Variant report

Variant	nsv824021
Chromosome Location	chr7:17637103-17675370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:17662491..17664335-chr7:17674964..17676646,2	K562	blood:
2	chr7:17657830..17658417-chr7:17668431..17669006,2	MCF-7	breast:
3	chr7:17661017..17663957-chr7:17664042..17665980,2	MCF-7	breast:
4	chr7:17595637..17596623-chr7:17657831..17658483,2	MCF-7	breast:
5	chr21:43784659..43785489-chr7:17669385..17670101,2	MCF-7	breast:
6	chr18:3406071..3406571-chr7:17665685..17666459,2	MCF-7	breast:
7	chr7:17674659..17676858-chr7:17678582..17681568,2	MCF-7	breast:
8	chr7:17661017..17663957-chr7:17664042..17665980,2	MCF-7	breast:
9	chr7:17657830..17658417-chr7:17668431..17669006,2	MCF-7	breast:
10	chr7:17662491..17664335-chr7:17674964..17676646,2	K562	blood:

No data

Extended variants
information (count: 1754 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1754 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557174886	chr7:17637115-17637116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568996639	chr7:17637137-17637138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539575652	chr7:17637184-17637185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139391458	chr7:17637185-17637186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185501903	chr7:17637189-17637190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540269507	chr7:17637235-17637236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141513737	chr7:17637255-17637256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189573135	chr7:17637294-17637295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549327402	chr7:17637316-17637317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180915444	chr7:17637410-17637411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563503519	chr7:17637452-17637453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530747052	chr7:17637493-17637494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545849268	chr7:17637499-17637500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564036127	chr7:17637514-17637515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528044222	chr7:17637556-17637557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185918215	chr7:17637562-17637563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111921640	chr7:17637563-17637564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529722972	chr7:17637570-17637571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190257487	chr7:17637572-17637573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181269003	chr7:17637603-17637604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550743095	chr7:17637611-17637612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547308300	chr7:17637614-17637615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114280450	chr7:17637626-17637627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139501589	chr7:17637655-17637656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558182213	chr7:17637663-17637664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566897275	chr7:17637682-17637683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534186290	chr7:17637692-17637693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149694802	chr7:17637705-17637706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74685833	chr7:17637711-17637712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540899396	chr7:17637732-17637733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186243690	chr7:17637769-17637770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72161799	chr7:17637822-17637823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs55725804	chr7:17637823-17637824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12534316	chr7:17637834-17637835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575469834	chr7:17637871-17637872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190563743	chr7:17637906-17637907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs16871704	chr7:17637921-17637922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs76272059	chr7:17637949-17637950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540210944	chr7:17637966-17637967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79718282	chr7:17638038-17638039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528882436	chr7:17638064-17638065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541772977	chr7:17638080-17638081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550818662	chr7:17638092-17638093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563543213	chr7:17638118-17638119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73309678	chr7:17638157-17638158	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551726218	chr7:17638171-17638172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1230426	chr7:17638174-17638175	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146168574	chr7:17638218-17638219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78178066	chr7:17638254-17638255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567630782	chr7:17638258-17638259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17634000-17638400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:17634000-17638600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:17634200-17638800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:17634800-17638400	Weak transcription	NHDF-Ad	bronchial
5	chr7:17637000-17637400	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr7:17637000-17639400	Enhancers	Hela-S3	cervix
7	chr7:17637200-17638200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr7:17637400-17639400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:17638000-17639200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:17638000-17639200	Enhancers	NHEK	skin
11	chr7:17638000-17639600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:17638000-17640200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:17638000-17641600	Enhancers	Stomach Mucosa	stomach
14	chr7:17638000-17642000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:17638000-17642200	Enhancers	HMEC	breast
16	chr7:17638000-17643000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:17638200-17639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:17638400-17639600	Enhancers	Osteobl	bone
19	chr7:17638400-17641800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:17638400-17642200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:17638400-17642200	Enhancers	NHDF-Ad	bronchial
22	chr7:17638600-17639600	Enhancers	A549	lung
23	chr7:17638600-17640600	Enhancers	NH-A	brain
24	chr7:17638600-17641000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:17638600-17641200	Enhancers	NHLF	lung
26	chr7:17638800-17640800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:17639200-17639800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:17639200-17640400	Flanking Active TSS	NHEK	skin
29	chr7:17639400-17640000	Flanking Active TSS	Hela-S3	cervix
30	chr7:17639400-17640200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr7:17639400-17640400	Enhancers	HepG2	liver
32	chr7:17639400-17640400	Enhancers	HSMMtube	muscle
33	chr7:17639400-17640400	Enhancers	HUVEC	blood vessel
34	chr7:17639400-17640600	Enhancers	HSMM	muscle
35	chr7:17639400-17640800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:17639600-17639800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr7:17639600-17640000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr7:17639600-17640000	Flanking Active TSS	Osteobl	bone
39	chr7:17639600-17640400	Flanking Active TSS	A549	lung
40	chr7:17639600-17641000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:17639800-17640200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:17639800-17642800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:17640000-17640400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr7:17640000-17640800	Enhancers	Osteobl	bone
45	chr7:17640000-17641200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:17640000-17642600	Enhancers	Hela-S3	cervix
47	chr7:17640200-17640400	Enhancers	Placenta	Placenta
48	chr7:17640400-17640600	Enhancers	A549	lung
49	chr7:17640400-17641400	Weak transcription	Placenta	Placenta
50	chr7:17640400-17642600	Enhancers	NHEK	skin

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