Variant report

Variant	nsv999046
Chromosome Location	chr3:70549472-70576944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:70560159..70562537-chr3:70565341..70567926,2	K562	blood:
2	chr3:70575325..70577197-chr3:70579075..70581021,2	MCF-7	breast:
3	chr3:70560159..70562537-chr3:70565341..70567926,2	K562	blood:

Extended variants
information (count: 554 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145393190	chr3:70549843-70549844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569917367	chr3:70549858-70549859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115343620	chr3:70549871-70549872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545782598	chr3:70549905-70549906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189996192	chr3:70549922-70549923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368822668	chr3:70549932-70549933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72951095	chr3:70549950-70549951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548371513	chr3:70549961-70549962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561694943	chr3:70549994-70549995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527400551	chr3:70549995-70549996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535794500	chr3:70549998-70549999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371497040	chr3:70550026-70550027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547207306	chr3:70550030-70550031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570548940	chr3:70550032-70550033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377269780	chr3:70550097-70550098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149222617	chr3:70550117-70550118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549802054	chr3:70550128-70550129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558156195	chr3:70550141-70550142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538501347	chr3:70550161-70550162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148106981	chr3:70550192-70550193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6796357	chr3:70550200-70550201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574906889	chr3:70550231-70550232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76153539	chr3:70550267-70550268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181254811	chr3:70550284-70550285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554013504	chr3:70550315-70550316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576922351	chr3:70550331-70550332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556816204	chr3:70550349-70550350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565956073	chr3:70550387-70550388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150248304	chr3:70550388-70550389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1491609	chr3:70550462-70550463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562500945	chr3:70550542-70550543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536039500	chr3:70550550-70550551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143217039	chr3:70550580-70550581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541727812	chr3:70550672-70550673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578081780	chr3:70550738-70550739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185317529	chr3:70550746-70550747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139085553	chr3:70550766-70550767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547562474	chr3:70550986-70550987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540665771	chr3:70551032-70551033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201776093	chr3:70551058-70551059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533012849	chr3:70551064-70551065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189680734	chr3:70551068-70551069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569636588	chr3:70551075-70551076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538552178	chr3:70551081-70551082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548635190	chr3:70551084-70551085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568726631	chr3:70551125-70551126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534173756	chr3:70551165-70551166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553899967	chr3:70551200-70551201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576931838	chr3:70551222-70551223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79863446	chr3:70551232-70551233	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	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
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	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
Esophageal squamous carcinoma	18405350	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
Acute lymphoblastic leukemia	21339820	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Mental retardation	17847001	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:70549800-70551800	Enhancers	Fetal Thymus	thymus
2	chr3:70550000-70551400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:70550400-70551200	Enhancers	Dnd41	blood
4	chr3:70550600-70551000	Enhancers	Primary hematopoietic stem cells	blood
5	chr3:70550600-70551000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:70550600-70551600	Enhancers	Primary B cells from cord blood	blood
7	chr3:70550800-70551000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr3:70550800-70551200	Enhancers	Primary B cells from peripheral blood	blood
9	chr3:70550800-70551200	Enhancers	Primary T cells from cord blood	blood
10	chr3:70550800-70551400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:70554600-70555000	Enhancers	Colon Smooth Muscle	Colon
12	chr3:70554600-70555000	Enhancers	Fetal Stomach	stomach
13	chr3:70554600-70555000	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:70554600-70555200	Enhancers	Fetal Lung	lung
15	chr3:70555200-70556200	Weak transcription	Fetal Lung	lung
16	chr3:70556200-70557000	Enhancers	Fetal Lung	lung
17	chr3:70556600-70557200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr3:70556600-70557400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:70558200-70558800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:70565400-70568400	Enhancers	Fetal Muscle Leg	muscle
21	chr3:70566000-70566800	Enhancers	Brain Germinal Matrix	brain
22	chr3:70566000-70567800	Enhancers	Fetal Stomach	stomach
23	chr3:70566200-70567000	Enhancers	Fetal Brain Female	brain
24	chr3:70566400-70566800	Enhancers	Colon Smooth Muscle	Colon
25	chr3:70566400-70567000	Enhancers	Fetal Brain Male	brain
26	chr3:70566800-70568400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:70567400-70567600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr3:70567600-70567800	Enhancers	Fetal Lung	lung
29	chr3:70567600-70568400	Enhancers	Adipose Nuclei	Adipose
30	chr3:70567600-70568400	Enhancers	Aorta	Aorta
31	chr3:70567600-70570200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr3:70567800-70568000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:70567800-70568400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr3:70567800-70569200	Weak transcription	Fetal Lung	lung
35	chr3:70568000-70568200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:70568000-70569000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:70568200-70568400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr3:70568200-70569800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:70568400-70569000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:70568400-70569400	Weak transcription	Fetal Muscle Leg	muscle
41	chr3:70568400-70569800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr3:70568400-70570200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr3:70568800-70569200	Enhancers	Osteobl	bone
44	chr3:70568800-70570000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr3:70569000-70569400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr3:70569000-70569800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr3:70569000-70569800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr3:70569000-70569800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:70569000-70570200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:70569200-70569800	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links