Variant report

Variant	esv3352053
Chromosome Location	chr9:115824631-115835929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372410371	chr9:115824637-115824638	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs555274559	chr9:115824673-115824674	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs572246775	chr9:115824689-115824690	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs28723522	chr9:115824699-115824700	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs141837197	chr9:115824704-115824705	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs367858700	chr9:115824713-115824714	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs28481889	chr9:115824720-115824721	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs540854195	chr9:115824741-115824742	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs28507298	chr9:115824764-115824765	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs564434086	chr9:115824765-115824766	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs3916292	chr9:115824768-115824769	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs533236031	chr9:115824783-115824784	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs543461014	chr9:115824791-115824792	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs563237876	chr9:115824800-115824801	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs62574439	chr9:115824808-115824809	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373557713	chr9:115824809-115824810	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs527897496	chr9:115824824-115824825	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs1815419	chr9:115824836-115824837	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs528717627	chr9:115824882-115824883	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs551658234	chr9:115824887-115824888	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs62574440	chr9:115824942-115824943	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537312978	chr9:115824955-115824956	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs373546497	chr9:115824959-115824960	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs199571979	chr9:115824968-115824969	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs370978665	chr9:115824990-115824991	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs556945855	chr9:115824994-115824995	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs3897262	chr9:115824996-115824997	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs180958809	chr9:115825008-115825009	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs536241359	chr9:115825024-115825025	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs141814359	chr9:115825042-115825043	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs184588097	chr9:115825047-115825048	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs573235802	chr9:115825048-115825049	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs28439194	chr9:115825054-115825055	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs373970958	chr9:115825070-115825071	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs557633552	chr9:115825082-115825083	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs28639951	chr9:115825084-115825085	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs150642788	chr9:115825087-115825088	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs543697593	chr9:115825089-115825090	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs371142343	chr9:115825094-115825095	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs563573267	chr9:115825097-115825098	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs139739012	chr9:115825099-115825100	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs62574441	chr9:115825123-115825124	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs144843968	chr9:115825131-115825132	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs559424565	chr9:115825138-115825139	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs28697880	chr9:115825143-115825144	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs58320914	chr9:115825156-115825157	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs551965105	chr9:115825157-115825158	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs189232704	chr9:115825158-115825159	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs1961123	chr9:115825161-115825162	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs28510461	chr9:115825285-115825286	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115823400-115825400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr9:115823400-115825600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr9:115823400-115825600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
4	chr9:115823400-115825600	ZNF genes & repeats	Lung	lung
5	chr9:115823400-115825800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:115823600-115825600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:115823600-115825600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
8	chr9:115823600-115825600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:115823600-115825600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:115824600-115825600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
11	chr9:115824600-115825600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr9:115824600-115825800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:115825200-115825400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:115825200-115825400	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:115825200-115825400	Bivalent Enhancer	Esophagus	oesophagus
16	chr9:115825200-115825400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
17	chr9:115825200-115825600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:115825200-115825600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr9:115825400-115825600	ZNF genes & repeats	Brain Hippocampus Middle	brain
20	chr9:115825400-115825600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
21	chr9:115825400-115825600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum

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