Variant report

Variant	nsv606344
Chromosome Location	chr7:17133514-17198181
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:17174176..17175703-chr7:17181460..17183811,2	MCF-7	breast:
2	chr7:17187103..17188839-chr7:17190242..17191952,2	K562	blood:
3	chr7:17174176..17175703-chr7:17181460..17183811,2	MCF-7	breast:
4	chr7:17022004..17022890-chr7:17197303..17198260,4	MCF-7	breast:
5	chr7:17166582..17168256-chr7:17172777..17175258,2	K562	blood:
6	chr7:17136133..17137910-chr7:17145966..17147609,2	MCF-7	breast:
7	chr7:17164984..17168606-chr7:17170506..17172201,3	K562	blood:
8	chr7:17172856..17174534-chr7:17177183..17178818,2	K562	blood:
9	chr7:17132686..17134514-chr7:17337406..17339797,2	MCF-7	breast:
10	chr7:17177869..17180663-chr7:17182407..17185712,4	MCF-7	breast:
11	chr7:17060484..17062454-chr7:17134581..17136153,2	MCF-7	breast:
12	chr7:17170011..17170749-chr7:17197590..17198136,2	MCF-7	breast:
13	chr7:17170011..17170749-chr7:17197590..17198136,2	MCF-7	breast:
14	chr7:17172304..17174827-chr7:17192186..17193688,2	MCF-7	breast:
15	chr7:17170396..17172452-chr7:17178036..17180401,2	MCF-7	breast:
16	chr7:17166582..17168256-chr7:17172777..17175258,2	K562	blood:
17	chr7:17164984..17168606-chr7:17170506..17172201,3	K562	blood:
18	chr14:31026542..31028693-chr7:17140272..17142685,2	MCF-7	breast:
19	chr7:17177869..17180663-chr7:17182407..17185712,4	MCF-7	breast:
20	chr7:17101748..17103793-chr7:17132668..17134988,2	MCF-7	breast:
21	chr7:17197527..17200451-chr7:17338316..17340817,2	MCF-7	breast:
22	chr7:17170396..17172452-chr7:17178036..17180401,2	MCF-7	breast:
23	chr7:17172856..17174534-chr7:17177183..17178818,2	K562	blood:
24	chr7:17172585..17174356-chr7:17177183..17179182,2	K562	blood:
25	chr7:17187339..17189140-chr7:17189260..17191952,2	K562	blood:
26	chr7:17167106..17169974-chr7:17169977..17172043,2	K562	blood:
27	chr7:17168106..17170746-chr7:17337084..17338784,2	MCF-7	breast:
28	chr7:17187103..17188839-chr7:17190242..17191952,2	K562	blood:
29	chr7:17136133..17137910-chr7:17145966..17147609,2	MCF-7	breast:
30	chr7:17172585..17174356-chr7:17177183..17179182,2	K562	blood:
31	chr7:17197585..17198516-chr7:17340641..17341294,2	MCF-7	breast:
32	chr7:17172304..17174827-chr7:17192186..17193688,2	MCF-7	breast:
33	chr7:17048460..17049301-chr7:17197592..17198341,2	MCF-7	breast:
34	chr7:17187339..17189140-chr7:17189260..17191952,2	K562	blood:
35	chr7:17167106..17169974-chr7:17169977..17172043,2	K562	blood:
36	chr7:17100496..17103422-chr7:17133231..17136201,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237773	chromatin interactions
ENSG00000106546	chromatin interactions
ENSG00000092140	chromatin interactions

