Variant report

Variant	esv2830127
Chromosome Location	chr3:90381087-90400831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1232 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1232 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9872170	chr3:90381087-90381088	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547027478	chr3:90381089-90381090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574315507	chr3:90381097-90381098	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539203101	chr3:90381103-90381104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559227165	chr3:90381104-90381105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114794959	chr3:90381111-90381112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78186069	chr3:90381118-90381119	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556671643	chr3:90381119-90381120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185029816	chr3:90381164-90381165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543220339	chr3:90381174-90381175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145560639	chr3:90381175-90381176	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553003953	chr3:90381188-90381189	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563042336	chr3:90381200-90381201	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572618009	chr3:90381207-90381208	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112180152	chr3:90381211-90381212	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544783435	chr3:90381215-90381216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564786294	chr3:90381225-90381226	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189876721	chr3:90381246-90381247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72621764	chr3:90381255-90381256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141042569	chr3:90381261-90381262	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181087056	chr3:90381264-90381265	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561032366	chr3:90381270-90381271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530080261	chr3:90381272-90381273	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77728965	chr3:90381287-90381288	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546695726	chr3:90381296-90381297	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200251481	chr3:90381307-90381308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74210892	chr3:90381308-90381309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74185807	chr3:90381312-90381313	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71251385	chr3:90381313-90381314	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71238843	chr3:90381317-90381318	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74214134	chr3:90381325-90381326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201152890	chr3:90381329-90381330	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74875041	chr3:90381336-90381337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560555212	chr3:90381337-90381338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71251386	chr3:90381340-90381341	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74218001	chr3:90381344-90381345	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149765821	chr3:90381346-90381347	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201837594	chr3:90381349-90381350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74222906	chr3:90381357-90381358	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569510079	chr3:90381361-90381362	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553544290	chr3:90381363-90381364	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74210399	chr3:90381368-90381369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538064475	chr3:90381369-90381370	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565686679	chr3:90381378-90381379	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536095740	chr3:90381382-90381383	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145726218	chr3:90381388-90381389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554958331	chr3:90381393-90381394	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576325561	chr3:90381398-90381399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111574952	chr3:90381417-90381418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs143735110	chr3:90381418-90381419	ZNF genes & repeats	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90376200-90382800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr3:90377800-90381400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:90380600-90382400	ZNF genes & repeats	Dnd41	blood
4	chr3:90381400-90383000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr3:90381600-90383000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:90382400-90382600	ZNF genes & repeats	Colonic Mucosa	Colon
7	chr3:90389800-90398200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr3:90390400-90399600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:90392600-90392800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr3:90393000-90396800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:90393400-90394000	ZNF genes & repeats	HUVEC	blood vessel
12	chr3:90394000-90395600	Weak transcription	HUVEC	blood vessel
13	chr3:90395200-90396800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr3:90395200-90397800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr3:90395400-90397600	ZNF genes & repeats	HepG2	liver
16	chr3:90395600-90395800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:90395600-90395800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
18	chr3:90395600-90395800	ZNF genes & repeats	Dnd41	blood
19	chr3:90395600-90395800	ZNF genes & repeats	GM12878-XiMat	blood
20	chr3:90395600-90395800	Flanking Bivalent TSS/Enh	Hela-S3	cervix
21	chr3:90395600-90395800	ZNF genes & repeats	HMEC	breast
22	chr3:90395600-90395800	ZNF genes & repeats	HSMM	muscle
23	chr3:90395600-90395800	ZNF genes & repeats	HSMMtube	muscle
24	chr3:90395600-90395800	ZNF genes & repeats	HUVEC	blood vessel
25	chr3:90395600-90395800	ZNF genes & repeats	K562	blood
26	chr3:90395600-90395800	ZNF genes & repeats	NH-A	brain
27	chr3:90395600-90395800	ZNF genes & repeats	NHDF-Ad	bronchial
28	chr3:90395600-90395800	ZNF genes & repeats	NHEK	skin
29	chr3:90395600-90395800	ZNF genes & repeats	NHLF	lung
30	chr3:90395600-90395800	ZNF genes & repeats	Osteobl	bone
31	chr3:90395600-90396400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
32	chr3:90395800-90396400	Weak transcription	NH-A	brain
33	chr3:90395800-90400400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:90395800-90402400	Weak transcription	K562	blood
35	chr3:90400400-90400600	ZNF genes & repeats	HUVEC	blood vessel

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