Variant report

Variant	nsv1012483
Chromosome Location	chr3:69321191-69340525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:69337831..69342089-chr3:69345739..69348837,3	MCF-7	breast:
2	chr3:69337604..69339250-chr3:69342486..69344051,2	MCF-7	breast:
3	chr3:69311900..69313650-chr3:69322919..69325712,2	MCF-7	breast:

Extended variants
information (count: 777 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:777 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571982493	chr3:69321280-69321281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542995523	chr3:69321393-69321394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541730859	chr3:69321405-69321406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559529876	chr3:69321432-69321433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4855372	chr3:69321438-69321439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192035722	chr3:69321527-69321528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184483732	chr3:69321551-69321552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530634149	chr3:69321553-69321554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550573652	chr3:69321590-69321591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142394107	chr3:69321602-69321603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533361082	chr3:69321608-69321609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541044811	chr3:69321609-69321610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536186709	chr3:69321652-69321653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552922494	chr3:69321704-69321705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188545211	chr3:69321724-69321725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145569036	chr3:69321734-69321735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375259830	chr3:69321797-69321798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538687704	chr3:69321801-69321802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181044630	chr3:69321821-69321822	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578189980	chr3:69321835-69321836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544012570	chr3:69321840-69321841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184936990	chr3:69321850-69321851	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543602008	chr3:69321902-69321903	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574267954	chr3:69321909-69321910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189048549	chr3:69321911-69321912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181002806	chr3:69321957-69321958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10779991	chr3:69321958-69321959	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145964560	chr3:69321959-69321960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565061067	chr3:69322036-69322037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114339166	chr3:69322062-69322063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550735374	chr3:69322078-69322079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567388779	chr3:69322121-69322122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529997007	chr3:69322150-69322151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187124644	chr3:69322173-69322174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546579369	chr3:69322209-69322210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566432389	chr3:69322214-69322215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538651268	chr3:69322228-69322229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35710972	chr3:69322234-69322235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139877505	chr3:69322249-69322250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568961085	chr3:69322255-69322256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35524718	chr3:69322318-69322319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149816036	chr3:69322342-69322343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531284153	chr3:69322351-69322352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111433981	chr3:69322511-69322512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574157035	chr3:69322612-69322613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542018199	chr3:69322622-69322623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536910824	chr3:69322648-69322649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568064013	chr3:69322654-69322655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17005591	chr3:69322662-69322663	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs181587940	chr3:69322675-69322676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69293000-69343400	Weak transcription	HSMM	muscle
2	chr3:69293400-69339200	Weak transcription	Aorta	Aorta
3	chr3:69298000-69329600	Weak transcription	Dnd41	blood
4	chr3:69299400-69331400	Weak transcription	HUVEC	blood vessel
5	chr3:69302600-69322800	Weak transcription	HMEC	breast
6	chr3:69302600-69322800	Weak transcription	NHEK	skin
7	chr3:69302800-69322800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:69309200-69331200	Weak transcription	Fetal Lung	lung
9	chr3:69310000-69321600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:69310000-69337600	Weak transcription	Placenta	Placenta
11	chr3:69310200-69322800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:69310200-69337200	Weak transcription	Lung	lung
13	chr3:69311000-69329200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:69313400-69331000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:69314000-69331400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:69315400-69331400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr3:69317600-69321400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:69317600-69332600	Weak transcription	Brain Anterior Caudate	brain
19	chr3:69319600-69321600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:69320200-69322800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:69320800-69321800	Weak transcription	Brain Angular Gyrus	brain
22	chr3:69320800-69324600	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:69320800-69324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:69320800-69328800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:69320800-69331200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:69321000-69329400	Weak transcription	Brain Substantia Nigra	brain
27	chr3:69321600-69322400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr3:69321600-69323200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:69321800-69322000	Enhancers	Brain Angular Gyrus	brain
30	chr3:69322400-69331000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:69322800-69323000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:69322800-69323600	Enhancers	HMEC	breast
33	chr3:69322800-69324000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:69322800-69324000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:69322800-69324000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:69322800-69324400	Enhancers	NHEK	skin
37	chr3:69322800-69324800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:69323000-69323400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:69323000-69323400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:69323000-69323400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:69323000-69323600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:69323000-69323600	Enhancers	Fetal Heart	heart
43	chr3:69323000-69339200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:69323200-69331400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:69323400-69326200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:69323600-69325600	Weak transcription	HMEC	breast
47	chr3:69323600-69326000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:69323600-69331000	Weak transcription	Fetal Heart	heart
49	chr3:69324000-69325400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:69324000-69325400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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