Variant report

Variant	nsv534995
Chromosome Location	chr1:72319163-72477496
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:72381957..72383996-chr1:72389950..72392631,2	K562	blood:
2	chr1:72463115..72465700-chr1:72466215..72468715,2	K562	blood:
3	chr1:72399874..72402263-chr1:72409207..72411359,2	K562	blood:
4	chr1:72381957..72383996-chr1:72389950..72392631,2	K562	blood:
5	chr1:72472788..72474801-chr1:72492789..72495541,2	K562	blood:
6	chr1:72463115..72465700-chr1:72466215..72468715,2	K562	blood:
7	chr1:72399874..72402263-chr1:72409207..72411359,2	K562	blood:
8	chr1:72467998..72470410-chr1:72472067..72474561,2	K562	blood:
9	chr1:72467998..72470410-chr1:72472067..72474561,2	K562	blood:

No data

Extended variants
information (count: 4716 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:4716 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577087917	chr1:72319168-72319169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533784584	chr1:72319198-72319199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553873083	chr1:72319225-72319226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573781885	chr1:72319230-72319231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536014518	chr1:72319286-72319287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77234637	chr1:72319296-72319297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559103056	chr1:72319301-72319302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182316934	chr1:72319310-72319311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576869799	chr1:72319320-72319321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148093922	chr1:72319326-72319327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111931242	chr1:72319349-72319350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577589067	chr1:72319386-72319387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540238643	chr1:72319399-72319400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369481630	chr1:72319475-72319476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141986386	chr1:72319502-72319503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17091841	chr1:72319517-72319518	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549159667	chr1:72319542-72319543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562569791	chr1:72319543-72319544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531617470	chr1:72319548-72319549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551351703	chr1:72319578-72319579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571539541	chr1:72319583-72319584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57139977	chr1:72319590-72319591	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547424880	chr1:72319624-72319625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567358989	chr1:72319642-72319643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536396300	chr1:72319650-72319651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555904907	chr1:72319657-72319658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs492261	chr1:72319700-72319701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538458011	chr1:72319718-72319719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558124241	chr1:72319743-72319744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577928625	chr1:72319775-72319776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374681534	chr1:72319788-72319789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563047264	chr1:72319835-72319836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530383423	chr1:72319845-72319846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540225198	chr1:72319848-72319849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372499880	chr1:72319879-72319880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552164312	chr1:72319889-72319890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560162207	chr1:72319914-72319915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377228827	chr1:72319929-72319930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542789588	chr1:72319979-72319980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562179792	chr1:72319985-72319986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563015509	chr1:72319988-72319989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570382556	chr1:72320011-72320012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577867	chr1:72320076-72320077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547816897	chr1:72320101-72320102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551556257	chr1:72320152-72320153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565134847	chr1:72320201-72320202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373305557	chr1:72320203-72320204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527623370	chr1:72320258-72320259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186619842	chr1:72320262-72320263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138922240	chr1:72320266-72320267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72317000-72323000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:72317800-72319200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:72317800-72322200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:72318000-72319200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:72318400-72322200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:72318400-72332400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:72319200-72319600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:72319200-72323000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:72319400-72319600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:72319600-72322800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:72319600-72323000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:72322000-72322600	Enhancers	NHEK	skin
13	chr1:72322200-72322400	Enhancers	NHDF-Ad	bronchial
14	chr1:72322200-72323400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:72322200-72324400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:72322400-72323600	Weak transcription	NHDF-Ad	bronchial
17	chr1:72322400-72324000	Enhancers	Dnd41	blood
18	chr1:72322600-72323200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:72322600-72324000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:72322600-72326400	Weak transcription	NHEK	skin
21	chr1:72322800-72323400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:72322800-72324200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:72322800-72324400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:72323000-72323800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:72323000-72324000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:72323000-72324000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:72323200-72323600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:72323400-72323800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:72323400-72323800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:72323400-72323800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:72323400-72324000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:72323400-72324000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:72323400-72324200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:72323400-72324200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:72323400-72324200	Enhancers	Adipose Nuclei	Adipose
36	chr1:72323400-72324200	Enhancers	Osteobl	bone
37	chr1:72323600-72324000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:72323600-72324000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:72323600-72324000	Enhancers	NHDF-Ad	bronchial
40	chr1:72323600-72324200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:72323600-72324600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:72323800-72324200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr1:72323800-72324400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:72323800-72326600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:72324000-72324200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:72324000-72326600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:72324000-72326600	Weak transcription	NHDF-Ad	bronchial
48	chr1:72324200-72326600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:72324200-72326600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:72324200-72326600	Weak transcription	Osteobl	bone

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