Variant report

Variant	esv3356617
Chromosome Location	chr3:90486462-90490760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:121484528..121485413-chr3:90489067..90489568,2	MCF-7	breast:
2	chr1:121484711..121485425-chr3:90489048..90489568,2	MCF-7	breast:
3	chr19:27739276..27740188-chr3:90489068..90489568,2	MCF-7	breast:
4	chr1:121484865..121485406-chr3:90489067..90489568,3	MCF-7	breast:
5	chr1:121483910..121484775-chr3:90489048..90489568,4	MCF-7	breast:
6	chr1:121482979..121485417-chr3:90488047..90489568,4	MCF-7	breast:

Extended variants
information (count: 552 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370194639	chr3:90486506-90486507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577755725	chr3:90486508-90486509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543468971	chr3:90486509-90486510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563541798	chr3:90486511-90486512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201928824	chr3:90486517-90486518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535470957	chr3:90486541-90486542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573865245	chr3:90486549-90486550	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542969766	chr3:90486555-90486556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375215508	chr3:90486564-90486565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560031484	chr3:90486570-90486571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528761558	chr3:90486584-90486585	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116377653	chr3:90486585-90486586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80064061	chr3:90486592-90486593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201362932	chr3:90486610-90486611	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202123938	chr3:90486623-90486624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533070885	chr3:90486624-90486625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549855495	chr3:90486625-90486626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556704353	chr3:90486642-90486643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141893030	chr3:90486644-90486645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374444969	chr3:90486662-90486663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200281226	chr3:90486664-90486665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548882121	chr3:90486667-90486668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566011066	chr3:90486729-90486730	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534602201	chr3:90486750-90486751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545583696	chr3:90486780-90486781	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557737165	chr3:90486789-90486790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557829697	chr3:90486799-90486800	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112124141	chr3:90486802-90486803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571258903	chr3:90486808-90486809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183578688	chr3:90486818-90486819	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189705724	chr3:90486820-90486821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556998936	chr3:90486845-90486846	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572740020	chr3:90486851-90486852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368908881	chr3:90486869-90486870	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373219572	chr3:90486872-90486873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377759328	chr3:90486873-90486874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371289803	chr3:90486879-90486880	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371946812	chr3:90486881-90486882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373294552	chr3:90486885-90486886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377374952	chr3:90486886-90486887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370698313	chr3:90486887-90486888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374922024	chr3:90486888-90486889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376438480	chr3:90486890-90486891	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370297933	chr3:90486909-90486910	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574037527	chr3:90486918-90486919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201368716	chr3:90486922-90486923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112682154	chr3:90486935-90486936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367544722	chr3:90486937-90486938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372283983	chr3:90486940-90486941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112576084	chr3:90486942-90486943	ZNF genes & repeats Weak transcription	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
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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90478000-90486600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:90478000-90489400	Weak transcription	K562	blood
3	chr3:90479600-90494600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:90486000-90488200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:90486200-90491800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr3:90486400-90488200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr3:90486400-90488400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr3:90486400-90490600	Weak transcription	Right Ventricle	heart
9	chr3:90486600-90487200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:90486600-90504600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr3:90486800-90488000	ZNF genes & repeats	Liver	Liver
12	chr3:90487000-90487200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr3:90487600-90505000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr3:90487800-90488000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
15	chr3:90487800-90488000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
16	chr3:90487800-90488000	ZNF genes & repeats	NH-A	brain
17	chr3:90488000-90489600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:90488000-90490600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:90488000-90490600	Weak transcription	Brain Angular Gyrus	brain
20	chr3:90488000-90490600	Weak transcription	NH-A	brain
21	chr3:90488400-90489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:90489200-90493400	ZNF genes & repeats	Primary T cells from cord blood	blood
23	chr3:90489400-90489600	ZNF genes & repeats	K562	blood
24	chr3:90489400-90491200	ZNF genes & repeats	HUVEC	blood vessel
25	chr3:90489600-90490600	Weak transcription	K562	blood
26	chr3:90489800-90490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:90490000-90491000	ZNF genes & repeats	Fetal Heart	heart
28	chr3:90490400-90490600	Weak transcription	HSMMtube	muscle
29	chr3:90490400-90491000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:90490600-90490800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:90490600-90490800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
32	chr3:90490600-90490800	ZNF genes & repeats	Fetal Lung	lung
33	chr3:90490600-90490800	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr3:90490600-90490800	ZNF genes & repeats	Placenta	Placenta
35	chr3:90490600-90490800	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
36	chr3:90490600-90490800	ZNF genes & repeats	Hela-S3	cervix
37	chr3:90490600-90491000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr3:90490600-90491000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:90490600-90491000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr3:90490600-90491000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
41	chr3:90490600-90491000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:90490600-90491000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:90490600-90491000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:90490600-90491000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:90490600-90491000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:90490600-90491000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
47	chr3:90490600-90491000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
48	chr3:90490600-90491000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
49	chr3:90490600-90491000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
50	chr3:90490600-90491000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--

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