Variant report

Variant	nsv590897
Chromosome Location	chr3:85122624-85187085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:80636124..80636926-chr3:85151824..85152666,2	Hela-S3	cervix:
2	chr17:56707416..56709502-chr3:85166850..85168946,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 2493 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2493 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6790864	chr3:85122624-85122625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566657094	chr3:85122640-85122641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146401598	chr3:85122646-85122647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558572434	chr3:85122686-85122687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377493245	chr3:85122705-85122706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73843277	chr3:85122712-85122713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539902705	chr3:85122723-85122724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553168399	chr3:85122772-85122773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538164808	chr3:85122873-85122874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73843278	chr3:85122897-85122898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs6791035	chr3:85122909-85122910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545712263	chr3:85122948-85122949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138411436	chr3:85122962-85122963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533314700	chr3:85122963-85122964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142999555	chr3:85123027-85123028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551604155	chr3:85123059-85123060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72903377	chr3:85123073-85123074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs34501256	chr3:85123091-85123092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144343713	chr3:85123098-85123099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77517573	chr3:85123114-85123115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368850456	chr3:85123171-85123172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550625009	chr3:85123179-85123180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561218116	chr3:85123198-85123199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9855054	chr3:85123212-85123213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529931728	chr3:85123214-85123215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188984772	chr3:85123218-85123219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566325290	chr3:85123223-85123224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534064651	chr3:85123272-85123273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552210378	chr3:85123329-85123330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12633191	chr3:85123352-85123353	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538210587	chr3:85123354-85123355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556594252	chr3:85123379-85123380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181381974	chr3:85123414-85123415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372422048	chr3:85123467-85123468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376015538	chr3:85123468-85123469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374404219	chr3:85123488-85123489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148630313	chr3:85123498-85123499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9839194	chr3:85123524-85123525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572631656	chr3:85123533-85123534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72903381	chr3:85123535-85123536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564948302	chr3:85123569-85123570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34653026	chr3:85123606-85123607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34135551	chr3:85123615-85123616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372249787	chr3:85123659-85123660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576781829	chr3:85123685-85123686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75747646	chr3:85123697-85123698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75321413	chr3:85123700-85123701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530048882	chr3:85123703-85123704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541709902	chr3:85123749-85123750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532184234	chr3:85123756-85123757	Weak transcription Enhancers	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:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85106200-85127400	Weak transcription	Brain Hippocampus Middle	brain
2	chr3:85116600-85130400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:85117000-85123600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:85118200-85130400	Weak transcription	Brain Substantia Nigra	brain
5	chr3:85122400-85130800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:85122600-85123200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:85123200-85123400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr3:85123200-85123400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:85123200-85123600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:85123200-85125600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:85123400-85124000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:85123400-85124000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:85123400-85124200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:85123600-85123800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:85123600-85124800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:85123800-85124600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:85124000-85124200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr3:85124000-85124400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:85124200-85127200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr3:85124200-85130400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:85124400-85125400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:85124600-85125000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:85124600-85125000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:85124800-85125400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:85124800-85125600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:85124800-85125600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr3:85125000-85130400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:85125000-85130600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr3:85125400-85130400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:85125400-85130600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:85125600-85130400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:85125600-85130400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:85125600-85130600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:85127200-85127600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr3:85127400-85128000	Enhancers	Brain Hippocampus Middle	brain
36	chr3:85127600-85130400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr3:85128000-85130600	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:85129400-85129800	Enhancers	A549	lung
39	chr3:85129800-85130200	Weak transcription	A549	lung
40	chr3:85130000-85132000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:85130200-85130400	Enhancers	A549	lung
42	chr3:85130200-85131400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr3:85130400-85130600	Flanking Active TSS	A549	lung
44	chr3:85130400-85131000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:85130400-85131000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr3:85130400-85131000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:85130400-85131000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr3:85130400-85131200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr3:85130400-85131600	Enhancers	Brain Anterior Caudate	brain
50	chr3:85130400-85132000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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