Variant report

Variant	nsv4354
Chromosome Location	chr1:210070574-210100783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210077721..210079248-chr1:210084762..210086473,2	MCF-7	breast:
2	chr1:210077721..210079248-chr1:210084762..210086473,2	MCF-7	breast:
3	chr1:210000011..210002794-chr1:210097797..210100513,2	K562	blood:
4	chr1:210062213..210064340-chr1:210071248..210073930,2	K562	blood:
5	chr1:210099710..210101405-chr1:210104542..210107645,3	K562	blood:

Variant related genes	Relation type
ENSG00000117597	chromatin interactions

Extended variants
information (count: 510 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185803991	chr1:210070578-210070579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548480348	chr1:210070673-210070674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148705204	chr1:210070674-210070675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534217327	chr1:210070726-210070727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142271749	chr1:210070737-210070738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570805961	chr1:210070749-210070750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538003883	chr1:210070755-210070756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556687535	chr1:210070805-210070806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575520518	chr1:210070820-210070821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150862605	chr1:210070821-210070822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554926333	chr1:210070873-210070874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76974671	chr1:210070877-210070878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78852527	chr1:210070881-210070882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564756125	chr1:210070897-210070898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532130267	chr1:210070898-210070899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576411947	chr1:210070900-210070901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562202988	chr1:210070919-210070920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189091863	chr1:210070928-210070929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548344034	chr1:210070931-210070932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567166244	chr1:210070963-210070964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528007083	chr1:210070964-210070965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552835032	chr1:210070978-210070979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570800635	chr1:210071048-210071049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181860290	chr1:210071085-210071086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556699610	chr1:210071112-210071113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186272150	chr1:210071114-210071115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74840602	chr1:210071130-210071131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56727351	chr1:210071178-210071179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572971858	chr1:210071186-210071187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139298948	chr1:210071207-210071208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144113482	chr1:210071245-210071246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190625758	chr1:210071254-210071255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543757009	chr1:210071255-210071256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562263287	chr1:210071282-210071283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546459751	chr1:210071311-210071312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529704139	chr1:210071320-210071321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146479051	chr1:210071329-210071330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139978672	chr1:210071397-210071398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527879413	chr1:210071406-210071407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552607048	chr1:210071410-210071411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75691588	chr1:210071415-210071416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571079907	chr1:210071444-210071445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368143800	chr1:210071451-210071452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550165229	chr1:210071458-210071459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568876319	chr1:210071476-210071477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568450129	chr1:210071484-210071485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6540567	chr1:210071528-210071529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547120271	chr1:210071540-210071541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567043112	chr1:210071570-210071571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182912183	chr1:210071585-210071586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210066600-210070800	Enhancers	NHEK	skin
2	chr1:210066800-210070800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:210066800-210070800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:210067600-210071000	Enhancers	HMEC	breast
5	chr1:210067800-210071000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:210068200-210070600	Enhancers	Osteobl	bone
7	chr1:210068200-210070800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:210069000-210070600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:210069600-210073400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:210069800-210073800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:210070000-210070600	Enhancers	NH-A	brain
12	chr1:210070000-210070800	Enhancers	Hela-S3	cervix
13	chr1:210070000-210073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:210070000-210073600	Weak transcription	HSMM	muscle
15	chr1:210070200-210070600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:210070200-210073400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:210070200-210073400	Weak transcription	NHDF-Ad	bronchial
18	chr1:210070200-210073600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:210070200-210073600	Weak transcription	HSMMtube	muscle
20	chr1:210070200-210074000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:210070200-210074200	Weak transcription	HUVEC	blood vessel
22	chr1:210070400-210070600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr1:210070400-210073400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:210070400-210073400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:210070600-210070800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:210070600-210071000	Weak transcription	NH-A	brain
27	chr1:210070600-210073400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:210070600-210073400	Weak transcription	Osteobl	bone
29	chr1:210070800-210071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:210070800-210073000	Weak transcription	NHEK	skin
31	chr1:210070800-210073200	Weak transcription	Hela-S3	cervix
32	chr1:210070800-210073400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:210070800-210074000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:210071000-210071200	Enhancers	NH-A	brain
35	chr1:210071000-210073000	Weak transcription	HMEC	breast
36	chr1:210071000-210073400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:210071200-210073200	Weak transcription	NH-A	brain
38	chr1:210072600-210074800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:210073000-210074200	Enhancers	NHEK	skin
40	chr1:210073000-210076000	Enhancers	HMEC	breast
41	chr1:210073200-210074800	Enhancers	Hela-S3	cervix
42	chr1:210073200-210074800	Enhancers	NH-A	brain
43	chr1:210073400-210074400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:210073400-210074600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:210073400-210074800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:210073400-210074800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:210073400-210074800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:210073400-210074800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:210073400-210074800	Enhancers	NHDF-Ad	bronchial
50	chr1:210073400-210074800	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links