Variant report

Variant	nsv548594
Chromosome Location	chr1:191633346-191667913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
2	chr1:191666098..191668261-chr1:191671112..191673140,2	MCF-7	breast:
3	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
4	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:
5	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
6	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:
7	chr1:191667560..191670063-chr1:191670444..191673438,2	MCF-7	breast:

Extended variants
information (count: 971 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:971 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12036028	chr1:191633346-191633347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553039941	chr1:191633350-191633351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113155495	chr1:191633368-191633369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538457474	chr1:191633380-191633381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569336734	chr1:191633381-191633382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547627811	chr1:191633385-191633386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182038458	chr1:191633388-191633389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116717377	chr1:191633408-191633409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2785774	chr1:191633479-191633480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142193372	chr1:191633523-191633524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146329850	chr1:191633538-191633539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560095535	chr1:191633549-191633550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370962094	chr1:191633623-191633624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528660590	chr1:191633635-191633636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138327304	chr1:191633689-191633690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141814556	chr1:191633693-191633694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186577472	chr1:191633724-191633725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112317725	chr1:191633725-191633726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550443156	chr1:191633745-191633746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558279608	chr1:191633772-191633773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567251628	chr1:191633797-191633798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562288452	chr1:191633810-191633811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562632740	chr1:191633842-191633843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190643220	chr1:191633876-191633877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536415271	chr1:191633906-191633907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566447348	chr1:191633932-191633933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538420607	chr1:191633952-191633953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558310091	chr1:191633961-191633962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575133054	chr1:191633992-191633993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12131898	chr1:191633993-191633994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569399037	chr1:191634034-191634035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533722911	chr1:191634072-191634073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181860606	chr1:191634078-191634079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150620085	chr1:191634086-191634087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560058827	chr1:191634190-191634191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573554665	chr1:191634262-191634263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545750416	chr1:191634306-191634307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565469806	chr1:191634323-191634324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531059181	chr1:191634354-191634355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550605328	chr1:191634360-191634361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374407481	chr1:191634371-191634372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139180189	chr1:191634376-191634377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558128171	chr1:191634388-191634389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75777916	chr1:191634404-191634405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546211648	chr1:191634413-191634414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576384888	chr1:191634442-191634443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566161382	chr1:191634447-191634448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532261480	chr1:191634458-191634459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113361746	chr1:191634509-191634510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552096195	chr1:191634542-191634543	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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191633200-191634400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:191634400-191635800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:191635800-191637400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:191637800-191638000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:191638200-191639400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:191638200-191641000	Enhancers	NH-A	brain
7	chr1:191639200-191639400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:191639400-191640600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:191639600-191640600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:191640600-191641000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:191640600-191641000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:191640600-191641000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:191641000-191641200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:191641200-191643600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:191643400-191645200	Enhancers	Colon Smooth Muscle	Colon
16	chr1:191643400-191645600	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:191643600-191643800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:191643600-191644200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:191643600-191644200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:191643600-191644200	Enhancers	Fetal Muscle Leg	muscle
21	chr1:191643600-191644400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:191643600-191644400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:191643600-191644400	Enhancers	Fetal Stomach	stomach
24	chr1:191643600-191645400	Enhancers	Adipose Nuclei	Adipose
25	chr1:191643800-191644200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:191643800-191644200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr1:191643800-191644200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:191643800-191644400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:191643800-191644400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:191643800-191644400	Enhancers	Fetal Heart	heart
31	chr1:191643800-191644600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr1:191643800-191645200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:191644000-191644400	Enhancers	Ovary	ovary
34	chr1:191644600-191645200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:191645200-191645400	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr1:191645200-191646000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:191646000-191646200	Enhancers	Ovary	ovary
38	chr1:191648800-191650000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:191649000-191649800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:191649200-191649600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:191650400-191651600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:191651600-191652000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:191652000-191654000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:191654000-191655000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:191655000-191657200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:191657200-191658200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:191658200-191658400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:191661400-191662200	Enhancers	HSMMtube	muscle
49	chr1:191661600-191662200	Enhancers	Fetal Muscle Trunk	muscle
50	chr1:191661600-191662200	Enhancers	Psoas Muscle	Psoas

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