Variant report

Variant	nsv872980
Chromosome Location	chr1:196658763-196670757
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	chr1:196650074..196651729-chr1:196657061..196658986,2	K562	blood:
2	chr1:196650074..196651729-chr1:196657061..196659074,3	K562	blood:

Extended variants
information (count: 623 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35695425	chr1:196658763-196658764	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371278506	chr1:196658794-196658795	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542839114	chr1:196658819-196658820	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191579994	chr1:196658899-196658900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183490571	chr1:196658904-196658905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12029785	chr1:196658905-196658906	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs187159761	chr1:196658923-196658924	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs55954834	chr1:196658924-196658925	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564745996	chr1:196658928-196658929	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549355918	chr1:196658930-196658931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191663311	chr1:196658971-196658972	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539222741	chr1:196658996-196658997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568951225	chr1:196659007-196659008	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557940634	chr1:196659030-196659031	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143547004	chr1:196659044-196659045	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540369234	chr1:196659072-196659073	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34815383	chr1:196659178-196659179	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs368658558	chr1:196659179-196659180	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573331706	chr1:196659213-196659214	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201671665	chr1:196659231-196659232	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1061170	chr1:196659237-196659238	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
22	rs199705026	chr1:196659248-196659249	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs121913061	chr1:196659255-196659256	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369496377	chr1:196659285-196659286	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533690818	chr1:196659291-196659292	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377222601	chr1:196659293-196659294	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374159003	chr1:196659294-196659295	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545227407	chr1:196659308-196659309	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs121913056	chr1:196659324-196659325	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376742584	chr1:196659333-196659334	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560787602	chr1:196659342-196659343	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200644601	chr1:196659343-196659344	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369205150	chr1:196659362-196659363	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367932253	chr1:196659364-196659365	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549488855	chr1:196659461-196659462	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561193404	chr1:196659463-196659464	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372478116	chr1:196659475-196659476	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567641641	chr1:196659520-196659521	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148046800	chr1:196659532-196659533	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141775902	chr1:196659550-196659551	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569131499	chr1:196659595-196659596	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531620621	chr1:196659606-196659607	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559261268	chr1:196659618-196659619	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557663926	chr1:196659638-196659639	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571426943	chr1:196659645-196659646	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533631562	chr1:196659687-196659688	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34331968	chr1:196659753-196659754	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs573417298	chr1:196659785-196659786	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182284807	chr1:196659824-196659825	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555746146	chr1:196659841-196659842	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Ovarian neoplasms	16753589	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196628800-196679400	Weak transcription	Psoas Muscle	Psoas
2	chr1:196629200-196672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:196639600-196662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:196639800-196670400	Weak transcription	Adipose Nuclei	Adipose
5	chr1:196640000-196676800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:196641400-196665800	Strong transcription	Liver	Liver
7	chr1:196642000-196675200	Weak transcription	Fetal Stomach	stomach
8	chr1:196646000-196678400	Weak transcription	K562	blood
9	chr1:196648000-196659200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:196648200-196661200	Weak transcription	NHLF	lung
11	chr1:196648200-196662200	Weak transcription	HSMMtube	muscle
12	chr1:196648200-196666600	Weak transcription	NH-A	brain
13	chr1:196648200-196670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:196648400-196706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:196649600-196707200	Weak transcription	Osteobl	bone
16	chr1:196651400-196662600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:196653600-196660600	Strong transcription	Dnd41	blood
18	chr1:196653600-196673600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:196653800-196669600	Weak transcription	Lung	lung
20	chr1:196655000-196659800	Weak transcription	Left Ventricle	heart
21	chr1:196655000-196671600	Weak transcription	Esophagus	oesophagus
22	chr1:196655200-196659200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:196655200-196672200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:196655600-196659200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:196656400-196664200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:196656800-196659200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:196657600-196659400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:196658200-196659000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:196658200-196659600	Strong transcription	HSMM	muscle
30	chr1:196658600-196660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:196658600-196660200	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:196658600-196660200	Strong transcription	Ovary	ovary
33	chr1:196659000-196660200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:196659200-196660000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:196659200-196660000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:196659200-196660200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr1:196659200-196660400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:196659600-196670400	Weak transcription	HSMM	muscle
39	chr1:196659800-196660200	Enhancers	Placenta	Placenta
40	chr1:196660000-196662600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:196660000-196692600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:196660200-196662400	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:196660200-196662600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:196660200-196662600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:196660200-196662600	Weak transcription	Ovary	ovary
46	chr1:196660200-196669400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:196660400-196667400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:196660600-196662600	Weak transcription	Dnd41	blood
49	chr1:196662400-196663600	ZNF genes & repeats	Fetal Muscle Leg	muscle
50	chr1:196662600-196663000	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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