Variant report

Variant	esv17022
Chromosome Location	chr7:7924165-7926172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145886338	chr7:7924173-7924174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539121876	chr7:7924180-7924181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376203093	chr7:7924186-7924187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576172901	chr7:7924188-7924189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192252466	chr7:7924235-7924236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11761799	chr7:7924284-7924285	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs536642265	chr7:7924330-7924331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7778555	chr7:7924362-7924363	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184778110	chr7:7924396-7924397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188029965	chr7:7924457-7924458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552857928	chr7:7924468-7924469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568029999	chr7:7924531-7924532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7778980	chr7:7924642-7924643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17563229	chr7:7924648-7924649	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs546589716	chr7:7924658-7924659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77954913	chr7:7924659-7924660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73347360	chr7:7924661-7924662	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114862079	chr7:7924714-7924715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138705564	chr7:7924715-7924716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78258682	chr7:7924752-7924753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548093851	chr7:7924771-7924772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565890695	chr7:7924780-7924781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7778134	chr7:7924797-7924798	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs78948947	chr7:7924800-7924801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570723787	chr7:7924846-7924847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569409239	chr7:7924875-7924876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376206074	chr7:7924877-7924878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73061574	chr7:7924885-7924886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191343376	chr7:7924887-7924888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567268298	chr7:7924933-7924934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534584251	chr7:7924943-7924944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73061575	chr7:7924968-7924969	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs79075022	chr7:7924974-7924975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184679539	chr7:7924982-7924983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147287724	chr7:7925001-7925002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568586481	chr7:7925016-7925017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573991613	chr7:7925076-7925077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375531781	chr7:7925095-7925096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73347362	chr7:7925097-7925098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561909290	chr7:7925151-7925152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148807891	chr7:7925165-7925166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73347364	chr7:7925183-7925184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189544500	chr7:7925186-7925187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs202035581	chr7:7925207-7925208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150474414	chr7:7925210-7925211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145003654	chr7:7925212-7925213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77908006	chr7:7925223-7925224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76836088	chr7:7925224-7925225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79460951	chr7:7925225-7925226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181130621	chr7:7925259-7925260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7897200-7942400	Weak transcription	Aorta	Aorta
2	chr7:7909600-7942400	Weak transcription	Left Ventricle	heart
3	chr7:7911600-7934800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:7911600-7934800	Weak transcription	Pancreas	Pancrea
5	chr7:7912200-7930000	Weak transcription	Esophagus	oesophagus
6	chr7:7912200-7934600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:7912600-7924200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:7913200-7942400	Weak transcription	Primary T cells from cord blood	blood
9	chr7:7915800-7943000	Weak transcription	Gastric	stomach
10	chr7:7922400-7924800	Enhancers	Primary B cells from cord blood	blood
11	chr7:7923200-7926600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:7923400-7924600	Weak transcription	Ovary	ovary
13	chr7:7923600-7925200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:7924200-7924800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:7924200-7925000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:7924400-7924800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:7924400-7924800	Enhancers	Hela-S3	cervix
18	chr7:7924600-7925400	Enhancers	Ovary	ovary
19	chr7:7924800-7931200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:7924800-7932600	Weak transcription	Primary B cells from cord blood	blood
21	chr7:7924800-7933600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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