Variant report

Variant	nsv432421
Chromosome Location	chr3:60073153-60288428
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:83)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:83 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:60265834..60270132-chr3:60272142..60277781,4	K562	blood:
2	chr3:60169452..60171383-chr3:60172881..60175585,3	K562	blood:
3	chr3:60258656..60260421-chr3:60265938..60268428,2	K562	blood:
4	chr3:60243402..60246307-chr3:60248980..60251582,2	K562	blood:
5	chr3:60284006..60286419-chr3:60293595..60296204,2	K562	blood:
6	chr3:60244130..60245681-chr3:60258765..60261150,2	K562	blood:
7	chr3:60251900..60257769-chr3:60262692..60266340,5	K562	blood:
8	chr3:60250531..60257484-chr3:60260695..60265801,11	K562	blood:
9	chr3:60238823..60240958-chr3:60247675..60249888,2	K562	blood:
10	chr3:60259045..60261438-chr3:60261640..60264472,4	K562	blood:
11	chr3:60271832..60274094-chr3:60278099..60280290,3	K562	blood:
12	chr3:60271832..60274094-chr3:60278099..60280290,3	K562	blood:
13	chr3:60258674..60261438-chr3:60261466..60264109,5	K562	blood:
14	chr3:60201561..60203293-chr3:60258409..60260445,2	K562	blood:
15	chr3:60251080..60254500-chr3:60254648..60256843,3	K562	blood:
16	chr3:60227860..60230033-chr3:60233057..60236236,5	K562	blood:
17	chr3:60244130..60245681-chr3:60258765..60261150,2	K562	blood:
18	chr3:60234763..60239313-chr3:60259101..60264028,5	K562	blood:
19	chr3:60248856..60251063-chr3:60252178..60253698,2	K562	blood:
20	chr3:60183906..60185619-chr3:60186648..60189161,2	K562	blood:
21	chr3:60200174..60203052-chr3:60295659..60297420,2	K562	blood:
22	chr3:60256070..60258308-chr3:60290805..60292864,2	K562	blood:
23	chr3:60259045..60261438-chr3:60261640..60264472,4	K562	blood:
24	chr3:60165952..60167759-chr3:60170117..60173099,2	K562	blood:
25	chr3:60233213..60236039-chr3:60237445..60240033,2	K562	blood:
26	chr3:60244807..60248517-chr3:60249578..60252504,4	K562	blood:
27	chr3:60222812..60224764-chr3:60226709..60229125,2	K562	blood:
28	chr3:60255084..60257458-chr3:60258706..60260675,3	K562	blood:
29	chr3:60282564..60285388-chr3:60286384..60290912,4	K562	blood:
30	chr3:60234763..60239313-chr3:60259101..60264028,5	K562	blood:
31	chr3:60120417..60123350-chr3:60125419..60128034,2	K562	blood:
32	chr3:60232635..60234409-chr3:60265559..60267834,2	K562	blood:
33	chr3:60255084..60257458-chr3:60258706..60260675,3	K562	blood:
34	chr3:59988215..59988997-chr3:60152321..60153153,2	MCF-7	breast:
35	chr3:60269337..60271765-chr3:60281168..60285461,3	K562	blood:
36	chr3:60233213..60236039-chr3:60237445..60240033,2	K562	blood:
37	chr3:60244807..60248517-chr3:60249578..60252504,4	K562	blood:
38	chr3:60232635..60234409-chr3:60265559..60267834,2	K562	blood:
39	chr3:60251080..60254500-chr3:60254648..60256843,3	K562	blood:
40	chr3:60264136..60267761-chr3:60268146..60273300,4	K562	blood:
41	chr3:60120417..60123350-chr3:60125419..60128034,2	K562	blood:
42	chr3:60260853..60263177-chr3:60264748..60269648,5	K562	blood:
43	chr3:60263321..60265309-chr3:60503721..60505576,2	K562	blood:
44	chr3:60261650..60264808-chr3:60273372..60278082,5	K562	blood:
45	chr3:60187999..60188742-chr3:60417102..60417817,2	MCF-7	breast:
46	chr3:60258674..60261438-chr3:60261466..60264109,5	K562	blood:
47	chr3:60253037..60257484-chr3:60258010..60262494,9	K562	blood:
48	chr3:60216976..60218581-chr3:60221614..60223794,2	K562	blood:
49	chr3:60261204..60265514-chr3:60273828..60277768,4	K562	blood:
50	chr3:60282564..60285388-chr3:60286384..60290912,4	K562	blood:

No data

Extended variants
information (count: 9924 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:9924 , 50 per page) page: 1 2 3 4 5 6 7 ... 199

