Variant report

Variant	esv1826252
Chromosome Location	chr7:66613751-66637001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 960 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:960 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7783888	chr7:66613751-66613752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs62464964	chr7:66613772-66613773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs540484778	chr7:66613780-66613781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186990804	chr7:66613811-66613812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528474860	chr7:66613965-66613966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146847689	chr7:66613974-66613975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565356361	chr7:66613977-66613978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111531424	chr7:66613984-66613985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550775435	chr7:66613998-66613999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6460330	chr7:66614003-66614004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs536597921	chr7:66614037-66614038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546880562	chr7:66614048-66614049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553581521	chr7:66614088-66614089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61512694	chr7:66614122-66614123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566380646	chr7:66614142-66614143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538606876	chr7:66614146-66614147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566998579	chr7:66614180-66614181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558240769	chr7:66614252-66614253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575312933	chr7:66614261-66614262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6974485	chr7:66614306-66614307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs555737638	chr7:66614343-66614344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574681104	chr7:66614380-66614381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199559604	chr7:66614403-66614404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6978918	chr7:66614462-66614463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs554091117	chr7:66614487-66614488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573182395	chr7:66614503-66614504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs67607583	chr7:66614557-66614558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545404960	chr7:66614656-66614657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2690209	chr7:66614693-66614694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201725802	chr7:66614701-66614702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80329297	chr7:66614702-66614703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377189951	chr7:66614708-66614709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373817569	chr7:66614709-66614710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72209720	chr7:66614710-66614711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537814476	chr7:66614725-66614726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531040031	chr7:66614733-66614734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369187182	chr7:66614760-66614761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs59266321	chr7:66614762-66614763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4718460	chr7:66614763-66614764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs2844188	chr7:66614769-66614770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544299122	chr7:66614788-66614789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561188577	chr7:66614816-66614817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2949156	chr7:66614830-66614831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183342703	chr7:66614869-66614870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62464965	chr7:66614883-66614884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2687023	chr7:66614897-66614898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs373631876	chr7:66614961-66614962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567176156	chr7:66614990-66614991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112588418	chr7:66614999-66615000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs2844186	chr7:66615044-66615045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66533800-66623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:66545600-66616600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:66550000-66624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:66576600-66616600	Weak transcription	Fetal Stomach	stomach
5	chr7:66584400-66624400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:66585000-66622400	Weak transcription	HSMM	muscle
7	chr7:66585000-66623600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:66585200-66627200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:66591400-66620000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:66591600-66626400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:66594000-66622000	Weak transcription	Pancreas	Pancrea
12	chr7:66594200-66623800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:66594600-66614800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:66594600-66615800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:66594600-66617800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:66594600-66620200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:66594600-66621800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:66594800-66623000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:66594800-66626800	Weak transcription	Dnd41	blood
20	chr7:66595000-66618800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:66595000-66627400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:66595200-66616400	Weak transcription	GM12878-XiMat	blood
23	chr7:66595400-66620400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:66595600-66616600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr7:66596000-66618800	Weak transcription	Fetal Intestine Large	intestine
26	chr7:66596000-66619200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr7:66596000-66620200	Weak transcription	Primary B cells from cord blood	blood
28	chr7:66596000-66620400	Weak transcription	Adipose Nuclei	Adipose
29	chr7:66598600-66616400	Weak transcription	Fetal Intestine Small	intestine
30	chr7:66600400-66623400	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:66600800-66625000	Weak transcription	Left Ventricle	heart
32	chr7:66603200-66617000	Weak transcription	Primary T cells from cord blood	blood
33	chr7:66603200-66626600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:66604600-66624000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:66608800-66614000	Weak transcription	Fetal Heart	heart
36	chr7:66608800-66614800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:66608800-66628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:66608800-66632600	Weak transcription	Ovary	ovary
39	chr7:66609800-66620400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:66609800-66624400	Weak transcription	Liver	Liver
41	chr7:66612000-66619600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:66612000-66620200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:66612400-66627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:66613200-66626400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:66613600-66614200	Enhancers	K562	blood
46	chr7:66614000-66614400	Enhancers	Fetal Heart	heart
47	chr7:66614200-66614400	Enhancers	Primary hematopoietic stem cells	blood
48	chr7:66614200-66628000	Weak transcription	K562	blood
49	chr7:66614400-66614600	Weak transcription	Fetal Heart	heart
50	chr7:66614400-66618800	Weak transcription	Primary hematopoietic stem cells	blood

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