Variant report

Variant	esv3374706
Chromosome Location	chr3:90426362-90430660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 434 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200464328	chr3:90426400-90426401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs566002419	chr3:90426401-90426402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201452955	chr3:90426416-90426417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs373976317	chr3:90426429-90426430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs563003601	chr3:90426430-90426431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200041045	chr3:90426431-90426432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs376689119	chr3:90426433-90426434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs371214743	chr3:90426451-90426452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs560555780	chr3:90426453-90426454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs558167778	chr3:90426469-90426470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs578028946	chr3:90426470-90426471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs543945051	chr3:90426478-90426479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs557180120	chr3:90426484-90426485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs573857273	chr3:90426508-90426509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs542831632	chr3:90426509-90426510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs372639522	chr3:90426528-90426529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs528791076	chr3:90426531-90426532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188303246	chr3:90426533-90426534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs191492769	chr3:90426552-90426553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs532791660	chr3:90426554-90426555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs549806058	chr3:90426574-90426575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs78444596	chr3:90426589-90426590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs377102489	chr3:90426590-90426591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs551318904	chr3:90426604-90426605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs80174184	chr3:90426612-90426613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549227898	chr3:90426640-90426641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs565966031	chr3:90426656-90426657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs534958636	chr3:90426665-90426666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs113445534	chr3:90426702-90426703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs113287376	chr3:90426709-90426710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557865029	chr3:90426712-90426713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs571572001	chr3:90426716-90426717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs527238945	chr3:90426717-90426718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs537062472	chr3:90426729-90426730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs182892379	chr3:90426731-90426732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs557395254	chr3:90426748-90426749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs573822087	chr3:90426760-90426761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs536429916	chr3:90426796-90426797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs553188737	chr3:90426798-90426799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs183802906	chr3:90426800-90426801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs527451849	chr3:90426803-90426804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs145110329	chr3:90426810-90426811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565448387	chr3:90426811-90426812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs187562819	chr3:90426822-90426823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs577531154	chr3:90426832-90426833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs548878168	chr3:90426858-90426859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188128152	chr3:90426881-90426882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs563351666	chr3:90426882-90426883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs529033293	chr3:90426892-90426893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs549191000	chr3:90426905-90426906	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:72 , 50 per page) page: 1 2

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	chr3:90428000-90429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:90429600-90430000	Weak transcription	K562	blood
6	chr3:90429600-90430200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:90429600-90430400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr3:90429600-90430600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr3:90429800-90430000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr3:90429800-90430000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:90429800-90430000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:90429800-90430000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
13	chr3:90429800-90430000	ZNF genes & repeats	Brain Hippocampus Middle	brain
14	chr3:90429800-90430000	ZNF genes & repeats	Fetal Brain Male	brain
15	chr3:90429800-90430000	Bivalent Enhancer	Gastric	stomach
16	chr3:90429800-90430000	ZNF genes & repeats	HepG2	liver
17	chr3:90429800-90430000	ZNF genes & repeats	HSMMtube	muscle
18	chr3:90429800-90430200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr3:90429800-90430200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
20	chr3:90429800-90430200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:90429800-90430200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:90429800-90430200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:90429800-90430200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:90429800-90430200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr3:90429800-90430200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:90429800-90430200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
27	chr3:90429800-90430200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
28	chr3:90429800-90430200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:90429800-90430200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:90429800-90430200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
31	chr3:90429800-90430200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr3:90429800-90430200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:90429800-90430200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
34	chr3:90429800-90430200	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
35	chr3:90429800-90430200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:90429800-90430200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:90429800-90430200	ZNF genes & repeats	Aorta	Aorta
38	chr3:90429800-90430200	ZNF genes & repeats	Brain Anterior Caudate	brain
39	chr3:90429800-90430200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
40	chr3:90429800-90430200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:90429800-90430200	ZNF genes & repeats	Colonic Mucosa	Colon
42	chr3:90429800-90430200	ZNF genes & repeats	Colon Smooth Muscle	Colon
43	chr3:90429800-90430200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr3:90429800-90430200	ZNF genes & repeats	Fetal Heart	heart
45	chr3:90429800-90430200	ZNF genes & repeats	Fetal Kidney	kidney
46	chr3:90429800-90430200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
47	chr3:90429800-90430200	ZNF genes & repeats	Fetal Lung	lung
48	chr3:90429800-90430200	ZNF genes & repeats	Left Ventricle	heart
49	chr3:90429800-90430200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
50	chr3:90429800-90430200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum

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