Variant report

Variant	nsv470616
Chromosome Location	chr3:59842644-59877988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:59593238..59594045-chr3:59842694..59843779,3	MCF-7	breast:
2	chr3:59560813..59561442-chr3:59843559..59844061,2	MCF-7	breast:
3	chr3:59560849..59562291-chr3:59843175..59844082,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD6-8	chr3:59846693-59846897	NONHSAT090156
2	lnc-KCTD6-8	chr3:59846047-59846080	NONHSAT090156

Extended variants
information (count: 1733 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1733 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs684584	chr3:59842644-59842645	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560490874	chr3:59842664-59842665	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs140532362	chr3:59842666-59842667	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs565874166	chr3:59842667-59842668	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs561044745	chr3:59842685-59842686	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs35230709	chr3:59842727-59842728	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs78951941	chr3:59842736-59842737	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs540054452	chr3:59842741-59842742	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs565338138	chr3:59842743-59842744	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532507941	chr3:59842749-59842750	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs150435046	chr3:59842751-59842752	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs568937221	chr3:59842753-59842754	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs192036482	chr3:59842817-59842818	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs548828341	chr3:59842840-59842841	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs567055330	chr3:59842876-59842877	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs534362063	chr3:59842897-59842898	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs182822397	chr3:59842909-59842910	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs561322297	chr3:59842938-59842939	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571362945	chr3:59842972-59842973	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs138182810	chr3:59842987-59842988	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs149564451	chr3:59842988-59842989	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs146056290	chr3:59842999-59843000	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs542282398	chr3:59843002-59843003	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs554799721	chr3:59843048-59843049	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs573061317	chr3:59843054-59843055	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs540411395	chr3:59843062-59843063	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs528473	chr3:59843064-59843065	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564784155	chr3:59843074-59843075	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs672225	chr3:59843076-59843077	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs576903226	chr3:59843090-59843091	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs544333981	chr3:59843107-59843108	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs562657879	chr3:59843148-59843149	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs626988	chr3:59843156-59843157	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114279483	chr3:59843214-59843215	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs569395218	chr3:59843239-59843240	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs560830869	chr3:59843247-59843248	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs200621885	chr3:59843256-59843257	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs10678623	chr3:59843257-59843258	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs35158575	chr3:59843258-59843259	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs398105914	chr3:59843261-59843262	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs202242641	chr3:59843262-59843263	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs200473008	chr3:59843263-59843264	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs369063425	chr3:59843265-59843266	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs372223848	chr3:59843267-59843268	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs555048139	chr3:59843274-59843275	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs138783173	chr3:59843308-59843309	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs141825259	chr3:59843398-59843399	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs146254052	chr3:59843399-59843400	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs115892260	chr3:59843402-59843403	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs111859212	chr3:59843405-59843406	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59827000-59842800	Weak transcription	Thymus	Thymus
2	chr3:59827200-59843400	Weak transcription	Dnd41	blood
3	chr3:59827400-59842800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:59828000-59842800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr3:59834000-59843000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr3:59834000-59848000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:59840200-59842800	Weak transcription	Primary T cells from cord blood	blood
8	chr3:59840800-59842800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:59842400-59843400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:59842600-59843600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:59842600-59843800	Enhancers	Fetal Thymus	thymus
12	chr3:59842800-59843000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:59842800-59843000	Enhancers	A549	lung
14	chr3:59842800-59843200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:59842800-59843400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:59842800-59843400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr3:59842800-59843600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr3:59842800-59843600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:59842800-59843600	Enhancers	Fetal Intestine Small	intestine
20	chr3:59842800-59843800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr3:59842800-59844000	Enhancers	Primary T cells from cord blood	blood
22	chr3:59842800-59844000	Enhancers	Thymus	Thymus
23	chr3:59843000-59843200	Flanking Active TSS	A549	lung
24	chr3:59843000-59843600	Enhancers	Fetal Heart	heart
25	chr3:59843000-59843800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr3:59843000-59844000	Enhancers	Stomach Mucosa	stomach
27	chr3:59843000-59844600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr3:59843200-59843400	Enhancers	A549	lung
29	chr3:59843200-59843600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:59843200-59843600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:59843200-59843600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:59843200-59843600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr3:59843200-59843600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:59843200-59843600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:59843200-59843600	Enhancers	Brain Substantia Nigra	brain
36	chr3:59843200-59843600	Enhancers	Fetal Lung	lung
37	chr3:59843200-59843600	Enhancers	Osteobl	bone
38	chr3:59843400-59843600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr3:59843400-59843600	Enhancers	Liver	Liver
40	chr3:59843400-59843600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr3:59843400-59843600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr3:59843400-59843600	Active TSS	A549	lung
43	chr3:59843400-59843600	Enhancers	HSMMtube	muscle
44	chr3:59843400-59843800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:59843400-59843800	Enhancers	Dnd41	blood
46	chr3:59843600-59845000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:59843600-59853200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr3:59843600-59853200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr3:59843600-59854200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr3:59843800-59844200	Weak transcription	Fetal Thymus	thymus

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