Variant report

Variant	nsv590983
Chromosome Location	chr3:90318628-90504645
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:90451071..90451591-chr6:58777202..58777887,2	MCF-7	breast:
2	chr1:121484711..121485425-chr3:90489048..90489568,2	MCF-7	breast:
3	chr1:121484528..121485413-chr3:90489067..90489568,2	MCF-7	breast:
4	chr1:121482979..121485417-chr3:90488047..90489568,4	MCF-7	breast:
5	chr3:90451069..90451589-chr6:58776919..58777844,3	MCF-7	breast:
6	chr19:27739276..27740188-chr3:90489068..90489568,2	MCF-7	breast:
7	chr3:90450069..90451571-chr6:58776178..58778913,3	MCF-7	breast:
8	chr1:121484865..121485406-chr3:90489067..90489568,3	MCF-7	breast:
9	chr1:121483910..121484775-chr3:90489048..90489568,4	MCF-7	breast:
10	chr3:90451070..90451591-chr6:58777113..58777718,3	MCF-7	breast:
11	chr3:90450072..90451589-chr6:58776092..58777719,4	MCF-7	breast:

No data

Extended variants
information (count: 17210 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:17210 , 50 per page) page: 1 2 3 4 5 6 7 ... 345

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188695700	chr3:90320415-90320416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs548315805	chr3:90320419-90320420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs202141492	chr3:90320452-90320453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs557749010	chr3:90320469-90320470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs571270225	chr3:90320479-90320480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577493491	chr3:90320490-90320491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs537150289	chr3:90320564-90320565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs556822734	chr3:90320571-90320572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs183832915	chr3:90320582-90320583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs200209556	chr3:90320586-90320587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs146246773	chr3:90320587-90320588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572768902	chr3:90320595-90320596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs199641305	chr3:90320602-90320603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs112357657	chr3:90320608-90320609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544912480	chr3:90320609-90320610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs112623193	chr3:90320627-90320628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs564890290	chr3:90320636-90320637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs530856479	chr3:90320669-90320670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs79591232	chr3:90320673-90320674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs544683076	chr3:90320696-90320697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561259254	chr3:90320717-90320718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs530292139	chr3:90320745-90320746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs546849124	chr3:90320752-90320753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs560682197	chr3:90320762-90320763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs532810977	chr3:90320769-90320770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs560559537	chr3:90320774-90320775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552954513	chr3:90320775-90320776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs571256115	chr3:90320795-90320796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535319607	chr3:90320810-90320811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112515869	chr3:90320821-90320822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs550631359	chr3:90320823-90320824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200523333	chr3:90320835-90320836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs112115522	chr3:90320849-90320850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs567223538	chr3:90320853-90320854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112773985	chr3:90320854-90320855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553843995	chr3:90320860-90320861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs536363740	chr3:90320886-90320887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs113970545	chr3:90320907-90320908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs552710195	chr3:90320911-90320912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs113083688	chr3:90320920-90320921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs112812700	chr3:90320926-90320927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201277866	chr3:90320951-90320952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs572705033	chr3:90320952-90320953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538543299	chr3:90320956-90320957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs558462274	chr3:90320969-90320970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs575578890	chr3:90320973-90320974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs544306064	chr3:90320976-90320977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs561354786	chr3:90320978-90320979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs574803679	chr3:90320979-90320980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs111989649	chr3:90320987-90320988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:947 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90320400-90322800	ZNF genes & repeats	Liver	Liver
2	chr3:90320600-90323000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr3:90320800-90325600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:90321000-90321200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:90321000-90321200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:90321000-90321200	ZNF genes & repeats	Brain Angular Gyrus	brain
7	chr3:90321000-90321200	ZNF genes & repeats	Fetal Lung	lung
8	chr3:90321000-90324000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr3:90322000-90323800	ZNF genes & repeats	Dnd41	blood
10	chr3:90322200-90322600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:90322200-90322800	ZNF genes & repeats	Brain Anterior Caudate	brain
12	chr3:90322200-90323200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr3:90323600-90324000	ZNF genes & repeats	Psoas Muscle	Psoas
14	chr3:90325800-90326400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr3:90330400-90332200	Enhancers	Dnd41	blood
16	chr3:90330600-90332000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:90331200-90333600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr3:90332800-90333400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:90333400-90333600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:90336000-90338000	ZNF genes & repeats	Liver	Liver
21	chr3:90336800-90338000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr3:90337600-90338000	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr3:90337800-90342800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:90339800-90340600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr3:90340000-90342600	ZNF genes & repeats	Liver	Liver
26	chr3:90340400-90340600	ZNF genes & repeats	Dnd41	blood
27	chr3:90341400-90345200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:90341800-90343000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr3:90342000-90342800	Active TSS	Right Atrium	heart
30	chr3:90342400-90342800	Active TSS	Aorta	Aorta
31	chr3:90342800-90345200	Weak transcription	Right Atrium	heart
32	chr3:90343800-90347400	Enhancers	Dnd41	blood
33	chr3:90344800-90346400	Weak transcription	Psoas Muscle	Psoas
34	chr3:90345200-90345400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:90345200-90345600	Active TSS	Right Atrium	heart
36	chr3:90346400-90347200	Active TSS	Psoas Muscle	Psoas
37	chr3:90347400-90347600	Weak transcription	Dnd41	blood
38	chr3:90347600-90348800	ZNF genes & repeats	Dnd41	blood
39	chr3:90349800-90350600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr3:90350000-90350400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr3:90350000-90350400	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr3:90350000-90350400	Active TSS	Aorta	Aorta
43	chr3:90350200-90350400	ZNF genes & repeats	Primary T cells from cord blood	blood
44	chr3:90350200-90350600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:90351400-90352400	Enhancers	Dnd41	blood
46	chr3:90354000-90355800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr3:90354200-90355800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:90354400-90354800	ZNF genes & repeats	HUVEC	blood vessel
49	chr3:90354600-90354800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
50	chr3:90354600-90354800	Enhancers	Hela-S3	cervix

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