Variant report

Variant	nsv590986
Chromosome Location	chr3:90345475-90394328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3135 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:3135 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2198955	chr3:90345475-90345476	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367806492	chr3:90345486-90345487	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561838838	chr3:90345503-90345504	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184902129	chr3:90345521-90345522	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142279751	chr3:90345528-90345529	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190397983	chr3:90345541-90345542	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376053455	chr3:90345590-90345591	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371560854	chr3:90345594-90345595	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549740959	chr3:90345597-90345598	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150821215	chr3:90345617-90345618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139275533	chr3:90345633-90345634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113689509	chr3:90345646-90345647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112337547	chr3:90345655-90345656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112026031	chr3:90345658-90345659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200529771	chr3:90345661-90345662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563727948	chr3:90345671-90345672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534902883	chr3:90345676-90345677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150008875	chr3:90345680-90345681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578246190	chr3:90345682-90345683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181653293	chr3:90345692-90345693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557709916	chr3:90345716-90345717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575915359	chr3:90345723-90345724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78533778	chr3:90345737-90345738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78727970	chr3:90345757-90345758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540850065	chr3:90345776-90345777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563965443	chr3:90345777-90345778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532979811	chr3:90345792-90345793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549628401	chr3:90345821-90345822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2316812	chr3:90345861-90345862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529226580	chr3:90345863-90345864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549404983	chr3:90345885-90345886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116404968	chr3:90345907-90345908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535153461	chr3:90345908-90345909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557561814	chr3:90345918-90345919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571843018	chr3:90345950-90345951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546329811	chr3:90345953-90345954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372621261	chr3:90345964-90345965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377277794	chr3:90345970-90345971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140826889	chr3:90346005-90346006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368629549	chr3:90346016-90346017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574282058	chr3:90346022-90346023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535105117	chr3:90346035-90346036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74332672	chr3:90346044-90346045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568254511	chr3:90346049-90346050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185171547	chr3:90346056-90346057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529043848	chr3:90346072-90346073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532687727	chr3:90346099-90346100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112498402	chr3:90346115-90346116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563852224	chr3:90346125-90346126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577376330	chr3:90346154-90346155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90343800-90347400	Enhancers	Dnd41	blood
2	chr3:90344800-90346400	Weak transcription	Psoas Muscle	Psoas
3	chr3:90345200-90345600	Active TSS	Right Atrium	heart
4	chr3:90346400-90347200	Active TSS	Psoas Muscle	Psoas
5	chr3:90347400-90347600	Weak transcription	Dnd41	blood
6	chr3:90347600-90348800	ZNF genes & repeats	Dnd41	blood
7	chr3:90349800-90350600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr3:90350000-90350400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr3:90350000-90350400	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr3:90350000-90350400	Active TSS	Aorta	Aorta
11	chr3:90350200-90350400	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr3:90350200-90350600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:90351400-90352400	Enhancers	Dnd41	blood
14	chr3:90354000-90355800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr3:90354200-90355800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:90354400-90354800	ZNF genes & repeats	HUVEC	blood vessel
17	chr3:90354600-90354800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
18	chr3:90354600-90354800	Enhancers	Hela-S3	cervix
19	chr3:90354600-90355000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr3:90354600-90355000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr3:90354600-90355000	ZNF genes & repeats	Brain Hippocampus Middle	brain
22	chr3:90354600-90355000	Active TSS	Right Atrium	heart
23	chr3:90354600-90355000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
24	chr3:90355400-90356000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr3:90356000-90356400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:90364600-90369000	ZNF genes & repeats	HepG2	liver
27	chr3:90364600-90369200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:90364800-90365200	ZNF genes & repeats	Colon Smooth Muscle	Colon
29	chr3:90364800-90365200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr3:90364800-90365200	ZNF genes & repeats	HUVEC	blood vessel
31	chr3:90364800-90369200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr3:90364800-90369200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr3:90365000-90369000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chr3:90365600-90369000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr3:90365800-90366800	Weak transcription	Gastric	stomach
36	chr3:90366400-90367200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr3:90366800-90367000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:90366800-90367000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
39	chr3:90366800-90367000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
40	chr3:90366800-90367000	ZNF genes & repeats	Dnd41	blood
41	chr3:90366800-90367000	Bivalent/Poised TSS	HSMM	muscle
42	chr3:90366800-90367000	Active TSS	NHLF	lung
43	chr3:90366800-90367200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:90366800-90367200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:90366800-90367200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr3:90366800-90367200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:90366800-90367200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
48	chr3:90366800-90367200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
49	chr3:90366800-90367200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
50	chr3:90366800-90367200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--

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