Variant report

Variant	nsv548743
Chromosome Location	chr1:196648469-196652065
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: 125 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34239310	chr1:196648469-196648470	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12116702	chr1:196648514-196648515	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541518410	chr1:196648603-196648604	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12127759	chr1:196648613-196648614	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368557608	chr1:196648731-196648732	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148235334	chr1:196648760-196648761	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200306092	chr1:196648770-196648771	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530228595	chr1:196648773-196648774	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183474263	chr1:196648780-196648781	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371642012	chr1:196648782-196648783	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201427724	chr1:196648841-196648842	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140107330	chr1:196648903-196648904	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146074007	chr1:196648907-196648908	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374215843	chr1:196648958-196648959	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549764276	chr1:196648971-196648972	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549704328	chr1:196648975-196648976	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571092741	chr1:196649005-196649006	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56340561	chr1:196649023-196649024	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187700819	chr1:196649029-196649030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553569034	chr1:196649050-196649051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56171267	chr1:196649082-196649083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565401486	chr1:196649106-196649107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533815922	chr1:196649108-196649109	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536353728	chr1:196649179-196649180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543834434	chr1:196649201-196649202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576031169	chr1:196649206-196649207	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192196249	chr1:196649216-196649217	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543746277	chr1:196649250-196649251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370627214	chr1:196649327-196649328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185141304	chr1:196649330-196649331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567575812	chr1:196649343-196649344	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150315906	chr1:196649405-196649406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371286562	chr1:196649415-196649416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76719687	chr1:196649440-196649441	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34028773	chr1:196649441-196649442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs398049949	chr1:196649458-196649459	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561497392	chr1:196649498-196649499	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35780892	chr1:196649521-196649522	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559999579	chr1:196649523-196649524	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530093758	chr1:196649567-196649568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35855516	chr1:196649571-196649572	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs75909138	chr1:196649582-196649583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530968536	chr1:196649639-196649640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549642626	chr1:196649660-196649661	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571177820	chr1:196649664-196649665	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368904231	chr1:196649682-196649683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188462961	chr1:196649699-196649700	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547147223	chr1:196649736-196649737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192642138	chr1:196649742-196649743	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184628863	chr1:196649767-196649768	Weak transcription Strong 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:46 , 50 per page) page: 1

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	chr1:196639200-196650000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:196639200-196657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:196639600-196662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:196639800-196654200	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:196639800-196670400	Weak transcription	Adipose Nuclei	Adipose
8	chr1:196640000-196676800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:196640200-196657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:196641000-196650400	Strong transcription	Dnd41	blood
11	chr1:196641400-196665800	Strong transcription	Liver	Liver
12	chr1:196641800-196654800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:196642000-196652400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:196642000-196675200	Weak transcription	Fetal Stomach	stomach
15	chr1:196646000-196678400	Weak transcription	K562	blood
16	chr1:196646200-196654800	Weak transcription	Esophagus	oesophagus
17	chr1:196647000-196649600	Enhancers	HMEC	breast
18	chr1:196647200-196649000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:196647200-196650000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:196647800-196649200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:196647800-196650000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr1:196648000-196659200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:196648200-196649200	Weak transcription	Osteobl	bone
24	chr1:196648200-196651800	Strong transcription	HSMM	muscle
25	chr1:196648200-196652400	Weak transcription	NHDF-Ad	bronchial
26	chr1:196648200-196654200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:196648200-196654200	Weak transcription	Ovary	ovary
28	chr1:196648200-196661200	Weak transcription	NHLF	lung
29	chr1:196648200-196662200	Weak transcription	HSMMtube	muscle
30	chr1:196648200-196666600	Weak transcription	NH-A	brain
31	chr1:196648200-196670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:196648400-196648800	Weak transcription	HUVEC	blood vessel
33	chr1:196648400-196648800	Weak transcription	NHEK	skin
34	chr1:196648400-196649800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:196648400-196706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:196648800-196649200	Enhancers	NHEK	skin
37	chr1:196648800-196649800	Enhancers	HUVEC	blood vessel
38	chr1:196649200-196649600	Enhancers	Osteobl	bone
39	chr1:196649600-196707200	Weak transcription	Osteobl	bone
40	chr1:196649800-196650000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:196650000-196651400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr1:196650000-196654000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:196650000-196654800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:196650400-196653600	Weak transcription	Dnd41	blood
45	chr1:196651400-196662600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:196651800-196653800	Weak transcription	HSMM	muscle

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