771400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:5769200-5771600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:5769200-5772000	Weak transcription	Fetal Stomach	stomach
35	chr7:5769200-5772200	Weak transcription	Osteobl	bone
36	chr7:5769200-5772400	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:5769200-5775200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:5769200-5775400	Weak transcription	Fetal Intestine Small	intestine
39	chr7:5769200-5775800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:5769200-5776800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:5769200-5777200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:5769200-5777200	Weak transcription	HSMMtube	muscle
43	chr7:5769200-5778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:5769200-5778400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:5769200-5778400	Weak transcription	NHLF	lung
46	chr7:5769200-5778600	Weak transcription	Brain Substantia Nigra	brain
47	chr7:5769200-5778800	Weak transcription	HUVEC	blood vessel
48	chr7:5769200-5779200	Weak transcription	Ovary	ovary
49	chr7:5769200-5779400	Weak transcription	Spleen	Spleen
50	chr7:5769200-5779800	Weak transcription	Aorta	Aorta

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