Variant report

Variant	esv3450970
Chromosome Location	chr9:14631802-14633750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541077185	chr9:14631802-14631803	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530757410	chr9:14631805-14631806	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2382492	chr9:14631836-14631837	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs545487445	chr9:14631838-14631839	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142755911	chr9:14631851-14631852	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368400367	chr9:14631865-14631866	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549172005	chr9:14631867-14631868	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150619538	chr9:14631900-14631901	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534757311	chr9:14631917-14631918	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192899428	chr9:14631986-14631987	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140063028	chr9:14632005-14632006	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536232789	chr9:14632006-14632007	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537024847	chr9:14632012-14632013	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546283172	chr9:14632029-14632030	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529432720	chr9:14632052-14632053	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62532731	chr9:14632054-14632055	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3081747	chr9:14632062-14632063	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372287463	chr9:14632063-14632064	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576691235	chr9:14632083-14632084	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34463203	chr9:14632088-14632089	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535732282	chr9:14632089-14632090	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185096835	chr9:14632100-14632101	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572300328	chr9:14632112-14632113	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541167389	chr9:14632126-14632127	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62532732	chr9:14632174-14632175	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373159833	chr9:14632205-14632206	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs12553348	chr9:14632244-14632245	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs189130422	chr9:14632267-14632268	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs571486075	chr9:14632279-14632280	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112908302	chr9:14632281-14632282	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs563495388	chr9:14632282-14632283	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs140365202	chr9:14632306-14632307	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs561614055	chr9:14632417-14632418	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs557419502	chr9:14632419-14632420	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs75932934	chr9:14632433-14632434	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs149931736	chr9:14632444-14632445	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs559540787	chr9:14632457-14632458	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs116547022	chr9:14632458-14632459	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542959173	chr9:14632483-14632484	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs13283520	chr9:14632530-14632531	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs377347084	chr9:14632538-14632539	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201336288	chr9:14632540-14632541	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs199793821	chr9:14632541-14632542	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs200858375	chr9:14632542-14632543	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs567103481	chr9:14632676-14632677	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs374238499	chr9:14632691-14632692	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs201723528	chr9:14632693-14632694	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs536188347	chr9:14632706-14632707	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs10120026	chr9:14632737-14632738	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs36152346	chr9:14632741-14632742	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14594800-14633400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr9:14595600-14653600	Weak transcription	NHDF-Ad	bronchial
3	chr9:14596600-14634000	Weak transcription	Gastric	stomach
4	chr9:14596600-14653600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:14597000-14655000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr9:14597800-14633600	Weak transcription	Pancreas	Pancrea
7	chr9:14598200-14633200	Weak transcription	Fetal Stomach	stomach
8	chr9:14599800-14654000	Weak transcription	Fetal Heart	heart
9	chr9:14601400-14636800	Weak transcription	Small Intestine	intestine
10	chr9:14605600-14654800	Weak transcription	HSMM	muscle
11	chr9:14605800-14634000	Weak transcription	Esophagus	oesophagus
12	chr9:14610200-14654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:14611200-14632800	Weak transcription	Placenta	Placenta
14	chr9:14612800-14641200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr9:14613600-14654600	Weak transcription	Fetal Kidney	kidney
16	chr9:14617200-14634000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr9:14617200-14646000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:14617400-14634200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr9:14619400-14633200	Weak transcription	Lung	lung
20	chr9:14619400-14653600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:14619400-14654800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:14619600-14654800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:14626400-14638600	Weak transcription	HUVEC	blood vessel
24	chr9:14626800-14655000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr9:14627600-14632800	Weak transcription	Brain Angular Gyrus	brain
26	chr9:14627800-14633200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:14627800-14643400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:14628000-14639400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr9:14628000-14640800	Weak transcription	Colon Smooth Muscle	Colon
30	chr9:14629200-14634000	Weak transcription	Dnd41	blood
31	chr9:14629200-14636400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr9:14629400-14635800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:14629400-14637600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr9:14629400-14654600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr9:14629400-14655000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr9:14629800-14632000	Strong transcription	Primary T cells from cord blood	blood
37	chr9:14629800-14633600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:14630000-14632200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:14630000-14633200	Strong transcription	Primary hematopoietic stem cells	blood
40	chr9:14630000-14633400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr9:14630000-14654400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr9:14630200-14632000	Strong transcription	Fetal Intestine Large	intestine
43	chr9:14630200-14637400	Strong transcription	Primary B cells from cord blood	blood
44	chr9:14630400-14633200	ZNF genes & repeats	Fetal Brain Female	brain
45	chr9:14630400-14654800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr9:14630600-14632600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr9:14630600-14633400	Strong transcription	Fetal Lung	lung
48	chr9:14630600-14635600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:14631000-14654000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:14631000-14654800	Weak transcription	Brain Anterior Caudate	brain

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