Variant report

Variant	nsv532625
Chromosome Location	chr3:60445746-60517859
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:60476221..60479058-chr3:60482642..60484706,2	K562	blood:
2	chr3:60263321..60265309-chr3:60503721..60505576,2	K562	blood:
3	chr3:60492215..60494697-chr3:60503496..60505338,2	K562	blood:
4	chr3:60486499..60489215-chr3:60499142..60502130,2	K562	blood:
5	chr3:60503536..60506034-chr3:60508761..60510926,2	K562	blood:
6	chr3:60492215..60494697-chr3:60503496..60505338,2	K562	blood:
7	chr3:60509060..60510930-chr3:60511428..60512938,2	K562	blood:
8	chr3:60488135..60490633-chr3:60491194..60494068,2	K562	blood:
9	chr3:60468425..60470651-chr3:60470930..60473335,2	K562	blood:
10	chr3:60502053..60505036-chr3:60509426..60512103,2	K562	blood:
11	chr3:60483853..60486464-chr3:60489187..60492049,2	K562	blood:
12	chr3:60506754..60508368-chr3:60516500..60519417,2	K562	blood:
13	chr3:60506754..60508368-chr3:60516500..60519417,2	K562	blood:
14	chr3:60486499..60489215-chr3:60499142..60502130,2	K562	blood:
15	chr3:60503536..60506034-chr3:60508761..60510926,2	K562	blood:
16	chr3:60467604..60470651-chr3:60470930..60473335,3	K562	blood:
17	chr3:60467604..60470651-chr3:60470930..60473335,3	K562	blood:
18	chr3:60475674..60478079-chr3:60479619..60482202,2	K562	blood:
19	chr3:60483853..60486464-chr3:60489187..60492049,2	K562	blood:
20	chr3:60500352..60502884-chr3:60536251..60537952,2	K562	blood:
21	chr3:60502053..60505036-chr3:60509426..60512103,2	K562	blood:
22	chr3:60468425..60470651-chr3:60470930..60473335,2	K562	blood:
23	chr3:60476221..60479058-chr3:60482642..60484706,2	K562	blood:
24	chr3:60475674..60478079-chr3:60479619..60482202,2	K562	blood:
25	chr3:60488135..60490633-chr3:60491194..60494068,2	K562	blood:
26	chr3:60509060..60510930-chr3:60511428..60512938,2	K562	blood:

No data

Extended variants
information (count: 1614 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1614 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531568349	chr3:60446407-60446408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146061376	chr3:60446424-60446425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71313772	chr3:60446428-60446429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192446228	chr3:60446430-60446431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115327627	chr3:60446435-60446436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566703433	chr3:60446440-60446441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527571045	chr3:60446442-60446443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140047195	chr3:60446487-60446488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538216757	chr3:60446528-60446529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182018127	chr3:60446531-60446532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542769750	chr3:60446560-60446561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537795145	chr3:60446568-60446569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554698798	chr3:60446639-60446640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574164934	chr3:60446641-60446642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556134486	chr3:60446642-60446643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568058829	chr3:60446650-60446651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535565556	chr3:60446757-60446758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569339348	chr3:60446771-60446772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72878721	chr3:60446795-60446796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572269941	chr3:60446796-60446797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs5849366	chr3:60446809-60446810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3060261	chr3:60446810-60446811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370812886	chr3:60446812-60446813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187166046	chr3:60446828-60446829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77800664	chr3:60446841-60446842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149795521	chr3:60446852-60446853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190610883	chr3:60446883-60446884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2885639	chr3:60446894-60446895	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373757486	chr3:60446904-60446905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536000096	chr3:60446907-60446908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529350793	chr3:60446928-60446929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554358757	chr3:60446964-60446965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563370655	chr3:60446966-60446967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs484579	chr3:60447000-60447001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs520737	chr3:60447002-60447003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79988792	chr3:60447040-60447041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs521599	chr3:60447073-60447074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4395357	chr3:60447082-60447083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570718598	chr3:60447093-60447094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs400030	chr3:60447141-60447142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549105736	chr3:60447145-60447146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531678921	chr3:60447156-60447157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs381660	chr3:60447172-60447173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549489868	chr3:60447173-60447174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73833904	chr3:60447183-60447184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs386396792	chr3:60447184-60447185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397939659	chr3:60447191-60447192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371522856	chr3:60447192-60447193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374425462	chr3:60447193-60447194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182719238	chr3:60447202-60447203	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Gastric cancer	22315472	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60446400-60448000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:60446600-60447600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:60446800-60447600	Enhancers	Adipose Nuclei	Adipose
4	chr3:60447200-60447800	Enhancers	Fetal Muscle Leg	muscle
5	chr3:60448400-60448600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:60448400-60448800	Enhancers	Pancreas	Pancrea
7	chr3:60449200-60449600	Enhancers	Fetal Intestine Large	intestine
8	chr3:60449200-60450000	Enhancers	Duodenum Mucosa	Duodenum
9	chr3:60449200-60450000	Enhancers	Fetal Intestine Small	intestine
10	chr3:60449200-60450000	Enhancers	Stomach Mucosa	stomach
11	chr3:60454600-60455400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:60454600-60455400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:60454800-60455400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:60455000-60455600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:60455400-60458600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:60455600-60458800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:60458600-60458800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:60458600-60459200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:60458800-60459200	Enhancers	Brain Germinal Matrix	brain
20	chr3:60458800-60459400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:60458800-60459400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:60459400-60461600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:60459400-60462000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:60460800-60462200	Enhancers	Fetal Heart	heart
25	chr3:60461200-60461600	Enhancers	Left Ventricle	heart
26	chr3:60461200-60461600	Enhancers	Right Atrium	heart
27	chr3:60461600-60462000	Weak transcription	Left Ventricle	heart
28	chr3:60462000-60462400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:60462000-60462600	Enhancers	Left Ventricle	heart
30	chr3:60462200-60464200	Weak transcription	Fetal Heart	heart
31	chr3:60463800-60464200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr3:60464200-60464600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr3:60464200-60464600	Enhancers	Fetal Heart	heart
34	chr3:60464400-60466400	Weak transcription	Ovary	ovary
35	chr3:60472200-60472400	Enhancers	Fetal Intestine Large	intestine
36	chr3:60472200-60472800	Enhancers	Fetal Intestine Small	intestine
37	chr3:60472400-60473200	Weak transcription	Fetal Intestine Large	intestine
38	chr3:60472800-60473800	Weak transcription	Fetal Intestine Small	intestine
39	chr3:60473200-60473800	Enhancers	Duodenum Mucosa	Duodenum
40	chr3:60473200-60474400	Enhancers	Fetal Intestine Large	intestine
41	chr3:60473400-60473800	Enhancers	Fetal Heart	heart
42	chr3:60473800-60474200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:60473800-60474400	Enhancers	Gastric	stomach
44	chr3:60474000-60474200	Enhancers	Fetal Intestine Small	intestine
45	chr3:60483200-60484000	Enhancers	Brain Germinal Matrix	brain
46	chr3:60483400-60483800	Enhancers	Fetal Lung	lung
47	chr3:60483400-60485000	Enhancers	Fetal Heart	heart
48	chr3:60483600-60484000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:60483600-60484000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr3:60483600-60484000	Enhancers	Fetal Brain Female	brain

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