Extended variants
information (count: 2405 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2405 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7801891	chr7:17133514-17133515	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368859511	chr7:17133549-17133550	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538087317	chr7:17133591-17133592	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs531577361	chr7:17133598-17133599	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550250267	chr7:17133612-17133613	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374364795	chr7:17133637-17133638	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs145303663	chr7:17133663-17133664	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs558031142	chr7:17133728-17133729	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs566649078	chr7:17133735-17133736	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150984065	chr7:17133736-17133737	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555337605	chr7:17133779-17133780	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs530347669	chr7:17133792-17133793	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543816292	chr7:17133823-17133824	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs556232854	chr7:17133831-17133832	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183737632	chr7:17133835-17133836	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs7802546	chr7:17133853-17133854	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs188074818	chr7:17133911-17133912	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs191874304	chr7:17134008-17134009	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs543324049	chr7:17134059-17134060	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs536421894	chr7:17134080-17134081	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs531739212	chr7:17134090-17134091	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs140814197	chr7:17134104-17134105	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150170896	chr7:17134107-17134108	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs184728557	chr7:17134160-17134161	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547895387	chr7:17134169-17134170	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs554760556	chr7:17134174-17134175	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs533945111	chr7:17134176-17134177	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs555638543	chr7:17134211-17134212	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs78688780	chr7:17134237-17134238	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs77364646	chr7:17134242-17134243	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs555933245	chr7:17134269-17134270	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200996840	chr7:17134271-17134272	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs577198137	chr7:17134284-17134285	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs560458569	chr7:17134295-17134296	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs532330109	chr7:17134334-17134335	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs114274454	chr7:17134352-17134353	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs376138574	chr7:17134354-17134355	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs113554142	chr7:17134368-17134369	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs111749172	chr7:17134375-17134376	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs190286645	chr7:17134387-17134388	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs181482219	chr7:17134396-17134397	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs565805213	chr7:17134403-17134404	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs368388544	chr7:17134425-17134426	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs542812128	chr7:17134452-17134453	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs545774859	chr7:17134453-17134454	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs79287172	chr7:17134560-17134561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371372518	chr7:17134601-17134602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531955755	chr7:17134608-17134609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544072195	chr7:17134620-17134621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565313977	chr7:17134623-17134624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Melanoma	17363583	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:791 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17128200-17134600	Weak transcription	Pancreas	Pancrea
2	chr7:17129800-17133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:17130400-17136600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:17130800-17134600	Weak transcription	A549	lung
5	chr7:17131000-17133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:17131000-17134200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:17131000-17134600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:17131000-17135000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:17131200-17133600	Weak transcription	Hela-S3	cervix
10	chr7:17131200-17133800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:17131200-17134000	Weak transcription	Osteobl	bone
12	chr7:17131200-17134200	Weak transcription	NHDF-Ad	bronchial
13	chr7:17131200-17134400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:17131200-17134400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:17131200-17134800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:17132200-17137400	Enhancers	NHEK	skin
17	chr7:17133000-17133600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:17133400-17135400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr7:17133400-17140000	Enhancers	HMEC	breast
20	chr7:17133600-17138800	Enhancers	Hela-S3	cervix
21	chr7:17133800-17136200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:17133800-17136800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:17133800-17139800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:17134000-17135800	Enhancers	Osteobl	bone
25	chr7:17134200-17134400	Enhancers	NHDF-Ad	bronchial
26	chr7:17134200-17137400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:17134400-17134800	Weak transcription	NHDF-Ad	bronchial
28	chr7:17134400-17135800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:17134400-17136000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:17134600-17135000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:17134600-17135000	Enhancers	Fetal Brain Male	brain
32	chr7:17134600-17135000	Enhancers	Pancreas	Pancrea
33	chr7:17134600-17135200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:17134600-17135200	Enhancers	A549	lung
35	chr7:17134600-17135400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:17134600-17135600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:17134600-17135800	Enhancers	Brain Hippocampus Middle	brain
38	chr7:17134800-17135200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr7:17134800-17135600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:17134800-17135800	Enhancers	NHDF-Ad	bronchial
41	chr7:17135000-17135400	Weak transcription	Fetal Brain Male	brain
42	chr7:17135000-17135800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:17135000-17139400	Weak transcription	Pancreas	Pancrea
44	chr7:17135200-17135600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:17135200-17137400	Weak transcription	A549	lung
46	chr7:17135200-17138000	Enhancers	Dnd41	blood
47	chr7:17135400-17135800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr7:17135400-17136000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:17135400-17136000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:17135400-17136400	Enhancers	Fetal Brain Male	brain

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