Variant report

Variant	nsv915904
Chromosome Location	chr3:60952040-61125194
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	chr3:61010096..61013094-chr3:61013770..61016716,3	K562	blood:
2	chr3:61113632..61115637-chr3:61116570..61118887,2	K562	blood:
3	chr3:61098237..61100054-chr3:61102293..61104555,2	MCF-7	breast:
4	chr3:60973639..60975889-chr3:60980470..60983301,2	MCF-7	breast:
5	chr3:61014046..61015931-chr3:61016570..61019029,2	K562	blood:
6	chr3:60973639..60975889-chr3:60980470..60983301,2	MCF-7	breast:
7	chr3:61014046..61015931-chr3:61016570..61019029,2	K562	blood:
8	chr3:61113632..61115637-chr3:61116570..61118887,2	K562	blood:
9	chr3:60955729..60956229-chr8:43092430..43093268,2	MCF-7	breast:
10	chr3:61010096..61013094-chr3:61013770..61016716,3	K562	blood:
11	chr3:61098237..61100054-chr3:61102293..61104555,2	MCF-7	breast:

No data

Extended variants
information (count: 6103 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:6103 , 50 per page) page: 1 2 3 4 5 6 7 ... 123

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556863006	chr3:60952040-60952041	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs575213209	chr3:60952054-60952055	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542401434	chr3:60952066-60952067	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560657943	chr3:60952069-60952070	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200355182	chr3:60952071-60952072	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs572724046	chr3:60952077-60952078	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368324304	chr3:60952083-60952084	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564635919	chr3:60952109-60952110	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs141962806	chr3:60952112-60952113	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546819951	chr3:60952118-60952119	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs567902620	chr3:60952124-60952125	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs185915756	chr3:60952141-60952142	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs527610550	chr3:60952184-60952185	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs6414609	chr3:60952186-60952187	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191968893	chr3:60952187-60952188	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs7426804	chr3:60952409-60952410	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6414610	chr3:60952418-60952419	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs371704314	chr3:60952419-60952420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568139551	chr3:60952440-60952441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546391575	chr3:60952445-60952446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557941256	chr3:60952453-60952454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536880093	chr3:60952484-60952485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576487158	chr3:60952492-60952493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543374818	chr3:60952527-60952528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183217051	chr3:60952623-60952624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529297351	chr3:60952624-60952625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375883245	chr3:60952655-60952656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186013686	chr3:60952673-60952674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573340503	chr3:60952689-60952690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560052221	chr3:60952703-60952704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540581606	chr3:60952808-60952809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575305487	chr3:60952810-60952811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148118960	chr3:60952817-60952818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559194819	chr3:60952834-60952835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368695454	chr3:60952840-60952841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13319645	chr3:60952843-60952844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570410926	chr3:60952848-60952849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76483143	chr3:60952862-60952863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190436974	chr3:60952921-60952922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369919656	chr3:60952994-60952995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535475009	chr3:60953000-60953001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554469392	chr3:60953036-60953037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182630213	chr3:60953052-60953053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188064589	chr3:60953169-60953170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577216191	chr3:60953177-60953178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558342292	chr3:60953214-60953215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557822029	chr3:60953237-60953238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576601259	chr3:60953321-60953322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562460190	chr3:60958816-60958817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9826292	chr3:60958878-60958879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60951800-60952200	Active TSS	Liver	Liver
2	chr3:60952400-60953400	Enhancers	HepG2	liver
3	chr3:60958800-60964600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:60959400-60965200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:60962400-60964800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:60962600-60963200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:60962600-60963200	Enhancers	Fetal Heart	heart
8	chr3:60963000-60965200	Weak transcription	Ovary	ovary
9	chr3:60963200-60965000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:60964000-60964200	Enhancers	Psoas Muscle	Psoas
11	chr3:60964200-60967000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr3:60964200-60979400	Weak transcription	Psoas Muscle	Psoas
13	chr3:60964400-60967000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:60964600-60966800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:60964600-60966800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:60964800-60966400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:60964800-60966800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:60964800-60967000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:60964800-60967000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr3:60965000-60965200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr3:60965000-60966400	Enhancers	NHDF-Ad	bronchial
22	chr3:60965000-60966800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr3:60965000-60967000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:60965200-60965600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:60965200-60965600	Enhancers	Placenta	Placenta
26	chr3:60965200-60965600	Enhancers	Ovary	ovary
27	chr3:60965200-60965600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr3:60965200-60966200	Enhancers	Osteobl	bone
29	chr3:60965200-60966400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:60965200-60966800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:60965200-60967000	Enhancers	Primary hematopoietic stem cells	blood
32	chr3:60965400-60966800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr3:60965400-60966800	Enhancers	Brain Anterior Caudate	brain
34	chr3:60965600-60966400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:60965600-60966400	Enhancers	Fetal Kidney	kidney
36	chr3:60965600-60966600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:60965600-60966600	Weak transcription	Ovary	ovary
38	chr3:60965600-60967000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr3:60966600-60966800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:60966600-60966800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:60966600-60966800	Enhancers	Ovary	ovary
42	chr3:60966600-60966800	Enhancers	Pancreas	Pancrea
43	chr3:60966800-60969000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:60966800-60969000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:60967000-60969200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:60967000-60969600	Weak transcription	Pancreas	Pancrea
47	chr3:60969000-60969400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:60969000-60969400	ZNF genes & repeats	Aorta	Aorta
49	chr3:60969000-60969400	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr3:60969000-60970600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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