Variant report

Variant	nsv590985
Chromosome Location	chr3:90339717-90487354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:90450072..90451589-chr6:58776092..58777719,4	MCF-7	breast:
2	chr3:90451071..90451591-chr6:58777202..58777887,2	MCF-7	breast:
3	chr3:90451070..90451591-chr6:58777113..58777718,3	MCF-7	breast:
4	chr3:90450069..90451571-chr6:58776178..58778913,3	MCF-7	breast:
5	chr3:90451069..90451589-chr6:58776919..58777844,3	MCF-7	breast:

Extended variants
information (count: 13883 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:13883 , 50 per page) page: 1 2 3 4 5 6 7 ... 278

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386663374	chr3:90339717-90339718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs78453458	chr3:90339718-90339719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs535317448	chr3:90339732-90339733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs553527138	chr3:90339743-90339744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs80186940	chr3:90339756-90339757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs369053891	chr3:90339763-90339764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs372969591	chr3:90339767-90339768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs55747264	chr3:90339775-90339776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs376632189	chr3:90339781-90339782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs377036355	chr3:90339784-90339785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs552616507	chr3:90339786-90339787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs371431618	chr3:90339795-90339796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs374418161	chr3:90339796-90339797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs572905193	chr3:90339803-90339804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544871626	chr3:90339810-90339811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs565127501	chr3:90339811-90339812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs575432174	chr3:90339816-90339817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs368737641	chr3:90339821-90339822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs111993130	chr3:90339855-90339856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs62275125	chr3:90339877-90339878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs62275126	chr3:90339889-90339890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs565666760	chr3:90339891-90339892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs62275127	chr3:90339892-90339893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs547024312	chr3:90339897-90339898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs146934176	chr3:90339926-90339927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs149296652	chr3:90339941-90339942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs148711523	chr3:90339945-90339946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530927201	chr3:90339947-90339948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs141246805	chr3:90339948-90339949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs143208924	chr3:90339957-90339958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs141090519	chr3:90339963-90339964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs535967792	chr3:90339964-90339965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs137992347	chr3:90339966-90339967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs145628842	chr3:90339973-90339974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs145172625	chr3:90339975-90339976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs140428009	chr3:90339978-90339979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs554607659	chr3:90339979-90339980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs148326312	chr3:90339982-90339983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs144764027	chr3:90339983-90339984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs560335998	chr3:90339984-90339985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs139079011	chr3:90339988-90339989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs532688246	chr3:90339991-90339992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs145548377	chr3:90339994-90339995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs146271771	chr3:90340014-90340015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs376200199	chr3:90340019-90340020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200944496	chr3:90340020-90340021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs370622672	chr3:90340022-90340023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs374024370	chr3:90340025-90340026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs377718930	chr3:90340026-90340027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs139346792	chr3:90340032-90340033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:778 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90337800-90342800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:90339800-90340600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr3:90340000-90342600	ZNF genes & repeats	Liver	Liver
4	chr3:90340400-90340600	ZNF genes & repeats	Dnd41	blood
5	chr3:90341400-90345200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:90341800-90343000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr3:90342000-90342800	Active TSS	Right Atrium	heart
8	chr3:90342400-90342800	Active TSS	Aorta	Aorta
9	chr3:90342800-90345200	Weak transcription	Right Atrium	heart
10	chr3:90343800-90347400	Enhancers	Dnd41	blood
11	chr3:90344800-90346400	Weak transcription	Psoas Muscle	Psoas
12	chr3:90345200-90345400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:90345200-90345600	Active TSS	Right Atrium	heart
14	chr3:90346400-90347200	Active TSS	Psoas Muscle	Psoas
15	chr3:90347400-90347600	Weak transcription	Dnd41	blood
16	chr3:90347600-90348800	ZNF genes & repeats	Dnd41	blood
17	chr3:90349800-90350600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr3:90350000-90350400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr3:90350000-90350400	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr3:90350000-90350400	Active TSS	Aorta	Aorta
21	chr3:90350200-90350400	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr3:90350200-90350600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:90351400-90352400	Enhancers	Dnd41	blood
24	chr3:90354000-90355800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr3:90354200-90355800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:90354400-90354800	ZNF genes & repeats	HUVEC	blood vessel
27	chr3:90354600-90354800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
28	chr3:90354600-90354800	Enhancers	Hela-S3	cervix
29	chr3:90354600-90355000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr3:90354600-90355000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr3:90354600-90355000	ZNF genes & repeats	Brain Hippocampus Middle	brain
32	chr3:90354600-90355000	Active TSS	Right Atrium	heart
33	chr3:90354600-90355000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
34	chr3:90355400-90356000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr3:90356000-90356400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:90364600-90369000	ZNF genes & repeats	HepG2	liver
37	chr3:90364600-90369200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:90364800-90365200	ZNF genes & repeats	Colon Smooth Muscle	Colon
39	chr3:90364800-90365200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr3:90364800-90365200	ZNF genes & repeats	HUVEC	blood vessel
41	chr3:90364800-90369200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr3:90364800-90369200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr3:90365000-90369000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr3:90365600-90369000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr3:90365800-90366800	Weak transcription	Gastric	stomach
46	chr3:90366400-90367200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr3:90366800-90367000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:90366800-90367000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
49	chr3:90366800-90367000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
50	chr3:90366800-90367000	ZNF genes & repeats	Dnd41	blood

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