Variant report

Variant	nsv527805
Chromosome Location	chr1:241651018-241656685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:241644658..241646283-chr1:241649186..241651248,2	K562	blood:
2	chr1:241653862..241656906-chr1:241669771..241671642,4	K562	blood:
3	chr1:241626870..241629867-chr1:241656513..241658810,2	K562	blood:
4	chr1:241646443..241651437-chr1:241651445..241654937,7	K562	blood:
5	chr1:241646443..241651437-chr1:241651445..241654937,7	K562	blood:
6	chr1:241655406..241657552-chr1:241670142..241672034,2	K562	blood:
7	chr1:241655533..241657251-chr1:241681709..241683858,2	MCF-7	breast:
8	chr1:241643115..241646158-chr1:241648871..241651877,3	K562	blood:
9	chr1:241649973..241652438-chr1:241659468..241661017,2	K562	blood:
10	chr1:241655894..241658438-chr1:241663957..241666444,2	K562	blood:
11	chr1:241654504..241656882-chr1:241679445..241682289,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000091483	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6693420	chr1:241651018-241651019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114545153	chr1:241651055-241651056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144786300	chr1:241651074-241651075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535833600	chr1:241651094-241651095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555629723	chr1:241651101-241651102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557894009	chr1:241651104-241651105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572457647	chr1:241651118-241651119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541278516	chr1:241651223-241651224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564309558	chr1:241651236-241651237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77473740	chr1:241651246-241651247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543739205	chr1:241651251-241651252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563628343	chr1:241651367-241651368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531254768	chr1:241651419-241651420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572645689	chr1:241651420-241651421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372361788	chr1:241651441-241651442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548119748	chr1:241651487-241651488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375802503	chr1:241651488-241651489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527346082	chr1:241651540-241651541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547634750	chr1:241651541-241651542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78847517	chr1:241651554-241651555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148152266	chr1:241651574-241651575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550140575	chr1:241651638-241651639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73135296	chr1:241651816-241651817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573866833	chr1:241651862-241651863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141939608	chr1:241651877-241651878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555695945	chr1:241651894-241651895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35327610	chr1:241651922-241651923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572466885	chr1:241651968-241651969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150701523	chr1:241651969-241651970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534813339	chr1:241651978-241651979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35489101	chr1:241652032-241652033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67794990	chr1:241652065-241652066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139962092	chr1:241652071-241652072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543603959	chr1:241652088-241652089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115760792	chr1:241652097-241652098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574233116	chr1:241652166-241652167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541476842	chr1:241652182-241652183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377198579	chr1:241652200-241652201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181424452	chr1:241652457-241652458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547549390	chr1:241652492-241652493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571334957	chr1:241652514-241652515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564162377	chr1:241652531-241652532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577966877	chr1:241652548-241652549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549957406	chr1:241652570-241652571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34734928	chr1:241652595-241652596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563386765	chr1:241652639-241652640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75912068	chr1:241652640-241652641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74320143	chr1:241652653-241652654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144224818	chr1:241652660-241652661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529154392	chr1:241652665-241652666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	17989066	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241639000-241657000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:241643800-241657800	Weak transcription	Psoas Muscle	Psoas
3	chr1:241644600-241657200	Weak transcription	Right Ventricle	heart
4	chr1:241646400-241657200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:241647000-241656400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:241647000-241656800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:241647000-241657000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:241647000-241657000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:241647000-241657200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:241647000-241657400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:241647000-241657600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:241647000-241657600	Weak transcription	HMEC	breast
13	chr1:241647000-241657600	Weak transcription	NH-A	brain
14	chr1:241647000-241657600	Weak transcription	NHEK	skin
15	chr1:241647000-241660000	Weak transcription	A549	lung
16	chr1:241647000-241660000	Weak transcription	Hela-S3	cervix
17	chr1:241647000-241666600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:241647400-241657200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:241647600-241657000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:241647600-241657600	Weak transcription	HSMM	muscle
21	chr1:241648400-241660200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:241649000-241657400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:241649000-241657400	Weak transcription	Osteobl	bone
24	chr1:241649200-241658600	Weak transcription	NHDF-Ad	bronchial
25	chr1:241649400-241657400	Weak transcription	HUVEC	blood vessel
26	chr1:241649600-241654400	Weak transcription	GM12878-XiMat	blood
27	chr1:241649600-241657400	Weak transcription	NHLF	lung
28	chr1:241649800-241656800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:241650400-241657400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:241650400-241657400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:241650600-241657400	Weak transcription	K562	blood
32	chr1:241651400-241651600	Enhancers	Duodenum Mucosa	Duodenum
33	chr1:241651400-241657000	Weak transcription	Fetal Thymus	thymus
34	chr1:241651600-241657200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:241651800-241655800	Weak transcription	Liver	Liver
36	chr1:241652000-241665200	Weak transcription	Brain Germinal Matrix	brain
37	chr1:241652400-241659200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:241653800-241657400	Weak transcription	Primary B cells from cord blood	blood
39	chr1:241654000-241656800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:241654000-241657600	Weak transcription	Gastric	stomach
41	chr1:241654200-241654600	Enhancers	HSMMtube	muscle
42	chr1:241654200-241657200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:241654200-241657200	Weak transcription	Fetal Lung	lung
44	chr1:241654200-241657200	Weak transcription	Thymus	Thymus
45	chr1:241654200-241657600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:241654200-241659200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:241654400-241655000	Enhancers	GM12878-XiMat	blood
48	chr1:241654400-241656800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:241654400-241657200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:241654400-241659200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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