Variant report

Variant	nsv997435
Chromosome Location	chr1:195567159-195687680
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195561815..195564630-chr1:195565881..195568788,2	K562	blood:
2	chr1:195574464..195576516-chr1:195657444..195660012,2	K562	blood:
3	chr1:195679087..195683591-chr1:195685074..195688341,4	K562	blood:
4	chr1:195679087..195683591-chr1:195685074..195688341,4	K562	blood:
5	chr1:195576625..195578238-chr1:195581661..195583174,2	K562	blood:
6	chr1:195605744..195607558-chr1:195610835..195613690,2	K562	blood:
7	chr1:195622545..195624939-chr1:195627607..195630301,2	K562	blood:
8	chr1:195679626..195682310-chr1:195683453..195684980,2	K562	blood:
9	chr1:195605744..195607558-chr1:195610835..195613690,2	K562	blood:
10	chr1:195385198..195387219-chr1:195683079..195685011,2	K562	blood:
11	chr1:195676413..195678428-chr1:195679999..195681988,2	K562	blood:
12	chr1:195576625..195578238-chr1:195581661..195583174,2	K562	blood:
13	chr1:195636006..195638492-chr1:195640156..195642682,2	K562	blood:
14	chr1:194827832..194830563-chr1:195590853..195593142,2	K562	blood:
15	chr1:195676413..195678428-chr1:195679999..195681988,2	K562	blood:
16	chr1:195622545..195624939-chr1:195627607..195630301,2	K562	blood:
17	chr1:195648419..195651037-chr1:195656672..195659397,2	K562	blood:
18	chr1:195643603..195646404-chr1:195648016..195650352,3	K562	blood:
19	chr1:195629416..195631503-chr1:195632294..195634517,2	K562	blood:
20	chr1:195629416..195631503-chr1:195632294..195634517,2	K562	blood:
21	chr1:195679626..195682310-chr1:195683453..195684980,2	K562	blood:
22	chr1:195643603..195646404-chr1:195648016..195650352,3	K562	blood:
23	chr1:195681664..195684653-chr1:195687722..195689895,2	MCF-7	breast:
24	chr1:195635730..195637506-chr1:195640643..195642682,2	K562	blood:
25	chr1:195636006..195638492-chr1:195640156..195642682,2	K562	blood:
26	chr1:195648419..195651037-chr1:195656672..195659397,2	K562	blood:
27	chr1:195574464..195576516-chr1:195657444..195660012,2	K562	blood:
28	chr1:195635730..195637506-chr1:195640643..195642682,2	K562	blood:

No data

Extended variants
information (count: 1100 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570385370	chr1:195573226-195573227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548346904	chr1:195573227-195573228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570043695	chr1:195573251-195573252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537019434	chr1:195573266-195573267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559227441	chr1:195573296-195573297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113087208	chr1:195573322-195573323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534920403	chr1:195573363-195573364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35184038	chr1:195573386-195573387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs398039051	chr1:195573392-195573393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376450745	chr1:195573431-195573432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192820778	chr1:195573454-195573455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73068351	chr1:195573458-195573459	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs183619497	chr1:195573469-195573470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554326665	chr1:195573536-195573537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576002740	chr1:195573543-195573544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375066379	chr1:195573556-195573557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144505379	chr1:195573579-195573580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533433754	chr1:195573580-195573581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146615777	chr1:195573638-195573639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140123009	chr1:195573652-195573653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541274356	chr1:195573692-195573693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71631826	chr1:195573776-195573777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561058811	chr1:195573795-195573796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551929515	chr1:195573801-195573802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559592266	chr1:195573802-195573803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529877739	chr1:195573807-195573808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78689570	chr1:195573829-195573830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375672273	chr1:195573841-195573842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570025244	chr1:195573858-195573859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566828372	chr1:195573870-195573871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187338163	chr1:195573875-195573876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552271368	chr1:195573889-195573890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532146729	chr1:195573898-195573899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534980241	chr1:195573919-195573920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574614284	chr1:195573956-195573957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151274320	chr1:195573997-195573998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140476426	chr1:195573999-195574000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191690740	chr1:195574014-195574015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554670959	chr1:195574051-195574052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576032914	chr1:195574069-195574070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs56963471	chr1:195574124-195574125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183911371	chr1:195574141-195574142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369765402	chr1:195574168-195574169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576862523	chr1:195574169-195574170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541342716	chr1:195574188-195574189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188143344	chr1:195574215-195574216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377151361	chr1:195574220-195574221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534195116	chr1:195574239-195574240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74135147	chr1:195574278-195574279	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs73068353	chr1:195574282-195574283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

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

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195573200-195573600	Enhancers	A549	lung
2	chr1:195573200-195573800	Enhancers	NHEK	skin
3	chr1:195573200-195574200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:195573800-195574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:195574400-195575000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:195574600-195575000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:195574600-195575000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:195574600-195575000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:195575200-195575400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:195586000-195586800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:195597000-195597400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:195601000-195601400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:195606600-195607000	Active TSS	Fetal Lung	lung
14	chr1:195606600-195607000	Active TSS	NHDF-Ad	bronchial
15	chr1:195606600-195607200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:195606600-195607200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:195606600-195607200	Enhancers	Fetal Brain Female	brain
18	chr1:195606800-195607200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:195608200-195609000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:195608400-195609000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:195621600-195622000	Active TSS	A549	lung
22	chr1:195632400-195634000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:195632400-195634200	Enhancers	HMEC	breast
24	chr1:195632600-195633200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:195632600-195633800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:195632600-195634000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:195632800-195633200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:195632800-195633200	Enhancers	A549	lung
29	chr1:195632800-195633600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:195632800-195633600	Enhancers	Hela-S3	cervix
31	chr1:195632800-195634000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:195632800-195634000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:195632800-195634200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:195633000-195633400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:195633000-195634200	Enhancers	NHEK	skin
36	chr1:195633200-195633400	Flanking Active TSS	A549	lung
37	chr1:195633200-195633600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:195633200-195634200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:195633200-195634200	Enhancers	NHDF-Ad	bronchial
40	chr1:195633400-195634000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:195633600-195634400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:195634000-195635200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:195641200-195641400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:195653600-195659000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:195655000-195657600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:195668200-195668600	Active TSS	NHDF-Ad	bronchial
47	chr1:195671200-195680200	Weak transcription	Esophagus	oesophagus
48	chr1:195675200-195675600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr1:195675600-195676000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:195676000-195676200	Enhancers	Placenta Amnion	Placenta Amnion

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