Variant report

Variant	esv6948
Chromosome Location	chr3:90430039-90447987
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1986 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1986 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112267770	chr3:90430040-90430041	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs34618305	chr3:90430044-90430045	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs113132735	chr3:90430045-90430046	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs201826493	chr3:90430067-90430068	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200131518	chr3:90430068-90430069	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs565812558	chr3:90430071-90430072	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535039268	chr3:90430074-90430075	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs201087418	chr3:90430078-90430079	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs571722012	chr3:90430079-90430080	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs62277417	chr3:90430080-90430081	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs537098201	chr3:90430088-90430089	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs140918110	chr3:90430102-90430103	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557029763	chr3:90430115-90430116	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs200032211	chr3:90430153-90430154	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs573933200	chr3:90430163-90430164	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs200959641	chr3:90430168-90430169	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569856169	chr3:90430170-90430171	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs553653398	chr3:90430181-90430182	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs201893909	chr3:90430183-90430184	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs573426617	chr3:90430190-90430191	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541031485	chr3:90430191-90430192	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs200222364	chr3:90430196-90430197	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs113638429	chr3:90430201-90430202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138651831	chr3:90430202-90430203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141603528	chr3:90430205-90430206	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112123184	chr3:90430213-90430214	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140069487	chr3:90430218-90430219	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200505802	chr3:90430220-90430221	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201410763	chr3:90430223-90430224	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140459679	chr3:90430230-90430231	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149533512	chr3:90430234-90430235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147370217	chr3:90430236-90430237	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112852912	chr3:90430241-90430242	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113411973	chr3:90430245-90430246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374030666	chr3:90430263-90430264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563881239	chr3:90430274-90430275	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577709397	chr3:90430314-90430315	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543583098	chr3:90430323-90430324	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199552055	chr3:90430367-90430368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542449155	chr3:90430373-90430374	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377586181	chr3:90430374-90430375	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560728602	chr3:90430398-90430399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184133585	chr3:90430399-90430400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190639019	chr3:90430401-90430402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550066242	chr3:90430413-90430414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565702409	chr3:90430425-90430426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551754145	chr3:90430468-90430469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571351576	chr3:90430469-90430470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530803010	chr3:90430480-90430481	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200836561	chr3:90430503-90430504	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:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90426400-90430600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:90427400-90430400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr3:90427800-90430400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr3:90429600-90430200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:90429600-90430400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr3:90429600-90430600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr3:90429800-90430200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr3:90429800-90430200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
9	chr3:90429800-90430200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:90429800-90430200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:90429800-90430200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:90429800-90430200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:90429800-90430200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr3:90429800-90430200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:90429800-90430200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
16	chr3:90429800-90430200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
17	chr3:90429800-90430200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:90429800-90430200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:90429800-90430200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr3:90429800-90430200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
21	chr3:90429800-90430200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:90429800-90430200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
23	chr3:90429800-90430200	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
24	chr3:90429800-90430200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:90429800-90430200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:90429800-90430200	ZNF genes & repeats	Aorta	Aorta
27	chr3:90429800-90430200	ZNF genes & repeats	Brain Anterior Caudate	brain
28	chr3:90429800-90430200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
29	chr3:90429800-90430200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:90429800-90430200	ZNF genes & repeats	Colonic Mucosa	Colon
31	chr3:90429800-90430200	ZNF genes & repeats	Colon Smooth Muscle	Colon
32	chr3:90429800-90430200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr3:90429800-90430200	ZNF genes & repeats	Fetal Heart	heart
34	chr3:90429800-90430200	ZNF genes & repeats	Fetal Kidney	kidney
35	chr3:90429800-90430200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr3:90429800-90430200	ZNF genes & repeats	Fetal Lung	lung
37	chr3:90429800-90430200	ZNF genes & repeats	Left Ventricle	heart
38	chr3:90429800-90430200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
39	chr3:90429800-90430200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
40	chr3:90429800-90430200	Bivalent/Poised TSS	Right Atrium	heart
41	chr3:90429800-90430200	ZNF genes & repeats	Right Ventricle	heart
42	chr3:90429800-90430200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
43	chr3:90429800-90430200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
44	chr3:90429800-90430200	ZNF genes & repeats	Small Intestine	intestine
45	chr3:90429800-90430200	ZNF genes & repeats	Thymus	Thymus
46	chr3:90429800-90430200	ZNF genes & repeats	HMEC	breast
47	chr3:90429800-90430200	ZNF genes & repeats	HUVEC	blood vessel
48	chr3:90429800-90430200	ZNF genes & repeats	NH-A	brain
49	chr3:90429800-90430200	Active TSS	NHEK	skin
50	chr3:90429800-90430200	ZNF genes & repeats	Osteobl	bone

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