Variant report

Variant	nsv946564
Chromosome Location	chr1:197066834-197069838
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	chr1:197068919..197071341-chr1:197120763..197122532,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116360761	chr1:197066837-197066838	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552428949	chr1:197066896-197066897	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571919940	chr1:197066898-197066899	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115744736	chr1:197066920-197066921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367891196	chr1:197066957-197066958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555253117	chr1:197066982-197066983	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576755870	chr1:197066989-197066990	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182440114	chr1:197067011-197067012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565410257	chr1:197067013-197067014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577246305	chr1:197067023-197067024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576250329	chr1:197067032-197067033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201119243	chr1:197067111-197067112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189203113	chr1:197067123-197067124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35686594	chr1:197067132-197067133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147798744	chr1:197067138-197067139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199735937	chr1:197067145-197067146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115407329	chr1:197067149-197067150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543661179	chr1:197067158-197067159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71131741	chr1:197067193-197067194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531442656	chr1:197067209-197067210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549550653	chr1:197067275-197067276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149284705	chr1:197067316-197067317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374376376	chr1:197067317-197067318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571285605	chr1:197067318-197067319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572194158	chr1:197067332-197067333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199978908	chr1:197067333-197067334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538750950	chr1:197067364-197067365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547143741	chr1:197067373-197067374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190955159	chr1:197067402-197067403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536248140	chr1:197067422-197067423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183166987	chr1:197067427-197067428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187536001	chr1:197067447-197067448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57665163	chr1:197067480-197067481	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559128755	chr1:197067524-197067525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191957437	chr1:197067541-197067542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565139345	chr1:197067565-197067566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541523444	chr1:197067583-197067584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559542439	chr1:197067609-197067610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534721817	chr1:197067633-197067634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150354290	chr1:197067636-197067637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546607115	chr1:197067644-197067645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541812269	chr1:197067678-197067679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376243697	chr1:197067706-197067707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117022790	chr1:197067709-197067710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568088080	chr1:197067724-197067725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530408831	chr1:197067726-197067727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567730732	chr1:197067730-197067731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184965589	chr1:197067731-197067732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112018283	chr1:197067770-197067771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112693617	chr1:197067797-197067798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197051400-197069600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:197051800-197069800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:197052200-197074400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:197052200-197076200	Weak transcription	NHLF	lung
5	chr1:197052200-197083600	Weak transcription	Fetal Stomach	stomach
6	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:197052400-197068800	Weak transcription	Primary T cells from cord blood	blood
9	chr1:197052400-197069200	Strong transcription	Fetal Thymus	thymus
10	chr1:197052600-197068600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:197052800-197067000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:197053000-197067000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:197054000-197071200	Weak transcription	Brain Germinal Matrix	brain
14	chr1:197054200-197071200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
16	chr1:197054600-197072400	Weak transcription	Thymus	Thymus
17	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
18	chr1:197055200-197068200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:197055400-197069400	Strong transcription	Dnd41	blood
20	chr1:197055600-197068600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:197055600-197074000	Weak transcription	Placenta	Placenta
22	chr1:197057000-197069200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:197057200-197071800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:197057200-197073200	Weak transcription	NHEK	skin
25	chr1:197057800-197069800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:197058800-197070800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:197059600-197069200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:197060000-197073800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:197060400-197071200	Weak transcription	Fetal Lung	lung
30	chr1:197060400-197072400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:197061000-197067400	Weak transcription	HSMM	muscle
32	chr1:197061000-197068800	Weak transcription	Osteobl	bone
33	chr1:197061200-197073200	Weak transcription	HepG2	liver
34	chr1:197061800-197072000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:197062000-197069800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:197063000-197068000	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:197063000-197069600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:197063000-197071600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:197063000-197071600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:197063000-197072400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:197063000-197072400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:197063000-197072400	Weak transcription	GM12878-XiMat	blood
43	chr1:197063000-197072600	Weak transcription	A549	lung
44	chr1:197063000-197072600	Weak transcription	HUVEC	blood vessel
45	chr1:197063000-197072800	Weak transcription	NH-A	brain
46	chr1:197063000-197073200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:197063200-197072400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:197063600-197069800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:197063600-197072400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:197064000-197073000	Weak transcription	HMEC	breast

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