Variant report

Variant	nsv970767
Chromosome Location	chr7:110188474-110189770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:110182691..110184718-chr7:110187881..110190742,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374282106	chr7:110188478-110188479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571180677	chr7:110188503-110188504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540162790	chr7:110188506-110188507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115143610	chr7:110188521-110188522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573396082	chr7:110188531-110188532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151084688	chr7:110188551-110188552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141118172	chr7:110188561-110188562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376312186	chr7:110188562-110188563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76464638	chr7:110188583-110188584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544223138	chr7:110188630-110188631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554369148	chr7:110188642-110188643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191168464	chr7:110188662-110188663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10249554	chr7:110188743-110188744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560292116	chr7:110188783-110188784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529081578	chr7:110188785-110188786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549022350	chr7:110188819-110188820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1911710	chr7:110188835-110188836	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114815953	chr7:110188849-110188850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548170322	chr7:110188869-110188870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551373386	chr7:110188880-110188881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571297235	chr7:110188886-110188887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540114683	chr7:110188896-110188897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79433935	chr7:110188910-110188911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111709816	chr7:110188932-110188933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72343009	chr7:110188933-110188934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78408164	chr7:110188946-110188947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567005007	chr7:110188953-110188954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535689077	chr7:110188969-110188970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375338112	chr7:110189034-110189035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555415688	chr7:110189041-110189042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10265390	chr7:110189043-110189044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537985251	chr7:110189048-110189049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182502458	chr7:110189061-110189062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577663496	chr7:110189081-110189082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540475330	chr7:110189097-110189098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539960914	chr7:110189112-110189113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73205276	chr7:110189113-110189114	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530516226	chr7:110189130-110189131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1911711	chr7:110189156-110189157	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570570849	chr7:110189167-110189168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542478390	chr7:110189195-110189196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562699742	chr7:110189200-110189201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540836208	chr7:110189211-110189212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531416955	chr7:110189234-110189235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113748302	chr7:110189280-110189281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559074379	chr7:110189293-110189294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192012682	chr7:110189294-110189295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527289240	chr7:110189303-110189304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184624597	chr7:110189307-110189308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367732254	chr7:110189317-110189318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110184400-110188600	Weak transcription	HMEC	breast
2	chr7:110188000-110189000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:110188000-110189200	Enhancers	NHEK	skin
4	chr7:110188200-110188600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:110188200-110188800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:110188200-110189000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:110188400-110188800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:110188600-110189000	Enhancers	HMEC	breast
9	chr7:110188800-110197000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:110189000-110194600	Weak transcription	HMEC	breast

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