Variant report

Variant	esv3423380
Chromosome Location	chr7:7531827-7533925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7530006..7532448-chr7:7539748..7541894,2	MCF-7	breast:
2	chr7:7532093..7533691-chr7:7544218..7547045,2	MCF-7	breast:
3	chr7:7521873..7525191-chr7:7530979..7533379,3	MCF-7	breast:
4	chr7:7531005..7532947-chr7:7534688..7536787,2	K562	blood:
5	chr7:7528603..7532505-chr7:7533349..7536188,3	K562	blood:
6	chr7:7528603..7532505-chr7:7533349..7536188,3	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534305826	chr7:7531829-7531830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188101235	chr7:7531906-7531907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116402251	chr7:7531910-7531911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149921354	chr7:7531917-7531918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147643003	chr7:7531927-7531928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192726401	chr7:7531945-7531946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184752023	chr7:7531963-7531964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189957935	chr7:7531971-7531972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6651079	chr7:7532036-7532037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570932989	chr7:7532061-7532062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552891603	chr7:7532108-7532109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111276891	chr7:7532109-7532110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557026950	chr7:7532143-7532144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181679125	chr7:7532172-7532173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538308891	chr7:7532241-7532242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546068491	chr7:7532242-7532243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147146687	chr7:7532243-7532244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78666751	chr7:7532244-7532245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76218801	chr7:7532245-7532246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76864093	chr7:7532261-7532262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554839433	chr7:7532271-7532272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573053752	chr7:7532331-7532332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185738534	chr7:7532373-7532374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115404887	chr7:7532374-7532375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373148545	chr7:7532391-7532392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77445534	chr7:7532397-7532398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189029779	chr7:7532401-7532402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73352222	chr7:7532414-7532415	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368691839	chr7:7532455-7532456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563695712	chr7:7532456-7532457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4320465	chr7:7532464-7532465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs7459128	chr7:7532543-7532544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs2024000	chr7:7532600-7532601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144253041	chr7:7532623-7532624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76335518	chr7:7532643-7532644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181738569	chr7:7532657-7532658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571805958	chr7:7532660-7532661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201903778	chr7:7532689-7532690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551710395	chr7:7532690-7532691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs59416586	chr7:7532702-7532703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201909975	chr7:7532717-7532718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532136263	chr7:7532784-7532785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550346860	chr7:7532807-7532808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568820319	chr7:7532817-7532818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368138695	chr7:7532847-7532848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78023299	chr7:7532868-7532869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34802316	chr7:7532870-7532871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578251829	chr7:7532909-7532910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545705328	chr7:7532966-7532967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147769551	chr7:7532996-7532997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7528000-7545600	Weak transcription	Placenta	Placenta
2	chr7:7528600-7575400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:7528800-7532200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:7529000-7532000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:7529000-7532200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:7529000-7532200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:7529000-7557600	Weak transcription	Pancreas	Pancrea
8	chr7:7529200-7532200	Enhancers	HSMM	muscle
9	chr7:7529200-7533600	Enhancers	Hela-S3	cervix
10	chr7:7529400-7532200	Enhancers	NHDF-Ad	bronchial
11	chr7:7529400-7533800	Enhancers	Osteobl	bone
12	chr7:7529800-7533800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:7530400-7532800	Weak transcription	HMEC	breast
14	chr7:7530800-7532200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:7531200-7532200	Enhancers	Fetal Intestine Small	intestine
16	chr7:7531200-7532200	Enhancers	A549	lung
17	chr7:7531400-7533000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:7531400-7533000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:7531600-7532400	Weak transcription	NHLF	lung
20	chr7:7531800-7532000	Enhancers	NH-A	brain
21	chr7:7531800-7532800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:7531800-7533000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:7531800-7533600	Enhancers	Fetal Intestine Large	intestine
24	chr7:7531800-7537400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:7531800-7539200	Weak transcription	HepG2	liver
26	chr7:7532000-7532400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:7532200-7532600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:7532200-7532600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:7532200-7532600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:7532200-7532600	Weak transcription	Fetal Intestine Small	intestine
31	chr7:7532200-7532600	Weak transcription	A549	lung
32	chr7:7532200-7532600	Weak transcription	HSMM	muscle
33	chr7:7532200-7532600	Weak transcription	NH-A	brain
34	chr7:7532200-7532600	Weak transcription	NHDF-Ad	bronchial
35	chr7:7532200-7533400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:7532200-7533800	Enhancers	NHEK	skin
37	chr7:7532400-7533600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:7532400-7533600	Enhancers	NHLF	lung
39	chr7:7532600-7533200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:7532600-7533200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:7532600-7533400	Enhancers	A549	lung
42	chr7:7532600-7533400	Enhancers	HSMM	muscle
43	chr7:7532600-7533600	Enhancers	Fetal Intestine Small	intestine
44	chr7:7532600-7533800	Enhancers	NHDF-Ad	bronchial
45	chr7:7532600-7534000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:7532800-7533400	Enhancers	HMEC	breast
47	chr7:7532800-7533600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:7532800-7533600	Enhancers	Duodenum Mucosa	Duodenum
49	chr7:7533000-7533200	Enhancers	NH-A	brain
50	chr7:7533000-7533400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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