Variant report

Variant	nsv522622
Chromosome Location	chr3:85352957-85366517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85353497..85354172-chr3:85624891..85625399,2	MCF-7	breast:
2	chr3:85364029..85366181-chr3:85371658..85373734,2	K562	blood:
3	chr3:85353413..85354226-chr3:85409666..85410591,2	MCF-7	breast:
4	chr3:85353254..85353869-chr3:85625261..85626043,2	MCF-7	breast:
5	chr3:85353354..85354461-chr3:85391496..85392792,4	MCF-7	breast:
6	chr3:85353291..85354669-chr3:85409554..85410988,3	K562	blood:
7	chr3:85353629..85354290-chr3:85624959..85625479,2	K562	blood:

Extended variants
information (count: 468 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11926317	chr3:85352957-85352958	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76693150	chr3:85352989-85352990	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72921337	chr3:85353020-85353021	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553173001	chr3:85353080-85353081	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs191619486	chr3:85353108-85353109	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs545069141	chr3:85353113-85353114	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563677059	chr3:85353115-85353116	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs534937899	chr3:85353118-85353119	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs575543906	chr3:85353202-85353203	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs369131083	chr3:85353240-85353241	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs369793775	chr3:85353299-85353300	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs13087094	chr3:85353328-85353329	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138884441	chr3:85353360-85353361	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs184561092	chr3:85353365-85353366	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs556922916	chr3:85353380-85353381	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs541155931	chr3:85353382-85353383	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs532836915	chr3:85353408-85353409	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs188969507	chr3:85353485-85353486	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs535607180	chr3:85353517-85353518	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs532992241	chr3:85353542-85353543	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs551081815	chr3:85353548-85353549	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs373623006	chr3:85353638-85353639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112400012	chr3:85353650-85353651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569622410	chr3:85353778-85353779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375062594	chr3:85353802-85353803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530846937	chr3:85353855-85353856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549264532	chr3:85353856-85353857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557403187	chr3:85353881-85353882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80144803	chr3:85353897-85353898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534493655	chr3:85353907-85353908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553476322	chr3:85353922-85353923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546167469	chr3:85354045-85354046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372820140	chr3:85354055-85354056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539081235	chr3:85354058-85354059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556941752	chr3:85354074-85354075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141934053	chr3:85354082-85354083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542931866	chr3:85354089-85354090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554829932	chr3:85354094-85354095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545508095	chr3:85354121-85354122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540467912	chr3:85354132-85354133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542348662	chr3:85354160-85354161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558899330	chr3:85354165-85354166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532888082	chr3:85354244-85354245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558905794	chr3:85354257-85354258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545058790	chr3:85354264-85354265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181659604	chr3:85354336-85354337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530502896	chr3:85354340-85354341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528185967	chr3:85354343-85354344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187628412	chr3:85354357-85354358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567561416	chr3:85354365-85354366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	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
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85352000-85365800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:85352200-85353200	Active TSS	Brain Substantia Nigra	brain
3	chr3:85352200-85353400	Active TSS	Brain Hippocampus Middle	brain
4	chr3:85352400-85353000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:85352400-85353600	Active TSS	Brain Angular Gyrus	brain
6	chr3:85352600-85353400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:85352600-85353600	Weak transcription	Brain Germinal Matrix	brain
8	chr3:85352600-85366000	Weak transcription	Fetal Brain Male	brain
9	chr3:85352800-85353000	Active TSS	Brain Anterior Caudate	brain
10	chr3:85352800-85355200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:85353000-85354400	Weak transcription	Brain Anterior Caudate	brain
12	chr3:85353000-85366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:85353200-85353400	Enhancers	Brain Substantia Nigra	brain
14	chr3:85353400-85353600	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr3:85353400-85353800	Enhancers	Brain Hippocampus Middle	brain
16	chr3:85353600-85353800	Enhancers	Brain Germinal Matrix	brain
17	chr3:85353600-85355600	Weak transcription	Brain Substantia Nigra	brain
18	chr3:85353600-85358200	Weak transcription	Brain Angular Gyrus	brain
19	chr3:85353800-85355000	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:85354400-85355600	Enhancers	Brain Anterior Caudate	brain
21	chr3:85355000-85355400	Enhancers	Brain Hippocampus Middle	brain
22	chr3:85355200-85355400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:85355400-85358200	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:85355600-85356200	Enhancers	Brain Substantia Nigra	brain
25	chr3:85355600-85368600	Weak transcription	Brain Anterior Caudate	brain
26	chr3:85356200-85357800	Weak transcription	Brain Substantia Nigra	brain
27	chr3:85357800-85358200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr3:85357800-85360000	Enhancers	Brain Substantia Nigra	brain
29	chr3:85358200-85358600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr3:85358200-85359000	Enhancers	Brain Angular Gyrus	brain
31	chr3:85358200-85359000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr3:85358200-85359200	Enhancers	Brain Hippocampus Middle	brain
33	chr3:85358800-85359600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:85359000-85359600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr3:85359200-85359600	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:85359600-85359800	Enhancers	Brain Hippocampus Middle	brain
37	chr3:85359600-85366000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:85359800-85366000	Weak transcription	Brain Hippocampus Middle	brain
39	chr3:85360000-85365400	Weak transcription	Brain Substantia Nigra	brain
40	chr3:85362200-85362800	Enhancers	A549	lung
41	chr3:85365400-85366200	Enhancers	Brain Substantia Nigra	brain
42	chr3:85365800-85366200	Enhancers	Brain Cingulate Gyrus	brain
43	chr3:85366000-85366200	Enhancers	Brain Hippocampus Middle	brain
44	chr3:85366000-85366400	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links