Variant report

Variant	nsv1008916
Chromosome Location	chr3:89206065-89241915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:89223473..89225320-chr3:89226807..89228662,2	K562	blood:
2	chr3:89223473..89225320-chr3:89226807..89228662,2	K562	blood:
3	chr3:89207136..89210104-chr3:89214868..89216855,2	MCF-7	breast:
4	chr10:75910543..75911043-chr3:89208197..89208700,2	Hela-S3	cervix:
5	chr3:89207136..89210104-chr3:89214868..89216855,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185009	chromatin interactions
ENSG00000156110	chromatin interactions

Extended variants
information (count: 1091 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1091 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572965783	chr3:89206107-89206108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533955881	chr3:89206153-89206154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183426456	chr3:89206159-89206160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577203349	chr3:89206198-89206199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187321349	chr3:89206234-89206235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141992287	chr3:89206254-89206255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538136386	chr3:89206320-89206321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574459696	chr3:89206321-89206322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549714164	chr3:89206332-89206333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571286373	chr3:89206457-89206458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567343815	chr3:89206464-89206465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538682469	chr3:89206467-89206468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541878270	chr3:89206468-89206469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191728760	chr3:89206484-89206485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79354175	chr3:89206489-89206490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376519188	chr3:89206523-89206524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376094438	chr3:89206553-89206554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546778364	chr3:89206559-89206560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369783376	chr3:89206574-89206575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532619741	chr3:89206576-89206577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550707864	chr3:89206628-89206629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182396841	chr3:89206636-89206637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536369638	chr3:89206651-89206652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150997844	chr3:89206699-89206700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376068316	chr3:89206700-89206701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548692125	chr3:89206770-89206771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566956613	chr3:89206884-89206885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369132808	chr3:89206911-89206912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558783779	chr3:89206917-89206918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577215657	chr3:89206943-89206944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538100377	chr3:89206948-89206949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555906418	chr3:89206974-89206975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574399333	chr3:89206998-89206999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556026152	chr3:89207013-89207014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59841206	chr3:89207014-89207015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397976348	chr3:89207024-89207025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62274622	chr3:89207027-89207028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7430050	chr3:89207119-89207120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35747036	chr3:89207193-89207194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541442502	chr3:89207221-89207222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11128068	chr3:89207222-89207223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs186677947	chr3:89207270-89207271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540429481	chr3:89207279-89207280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572179575	chr3:89207320-89207321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565095172	chr3:89207326-89207327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532681664	chr3:89207329-89207330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551227639	chr3:89207378-89207379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563020034	chr3:89207451-89207452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376247876	chr3:89207563-89207564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536350964	chr3:89207592-89207593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	19651600	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89204800-89207200	Enhancers	Fetal Lung	lung
2	chr3:89205400-89206200	Weak transcription	Brain Anterior Caudate	brain
3	chr3:89205600-89206200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:89205600-89206200	Enhancers	Fetal Stomach	stomach
5	chr3:89205800-89206200	Enhancers	Stomach Smooth Muscle	stomach
6	chr3:89205800-89206800	Enhancers	Fetal Brain Female	brain
7	chr3:89205800-89210200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:89206000-89211800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:89206200-89206400	Enhancers	Brain Anterior Caudate	brain
10	chr3:89206800-89207000	Enhancers	Fetal Brain Male	brain
11	chr3:89206800-89208200	Weak transcription	Fetal Brain Female	brain
12	chr3:89207200-89208600	Weak transcription	Fetal Brain Male	brain
13	chr3:89208400-89208600	Enhancers	Fetal Brain Female	brain
14	chr3:89208600-89208800	Enhancers	Fetal Brain Male	brain
15	chr3:89208800-89209600	Weak transcription	Fetal Brain Male	brain
16	chr3:89209600-89209800	Enhancers	Fetal Brain Male	brain
17	chr3:89210200-89210400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:89210400-89212200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:89211400-89212200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:89211600-89211800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:89211600-89211800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:89211600-89211800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:89211600-89212000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:89211600-89212200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:89211600-89212200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:89211600-89217400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr3:89211800-89212200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr3:89211800-89212200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:89211800-89213400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:89211800-89213600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:89212000-89213200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:89212000-89213600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:89212200-89213600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:89212200-89213800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:89212200-89214000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:89212200-89215000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:89213200-89215000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr3:89213400-89218400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:89213600-89214400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:89213600-89214600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr3:89213600-89216200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr3:89213800-89214400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:89213800-89215000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:89213800-89216200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:89214000-89215600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:89214000-89215800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr3:89214000-89217400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:89214000-89218200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:89214400-89214800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:89214400-89215400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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