Variant report

Variant	nsv947460
Chromosome Location	chr1:195646625-195689578
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195643603..195646404-chr1:195648016..195650352,3	K562	blood:
2	chr1:195679087..195683591-chr1:195685074..195688341,4	K562	blood:
3	chr1:195679626..195682310-chr1:195683453..195684980,2	K562	blood:
4	chr1:195574464..195576516-chr1:195657444..195660012,2	K562	blood:
5	chr1:195681664..195684653-chr1:195687722..195689895,2	MCF-7	breast:
6	chr1:195679087..195683591-chr1:195685074..195688341,4	K562	blood:
7	chr1:195679626..195682310-chr1:195683453..195684980,2	K562	blood:
8	chr1:195676413..195678428-chr1:195679999..195681988,2	K562	blood:
9	chr1:195689328..195691093-chr1:195801582..195803089,2	K562	blood:
10	chr1:195681664..195684653-chr1:195687722..195689895,2	MCF-7	breast:
11	chr1:195648419..195651037-chr1:195656672..195659397,2	K562	blood:
12	chr1:195676413..195678428-chr1:195679999..195681988,2	K562	blood:
13	chr1:195648419..195651037-chr1:195656672..195659397,2	K562	blood:
14	chr1:195385198..195387219-chr1:195683079..195685011,2	K562	blood:

No data

Extended variants
information (count: 831 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:831 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572827247	chr1:195653605-195653606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575050653	chr1:195653662-195653663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189452164	chr1:195653697-195653698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574186050	chr1:195653732-195653733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75729750	chr1:195653750-195653751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562839315	chr1:195653783-195653784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182088336	chr1:195653831-195653832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564861153	chr1:195653881-195653882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532118298	chr1:195653887-195653888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10921888	chr1:195654025-195654026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs80153226	chr1:195654072-195654073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185106454	chr1:195654092-195654093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568124164	chr1:195654115-195654116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189907266	chr1:195654118-195654119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72734128	chr1:195654132-195654133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569166654	chr1:195654181-195654182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113534376	chr1:195654218-195654219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140654610	chr1:195654227-195654228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559447978	chr1:195654332-195654333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111851224	chr1:195654354-195654355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71874551	chr1:195654356-195654357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71152388	chr1:195654376-195654377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181180043	chr1:195654458-195654459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12023999	chr1:195654459-195654460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12754180	chr1:195654508-195654509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186102745	chr1:195654518-195654519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77934706	chr1:195654526-195654527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35316554	chr1:195654567-195654568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72734129	chr1:195654592-195654593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562775521	chr1:195654599-195654600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189562597	chr1:195654613-195654614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140321319	chr1:195654616-195654617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560254648	chr1:195654645-195654646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527694577	chr1:195654658-195654659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549163635	chr1:195654707-195654708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80066629	chr1:195654722-195654723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112642363	chr1:195654732-195654733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550782656	chr1:195654734-195654735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117011386	chr1:195654786-195654787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34526731	chr1:195654803-195654804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571615055	chr1:195654814-195654815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144966817	chr1:195654824-195654825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375611960	chr1:195654833-195654834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73056325	chr1:195654906-195654907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566296117	chr1:195654910-195654911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538766647	chr1:195654919-195654920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73056327	chr1:195654931-195654932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149053266	chr1:195654944-195654945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567006056	chr1:195654968-195654969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367605916	chr1:195655045-195655046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Melanoma	20688739	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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Burkitt''s lymphoma	20823134	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195653600-195659000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:195655000-195657600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:195668200-195668600	Active TSS	NHDF-Ad	bronchial
4	chr1:195671200-195680200	Weak transcription	Esophagus	oesophagus
5	chr1:195675200-195675600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:195675600-195676000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:195676000-195676200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:195676200-195678200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:195677400-195678200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:195678200-195678600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:195678200-195678600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:195678200-195678800	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:195678200-195679600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:195678400-195679400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:195678400-195679400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:195678800-195683000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:195679200-195679400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:195679400-195683000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:195679400-195683000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:195679600-195682800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:195679800-195680200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:195680200-195680400	ZNF genes & repeats	Esophagus	oesophagus
23	chr1:195680400-195680800	Weak transcription	Esophagus	oesophagus
24	chr1:195682000-195686800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:195682800-195684800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:195683000-195684600	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:195683000-195684800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:195683000-195685000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:195683400-195684000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:195683400-195684000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:195683600-195684000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:195683600-195684200	Enhancers	A549	lung
33	chr1:195683600-195684600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:195683600-195684800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:195683600-195684800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:195683600-195684800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:195683800-195684600	Enhancers	NHDF-Ad	bronchial
38	chr1:195683800-195684800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:195684000-195684600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:195684000-195685000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:195684000-195685000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:195684200-195684600	Weak transcription	A549	lung
43	chr1:195684600-195684800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:195684600-195684800	Enhancers	A549	lung
45	chr1:195684600-195686200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:195684600-195686200	Weak transcription	NHDF-Ad	bronchial
47	chr1:195684800-195686200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:195684800-195686400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:195684800-195687200	Weak transcription	A549	lung
50	chr1:195684800-195688400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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