Variant report

Variant	nsv1007432
Chromosome Location	chr3:60235076-60253575
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:60233213..60236039-chr3:60237445..60240033,2	K562	blood:
2	chr3:60248856..60251063-chr3:60252178..60253698,2	K562	blood:
3	chr3:60251900..60257769-chr3:60262692..60266340,5	K562	blood:
4	chr3:60253037..60257484-chr3:60258010..60262494,9	K562	blood:
5	chr3:60227860..60230033-chr3:60233057..60236236,5	K562	blood:
6	chr3:60250531..60257484-chr3:60260695..60265801,11	K562	blood:
7	chr3:60244807..60248517-chr3:60249578..60252504,4	K562	blood:
8	chr3:60243402..60246307-chr3:60248980..60251582,2	K562	blood:
9	chr3:60238823..60240958-chr3:60247675..60249888,2	K562	blood:
10	chr3:60248856..60251063-chr3:60252178..60253698,2	K562	blood:
11	chr3:60233213..60236039-chr3:60237445..60240033,2	K562	blood:
12	chr3:60244807..60248517-chr3:60249578..60252504,4	K562	blood:
13	chr3:60243402..60246307-chr3:60248980..60251582,2	K562	blood:
14	chr3:60238823..60240958-chr3:60247675..60249888,2	K562	blood:
15	chr3:60244130..60245681-chr3:60258765..60261150,2	K562	blood:
16	chr3:60248856..60251161-chr3:60252178..60254260,3	K562	blood:
17	chr3:60234763..60239313-chr3:60259101..60264028,5	K562	blood:
18	chr3:60248856..60251161-chr3:60252178..60254260,3	K562	blood:
19	chr3:60251080..60254500-chr3:60254648..60256843,3	K562	blood:

No data

Extended variants
information (count: 894 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:894 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541961597	chr3:60235080-60235081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372011720	chr3:60235081-60235082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555427762	chr3:60235089-60235090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76931973	chr3:60235115-60235116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533752961	chr3:60235122-60235123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528036951	chr3:60235130-60235131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142462975	chr3:60235188-60235189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565459327	chr3:60235224-60235225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116699718	chr3:60235244-60235245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17062609	chr3:60235256-60235257	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557503070	chr3:60235261-60235262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552893333	chr3:60235265-60235266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539465245	chr3:60235266-60235267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs397766763	chr3:60235274-60235275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376882273	chr3:60235294-60235295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536993998	chr3:60235375-60235376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76187457	chr3:60235377-60235378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577200159	chr3:60235417-60235418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71890477	chr3:60235418-60235419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563073254	chr3:60235421-60235422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558874605	chr3:60235429-60235430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530758838	chr3:60235443-60235444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59885844	chr3:60235449-60235450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573943106	chr3:60235460-60235461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191127940	chr3:60235461-60235462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559563848	chr3:60235477-60235478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578166877	chr3:60235482-60235483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147947677	chr3:60235524-60235525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563576489	chr3:60235527-60235528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530934816	chr3:60235533-60235534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7650713	chr3:60235541-60235542	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561641483	chr3:60235557-60235558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528731692	chr3:60235580-60235581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183269560	chr3:60235591-60235592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571492320	chr3:60235681-60235682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75621567	chr3:60235708-60235709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188997891	chr3:60235713-60235714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192960695	chr3:60235733-60235734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183662785	chr3:60235787-60235788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367576351	chr3:60235796-60235797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537340988	chr3:60235800-60235801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556637772	chr3:60235804-60235805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555406796	chr3:60235814-60235815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567247032	chr3:60235840-60235841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141774637	chr3:60235841-60235842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9855768	chr3:60235846-60235847	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577818668	chr3:60235848-60235849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371665155	chr3:60235850-60235851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74278852	chr3:60235868-60235869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111350032	chr3:60235875-60235876	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
Acute lymphoblastic leukemia	21248843	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60227400-60235800	Weak transcription	Dnd41	blood
2	chr3:60232600-60237800	Enhancers	K562	blood
3	chr3:60235600-60236600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr3:60235800-60237200	Enhancers	Dnd41	blood
5	chr3:60237200-60242200	Weak transcription	Dnd41	blood
6	chr3:60237800-60241200	Weak transcription	K562	blood
7	chr3:60241200-60242400	Enhancers	K562	blood
8	chr3:60242000-60242800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:60242200-60243400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr3:60242200-60248600	Enhancers	Dnd41	blood
11	chr3:60242400-60242800	Enhancers	Primary B cells from cord blood	blood
12	chr3:60242400-60242800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr3:60242400-60242800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr3:60242400-60243200	Enhancers	Primary T cells from cord blood	blood
15	chr3:60242400-60243200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr3:60242400-60243400	Enhancers	Primary B cells from peripheral blood	blood
17	chr3:60242400-60243400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:60242400-60243400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr3:60242400-60244600	Weak transcription	K562	blood
20	chr3:60242600-60243400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr3:60242600-60243400	Enhancers	Thymus	Thymus
22	chr3:60242800-60247400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr3:60242800-60248200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:60243200-60244400	Weak transcription	Primary T cells from cord blood	blood
25	chr3:60243200-60247600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr3:60243400-60244800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr3:60243400-60245000	Weak transcription	Thymus	Thymus
28	chr3:60243400-60249200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:60244400-60245800	Enhancers	Primary T cells from cord blood	blood
30	chr3:60244600-60246800	Enhancers	Primary hematopoietic stem cells	blood
31	chr3:60244600-60247600	Enhancers	K562	blood
32	chr3:60244800-60246800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr3:60245000-60246000	Enhancers	Thymus	Thymus
34	chr3:60245000-60246200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:60245200-60245600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr3:60245200-60245800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:60245400-60246600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:60245800-60248000	Weak transcription	Primary T cells from cord blood	blood
39	chr3:60246000-60247400	Weak transcription	Thymus	Thymus
40	chr3:60246800-60248000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:60247400-60247600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr3:60247400-60247600	Enhancers	Aorta	Aorta
43	chr3:60247400-60247800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr3:60247400-60248400	Enhancers	Fetal Thymus	thymus
45	chr3:60247400-60248400	Enhancers	Thymus	Thymus
46	chr3:60247600-60248200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr3:60247600-60249400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr3:60247600-60251800	Weak transcription	K562	blood
49	chr3:60247800-60248800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr3:60248000-60249200	Enhancers	Primary T cells from cord blood	blood

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