Variant report

Variant	nsv1017573
Chromosome Location	chr7:97420637-97452527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:97424753..97427686-chr7:97428619..97431033,2	K562	blood:
2	chr7:97424753..97427686-chr7:97428619..97431033,2	K562	blood:
3	chr7:96946869..96947558-chr7:97448317..97449019,2	MCF-7	breast:

Extended variants
information (count: 101 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141174333	chr7:97427012-97427013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184115375	chr7:97427109-97427110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561010601	chr7:97427129-97427130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75148331	chr7:97427130-97427131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539825497	chr7:97427139-97427140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559646616	chr7:97427158-97427159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189819568	chr7:97427187-97427188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181082654	chr7:97427190-97427191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139234679	chr7:97427197-97427198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545622075	chr7:97427203-97427204	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565345075	chr7:97427209-97427210	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs531090700	chr7:97427251-97427252	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs1234947	chr7:97427317-97427318	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs75047676	chr7:97427327-97427328	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530153234	chr7:97427359-97427360	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546995924	chr7:97427369-97427370	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs566820139	chr7:97427408-97427409	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs10269510	chr7:97427422-97427423	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12113519	chr7:97427423-97427424	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2665438	chr7:97427426-97427427	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2530164	chr7:97427431-97427432	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs374325859	chr7:97427467-97427468	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs376071174	chr7:97427472-97427473	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs557882096	chr7:97427474-97427475	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs574172626	chr7:97427484-97427485	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs539886802	chr7:97427524-97427525	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs1237625	chr7:97427548-97427549	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs370117709	chr7:97427553-97427554	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs545377546	chr7:97427558-97427559	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs113669951	chr7:97427575-97427576	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs564419306	chr7:97427609-97427610	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs17169102	chr7:97427634-97427635	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186103937	chr7:97427644-97427645	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs561397384	chr7:97427685-97427686	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs144030426	chr7:97427713-97427714	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547057304	chr7:97427770-97427771	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs566881456	chr7:97427840-97427841	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs532508592	chr7:97427858-97427859	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs190631069	chr7:97427882-97427883	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs78933292	chr7:97427894-97427895	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs17271261	chr7:97427932-97427933	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs181962804	chr7:97427964-97427965	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs186340724	chr7:97427974-97427975	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs58472295	chr7:97427976-97427977	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs117116754	chr7:97428008-97428009	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs73139195	chr7:97428031-97428032	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs562445909	chr7:97428060-97428061	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs190735180	chr7:97428094-97428095	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs576455513	chr7:97428100-97428101	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs74432517	chr7:97428101-97428102	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Wilms tumour	21544195	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
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97427000-97428800	Enhancers	Duodenum Mucosa	Duodenum
2	chr7:97427200-97427600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr7:97427200-97428000	Enhancers	Pancreas	Pancrea
4	chr7:97427200-97428400	Enhancers	Fetal Intestine Small	intestine
5	chr7:97427200-97428600	Enhancers	Fetal Intestine Large	intestine
6	chr7:97427400-97428200	Enhancers	HepG2	liver
7	chr7:97427600-97427800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr7:97427800-97428000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:97427800-97428600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr7:97428000-97428800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr7:97428200-97428600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:97428200-97428800	Enhancers	Colonic Mucosa	Colon
13	chr7:97435800-97436200	ZNF genes & repeats	Aorta	Aorta
14	chr7:97447600-97448000	Enhancers	HUES64 Cell Line	embryonic stem cell

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