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7635362	chr3:60073153-60073154	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558823306	chr3:60073165-60073166	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576920932	chr3:60073175-60073176	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138363395	chr3:60073182-60073183	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184511441	chr3:60073233-60073234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149647669	chr3:60073286-60073287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542130817	chr3:60073294-60073295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560820197	chr3:60073299-60073300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372342833	chr3:60073315-60073316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188861156	chr3:60073330-60073331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116645306	chr3:60073341-60073342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7623993	chr3:60073356-60073357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs7645438	chr3:60073399-60073400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144388484	chr3:60073401-60073402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568841701	chr3:60073414-60073415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148781017	chr3:60073480-60073481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548220385	chr3:60073509-60073510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144831779	chr3:60073567-60073568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533791048	chr3:60073572-60073573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191837830	chr3:60073582-60073583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6446108	chr3:60073590-60073591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs575348639	chr3:60073591-60073592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147496729	chr3:60073602-60073603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6801817	chr3:60073652-60073653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs574771109	chr3:60073673-60073674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6793429	chr3:60073676-60073677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560664476	chr3:60073689-60073690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572696398	chr3:60073721-60073722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377125848	chr3:60073776-60073777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368410404	chr3:60073779-60073780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60890883	chr3:60073780-60073781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576557525	chr3:60073817-60073818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139998998	chr3:60073843-60073844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112858903	chr3:60073858-60073859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564636308	chr3:60073865-60073866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532266738	chr3:60073874-60073875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550721723	chr3:60073876-60073877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183865954	chr3:60073900-60073901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs59706485	chr3:60073902-60073903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs145412161	chr3:60073906-60073907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543940729	chr3:60073925-60073926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58762380	chr3:60073947-60073948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189534567	chr3:60073948-60073949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs397943674	chr3:60073949-60073950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529119744	chr3:60073952-60073953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180672068	chr3:60073953-60073954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374970082	chr3:60073990-60073991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187423191	chr3:60074002-60074003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546420971	chr3:60074008-60074009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570285894	chr3:60074018-60074019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Cancer	20164919	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Glioblastoma multiforme	21569311	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:692 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60068600-60075800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr3:60072200-60074200	Enhancers	Dnd41	blood
3	chr3:60072400-60073200	Enhancers	K562	blood
4	chr3:60072800-60073200	ZNF genes & repeats	Primary T cells from cord blood	blood
5	chr3:60072800-60073200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:60072800-60073200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr3:60072800-60073400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr3:60072800-60075800	Weak transcription	Thymus	Thymus
9	chr3:60072800-60076000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr3:60073000-60073200	Weak transcription	Fetal Thymus	thymus
11	chr3:60073000-60080400	Weak transcription	Primary B cells from cord blood	blood
12	chr3:60073200-60074000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr3:60073200-60074000	Enhancers	Fetal Thymus	thymus
14	chr3:60073200-60075800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr3:60073400-60074000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr3:60074000-60074200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr3:60074000-60075800	Weak transcription	Fetal Thymus	thymus
18	chr3:60074000-60076000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:60074200-60076400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:60075000-60075200	Weak transcription	Primary T cells from cord blood	blood
21	chr3:60075800-60076200	Enhancers	Thymus	Thymus
22	chr3:60075800-60077400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr3:60075800-60077400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr3:60075800-60077800	Enhancers	Fetal Thymus	thymus
25	chr3:60076000-60077000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr3:60076000-60077200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr3:60076200-60076600	Flanking Active TSS	Thymus	Thymus
28	chr3:60076200-60076800	Enhancers	Dnd41	blood
29	chr3:60076200-60077800	Enhancers	Primary T cells from cord blood	blood
30	chr3:60076400-60077400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr3:60076600-60077800	Enhancers	Thymus	Thymus
32	chr3:60076800-60077200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr3:60076800-60080200	Weak transcription	Dnd41	blood
34	chr3:60077000-60080200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr3:60077200-60080000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:60077200-60080200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr3:60077400-60080000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr3:60077400-60080200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:60077400-60080400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr3:60077800-60078800	Weak transcription	Thymus	Thymus
41	chr3:60077800-60080400	Weak transcription	Primary T cells from cord blood	blood
42	chr3:60078800-60079200	ZNF genes & repeats	Thymus	Thymus
43	chr3:60079000-60079600	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr3:60079200-60079400	Enhancers	Gastric	stomach
45	chr3:60079200-60079400	Weak transcription	Thymus	Thymus
46	chr3:60079400-60081800	Weak transcription	Gastric	stomach
47	chr3:60079400-60081800	Enhancers	Thymus	Thymus
48	chr3:60079600-60080800	Weak transcription	Fetal Intestine Small	intestine
49	chr3:60080000-60080600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:60080000-60081000	Enhancers	Primary hematopoietic stem cells	blood

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