Variant report

Variant	nsv872979
Chromosome Location	chr1:196658279-196670757
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..196659074,3	K562	blood:
2	chr1:196650074..196651729-chr1:196657061..196658986,2	K562	blood:

Extended variants
information (count: 650 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:650 , 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	rs7529589	chr1:196658279-196658280	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574740126	chr1:196658307-196658308	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535798565	chr1:196658308-196658309	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557181611	chr1:196658355-196658356	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56199504	chr1:196658378-196658379	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371051436	chr1:196658379-196658380	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561610900	chr1:196658382-196658383	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528929275	chr1:196658392-196658393	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563994730	chr1:196658395-196658396	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572909275	chr1:196658396-196658397	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376064265	chr1:196658407-196658408	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539805897	chr1:196658421-196658422	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs482934	chr1:196658497-196658498	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs572308974	chr1:196658532-196658533	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28397680	chr1:196658536-196658537	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200203654	chr1:196658574-196658575	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550898254	chr1:196658595-196658596	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371192606	chr1:196658607-196658608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576059537	chr1:196658658-196658659	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375951544	chr1:196658665-196658666	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147549495	chr1:196658677-196658678	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145650378	chr1:196658696-196658697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs202000959	chr1:196658704-196658705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533322868	chr1:196658724-196658725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111782898	chr1:196658734-196658735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551969428	chr1:196658755-196658756	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368636642	chr1:196658756-196658757	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35695425	chr1:196658763-196658764	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371278506	chr1:196658794-196658795	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542839114	chr1:196658819-196658820	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191579994	chr1:196658899-196658900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183490571	chr1:196658904-196658905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12029785	chr1:196658905-196658906	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs187159761	chr1:196658923-196658924	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs55954834	chr1:196658924-196658925	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564745996	chr1:196658928-196658929	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549355918	chr1:196658930-196658931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191663311	chr1:196658971-196658972	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539222741	chr1:196658996-196658997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568951225	chr1:196659007-196659008	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557940634	chr1:196659030-196659031	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143547004	chr1:196659044-196659045	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540369234	chr1:196659072-196659073	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34815383	chr1:196659178-196659179	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs368658558	chr1:196659179-196659180	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573331706	chr1:196659213-196659214	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201671665	chr1:196659231-196659232	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1061170	chr1:196659237-196659238	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
49	rs199705026	chr1:196659248-196659249	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs121913061	chr1:196659255-196659256	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:89 , 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	chr1:196655200-196658600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:196655200-196659200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:196655200-196672200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:196655400-196658600	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:196655600-196658600	Weak transcription	Ovary	ovary
27	chr1:196655600-196659200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:196656400-196664200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:196656800-196659200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:196657600-196659400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:196658200-196659000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:196658200-196659600	Strong transcription	HSMM	muscle
33	chr1:196658600-196660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:196658600-196660200	Strong transcription	Fetal Muscle Leg	muscle
35	chr1:196658600-196660200	Strong transcription	Ovary	ovary
36	chr1:196659000-196660200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:196659200-196660000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:196659200-196660000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:196659200-196660200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:196659200-196660400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:196659600-196670400	Weak transcription	HSMM	muscle
42	chr1:196659800-196660200	Enhancers	Placenta	Placenta
43	chr1:196660000-196662600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:196660000-196692600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:196660200-196662400	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:196660200-196662600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:196660200-196662600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:196660200-196662600	Weak transcription	Ovary	ovary
49	chr1:196660200-196669400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:196660400-196667400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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