Variant report

Variant	nsv876849
Chromosome Location	chr3:60372144-60432292
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	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
2	chr3:60382449..60384034-chr3:60387364..60390049,2	K562	blood:
3	chr3:60260056..60262708-chr3:60388625..60391399,2	K562	blood:
4	chr3:60418409..60420748-chr3:60421749..60423425,2	MCF-7	breast:
5	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
6	chr3:60382449..60384034-chr3:60387364..60390049,2	K562	blood:
7	chr3:60335312..60337513-chr3:60384353..60386284,2	K562	blood:
8	chr3:60418409..60420748-chr3:60421749..60423425,2	MCF-7	breast:
9	chr3:60187999..60188742-chr3:60417102..60417817,2	MCF-7	breast:

No data

Extended variants
information (count: 2313 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:2313 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2687170	chr3:60372144-60372145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144793176	chr3:60372145-60372146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111630022	chr3:60372182-60372183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147933776	chr3:60372191-60372192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181385102	chr3:60372205-60372206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116405839	chr3:60372214-60372215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557807491	chr3:60372241-60372242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529096992	chr3:60372247-60372248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547216443	chr3:60372251-60372252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75359350	chr3:60372272-60372273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150061695	chr3:60372297-60372298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550961622	chr3:60372336-60372337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569556450	chr3:60372371-60372372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2734380	chr3:60372387-60372388	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs35035916	chr3:60374409-60374410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530342233	chr3:60374428-60374429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369936492	chr3:60374497-60374498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548529568	chr3:60374512-60374513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577696599	chr3:60374546-60374547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560400299	chr3:60374597-60374598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6801889	chr3:60374602-60374603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537667910	chr3:60374615-60374616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552104384	chr3:60374616-60374617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570518884	chr3:60374626-60374627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184081724	chr3:60374658-60374659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142942386	chr3:60374700-60374701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568489310	chr3:60374715-60374716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73094220	chr3:60374716-60374717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs75180415	chr3:60374775-60374776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573171088	chr3:60374781-60374782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150687789	chr3:60374909-60374910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558548114	chr3:60374923-60374924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140011481	chr3:60374962-60374963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182449816	chr3:60379828-60379829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142221189	chr3:60379841-60379842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552664766	chr3:60379846-60379847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372177788	chr3:60379853-60379854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189108583	chr3:60379857-60379858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17062963	chr3:60379864-60379865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556206781	chr3:60379869-60379870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556920892	chr3:60379880-60379881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575561268	chr3:60379913-60379914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574526046	chr3:60379917-60379918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536557664	chr3:60379989-60379990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570753687	chr3:60381638-60381639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537430332	chr3:60381682-60381683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116992617	chr3:60381683-60381684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567766535	chr3:60381707-60381708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535182134	chr3:60381745-60381746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553912103	chr3:60381767-60381768	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Cancer	18162546	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60371800-60372400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:60372000-60372400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr3:60374400-60375000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr3:60379800-60380000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:60381600-60382000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:60382000-60386200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:60383200-60384000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:60384000-60388800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:60385000-60385400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:60385000-60386200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:60385000-60389600	Enhancers	Fetal Heart	heart
12	chr3:60385000-60399800	Weak transcription	K562	blood
13	chr3:60385200-60386400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:60385200-60387400	Enhancers	Psoas Muscle	Psoas
15	chr3:60385200-60387400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr3:60385200-60388800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:60385400-60386000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:60385400-60386600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr3:60385600-60386400	Enhancers	Aorta	Aorta
20	chr3:60385600-60386600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr3:60385800-60386400	Enhancers	Right Ventricle	heart
22	chr3:60385800-60386600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:60385800-60387800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:60386000-60388200	Enhancers	Duodenum Mucosa	Duodenum
25	chr3:60386200-60386400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:60386200-60386400	Enhancers	Left Ventricle	heart
27	chr3:60386200-60388600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:60386400-60387000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:60386400-60389000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:60386600-60387400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:60386800-60387200	Weak transcription	Left Ventricle	heart
32	chr3:60387000-60387200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr3:60387000-60387800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:60387200-60387400	Enhancers	Left Ventricle	heart
35	chr3:60387200-60388600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:60387400-60387600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:60387400-60388800	Weak transcription	Left Ventricle	heart
38	chr3:60387600-60388000	Enhancers	Brain Germinal Matrix	brain
39	chr3:60387600-60389400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr3:60387800-60395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:60388000-60388400	Weak transcription	Brain Germinal Matrix	brain
42	chr3:60388000-60389400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr3:60388400-60389600	Enhancers	Brain Germinal Matrix	brain
44	chr3:60388600-60389200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr3:60388800-60389200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:60389000-60389800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:60389200-60389400	Enhancers	Left Ventricle	heart
48	chr3:60389200-60390800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:60389600-60390000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:60390800-60391400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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