Variant report

Variant	esv3361992
Chromosome Location	chr3:90464879-90467124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 332 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115519284	chr3:90464884-90464885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117236012	chr3:90464886-90464887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189202133	chr3:90464899-90464900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200605164	chr3:90464906-90464907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182059642	chr3:90464909-90464910	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559587617	chr3:90464912-90464913	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573411812	chr3:90464913-90464914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145383405	chr3:90464924-90464925	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117764271	chr3:90464933-90464934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545254040	chr3:90464943-90464944	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201769587	chr3:90464960-90464961	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62268517	chr3:90464961-90464962	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185873856	chr3:90464966-90464967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565585924	chr3:90464967-90464968	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62268518	chr3:90464969-90464970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531080000	chr3:90464974-90464975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549367124	chr3:90464978-90464979	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562906823	chr3:90464986-90464987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370501441	chr3:90464988-90464989	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373684206	chr3:90464990-90464991	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190398480	chr3:90464992-90464993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139661409	chr3:90464993-90464994	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200890955	chr3:90464999-90465000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370275500	chr3:90465002-90465003	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201883429	chr3:90465014-90465015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180716408	chr3:90465017-90465018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113935670	chr3:90465019-90465020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565619518	chr3:90465022-90465023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200201886	chr3:90465025-90465026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113191939	chr3:90465026-90465027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190003614	chr3:90465029-90465030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111788076	chr3:90465038-90465039	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181295569	chr3:90465040-90465041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201401711	chr3:90465044-90465045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534853568	chr3:90465047-90465048	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185815015	chr3:90465048-90465049	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551253534	chr3:90465061-90465062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571587332	chr3:90465070-90465071	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537301252	chr3:90465083-90465084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151139323	chr3:90465085-90465086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145118819	chr3:90465088-90465089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139150147	chr3:90465093-90465094	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200530492	chr3:90465107-90465108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201602498	chr3:90465113-90465114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149321752	chr3:90465119-90465120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192059946	chr3:90465123-90465124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574128091	chr3:90465138-90465139	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146444457	chr3:90465139-90465140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570920771	chr3:90465145-90465146	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199509187	chr3:90465148-90465149	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90456200-90465600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr3:90456200-90467800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr3:90456200-90468200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:90456200-90468200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr3:90461800-90466200	ZNF genes & repeats	HUVEC	blood vessel
6	chr3:90462200-90465600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr3:90462400-90466600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr3:90462600-90466000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:90462600-90467800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr3:90463600-90465600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr3:90463800-90467600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr3:90463800-90467800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:90464000-90465600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:90464000-90465600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:90464000-90465600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr3:90464000-90465600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
17	chr3:90464000-90465600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:90464000-90466000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:90464000-90466200	ZNF genes & repeats	Left Ventricle	heart
20	chr3:90464000-90466200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr3:90464000-90466400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr3:90464000-90467800	ZNF genes & repeats	Fetal Brain Male	brain
23	chr3:90464400-90465200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr3:90464400-90465200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:90464400-90465400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:90464400-90465400	Weak transcription	Aorta	Aorta
27	chr3:90464400-90466000	Weak transcription	NHEK	skin
28	chr3:90464400-90471400	Weak transcription	K562	blood
29	chr3:90464600-90465400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr3:90464600-90465400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:90464600-90465400	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:90464600-90465400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:90465200-90465600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
34	chr3:90465200-90465600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:90465200-90466200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:90465400-90465600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:90465400-90465600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:90465400-90465600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
39	chr3:90465400-90465600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
40	chr3:90465400-90465600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:90465400-90465600	Flanking Active TSS	Aorta	Aorta
42	chr3:90465400-90465600	ZNF genes & repeats	Liver	Liver
43	chr3:90465400-90465600	ZNF genes & repeats	Brain Hippocampus Middle	brain
44	chr3:90465400-90465600	ZNF genes & repeats	Colonic Mucosa	Colon
45	chr3:90465400-90465600	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr3:90465400-90465600	Enhancers	Thymus	Thymus
47	chr3:90465400-90466000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
48	chr3:90465400-90466200	ZNF genes & repeats	Dnd41	blood
49	chr3:90465400-90467800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr3:90465600-90466000	Active TSS	Aorta	Aorta

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