Variant report

Variant	nsv590901
Chromosome Location	chr3:85194054-85302473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:
2	chr3:85209393..85211289-chr3:85214657..85216931,2	K562	blood:
3	chr2:75010074..75010799-chr3:85210133..85210807,2	MCF-7	breast:
4	chr3:85243785..85244488-chr6:122933006..122933585,2	MCF-7	breast:
5	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:
6	chr3:85209393..85211289-chr3:85214657..85216931,2	K562	blood:
7	chr14:33567272..33568194-chr3:85240415..85241255,2	MCF-7	breast:

Extended variants
information (count: 2544 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2544 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6774581	chr3:85194054-85194055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548520760	chr3:85194063-85194064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115726526	chr3:85194088-85194089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187266927	chr3:85194089-85194090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558822416	chr3:85194131-85194132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576959272	chr3:85194170-85194171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538003532	chr3:85194260-85194261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73843300	chr3:85194362-85194363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs367971357	chr3:85194378-85194379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577872832	chr3:85194502-85194503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573767869	chr3:85194534-85194535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541791834	chr3:85194574-85194575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74912492	chr3:85194595-85194596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11926791	chr3:85194601-85194602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114861053	chr3:85194611-85194612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78394483	chr3:85194648-85194649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531885394	chr3:85194655-85194656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186585951	chr3:85194687-85194688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562570278	chr3:85194700-85194701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35970898	chr3:85194717-85194718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149659158	chr3:85194734-85194735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548237655	chr3:85194739-85194740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529391901	chr3:85194748-85194749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566462888	chr3:85194813-85194814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549435999	chr3:85194814-85194815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534122210	chr3:85194815-85194816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191870900	chr3:85194886-85194887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201022911	chr3:85194925-85194926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538005402	chr3:85194937-85194938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17022531	chr3:85195002-85195003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs148898998	chr3:85195038-85195039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535538974	chr3:85195043-85195044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553787916	chr3:85195082-85195083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572102374	chr3:85195109-85195110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546090131	chr3:85195140-85195141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564759238	chr3:85195206-85195207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72907144	chr3:85195244-85195245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543969820	chr3:85195297-85195298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562122656	chr3:85195312-85195313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11127880	chr3:85195315-85195316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs75347920	chr3:85195342-85195343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560237843	chr3:85195343-85195344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527240371	chr3:85195347-85195348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552510578	chr3:85195368-85195369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570696164	chr3:85195499-85195500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76484922	chr3:85195526-85195527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538695998	chr3:85195538-85195539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13059287	chr3:85195614-85195615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs13059053	chr3:85195660-85195661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535597316	chr3:85195661-85195662	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:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85169200-85198600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:85191400-85197200	Weak transcription	Brain Anterior Caudate	brain
3	chr3:85193400-85197200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:85193400-85197200	Weak transcription	Brain Substantia Nigra	brain
5	chr3:85195800-85196000	Enhancers	Brain Hippocampus Middle	brain
6	chr3:85196000-85197200	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:85197200-85197400	Enhancers	Brain Cingulate Gyrus	brain
8	chr3:85197200-85197400	Enhancers	Stomach Mucosa	stomach
9	chr3:85197200-85197600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:85197200-85197600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr3:85197200-85197600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:85197200-85197800	Enhancers	Brain Angular Gyrus	brain
13	chr3:85197200-85198200	Enhancers	Brain Anterior Caudate	brain
14	chr3:85197200-85198200	Enhancers	Brain Hippocampus Middle	brain
15	chr3:85197200-85198200	Enhancers	Brain Substantia Nigra	brain
16	chr3:85197400-85197600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:85197400-85209600	Weak transcription	Stomach Mucosa	stomach
18	chr3:85197800-85199000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:85198200-85200200	Weak transcription	Brain Substantia Nigra	brain
20	chr3:85198600-85198800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:85198800-85199200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:85199000-85199400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:85199200-85199400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr3:85199400-85201400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:85199400-85201400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:85199400-85213400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:85200200-85200400	Enhancers	Brain Substantia Nigra	brain
28	chr3:85201400-85201600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr3:85201400-85202600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr3:85208400-85208600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:85208400-85208800	Enhancers	HMEC	breast
32	chr3:85208400-85209200	Enhancers	Fetal Intestine Small	intestine
33	chr3:85208600-85208800	Enhancers	A549	lung
34	chr3:85208600-85210200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:85208800-85210000	Weak transcription	HMEC	breast
36	chr3:85208800-85210400	Weak transcription	A549	lung
37	chr3:85209200-85210400	Weak transcription	Fetal Intestine Small	intestine
38	chr3:85209600-85209800	Enhancers	Stomach Mucosa	stomach
39	chr3:85209800-85210200	Weak transcription	Stomach Mucosa	stomach
40	chr3:85210000-85213800	Enhancers	HMEC	breast
41	chr3:85210000-85214000	Enhancers	NHEK	skin
42	chr3:85210200-85211200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:85210200-85211400	Enhancers	Stomach Mucosa	stomach
44	chr3:85210400-85210600	Flanking Active TSS	A549	lung
45	chr3:85210400-85210800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:85210400-85211200	Enhancers	Fetal Intestine Small	intestine
47	chr3:85210400-85211600	Enhancers	Hela-S3	cervix
48	chr3:85210400-85214000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:85210600-85211000	Active TSS	A549	lung
50	chr3:85210800-85211200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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