Variant report

Variant	esv1793875
Chromosome Location	chr9:115824043-115852353
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548202441	chr9:115824047-115824048	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528965966	chr9:115824057-115824058	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371140746	chr9:115824059-115824060	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373864441	chr9:115824084-115824085	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28546727	chr9:115824095-115824096	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370393789	chr9:115824131-115824132	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375609505	chr9:115824144-115824145	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187875489	chr9:115824158-115824159	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117931961	chr9:115824171-115824172	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566219620	chr9:115824199-115824200	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62574437	chr9:115824272-115824273	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs28620983	chr9:115824277-115824278	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs534905094	chr9:115824339-115824340	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs368265732	chr9:115824349-115824350	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs71922676	chr9:115824350-115824351	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs3033199	chr9:115824368-115824369	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs199717628	chr9:115824370-115824371	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs200260883	chr9:115824372-115824373	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs28476739	chr9:115824375-115824376	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs28694167	chr9:115824384-115824385	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs571830474	chr9:115824398-115824399	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs28681191	chr9:115824399-115824400	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs537073048	chr9:115824400-115824401	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs368231607	chr9:115824411-115824412	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs556905349	chr9:115824412-115824413	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs573812104	chr9:115824496-115824497	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs542670212	chr9:115824561-115824562	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs372410371	chr9:115824637-115824638	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs555274559	chr9:115824673-115824674	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs572246775	chr9:115824689-115824690	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs28723522	chr9:115824699-115824700	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs141837197	chr9:115824704-115824705	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs367858700	chr9:115824713-115824714	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs28481889	chr9:115824720-115824721	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs540854195	chr9:115824741-115824742	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs28507298	chr9:115824764-115824765	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs564434086	chr9:115824765-115824766	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs3916292	chr9:115824768-115824769	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs533236031	chr9:115824783-115824784	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs543461014	chr9:115824791-115824792	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs563237876	chr9:115824800-115824801	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs62574439	chr9:115824808-115824809	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs373557713	chr9:115824809-115824810	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs527897496	chr9:115824824-115824825	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs1815419	chr9:115824836-115824837	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs528717627	chr9:115824882-115824883	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs551658234	chr9:115824887-115824888	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs62574440	chr9:115824942-115824943	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537312978	chr9:115824955-115824956	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs373546497	chr9:115824959-115824960	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:44 , 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	chr9:115823600-115824400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:115823600-115824400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:115823600-115824400	Bivalent Enhancer	Fetal Brain Male	brain
9	chr9:115823600-115825600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:115823600-115825600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
11	chr9:115823600-115825600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:115823600-115825600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:115823800-115824200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:115823800-115824200	Bivalent Enhancer	Brain Germinal Matrix	brain
15	chr9:115824000-115824200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr9:115824000-115824200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr9:115824000-115824200	Enhancers	Right Ventricle	heart
18	chr9:115824200-115824400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:115824200-115824600	ZNF genes & repeats	Colonic Mucosa	Colon
20	chr9:115824600-115825600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
21	chr9:115824600-115825600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr9:115824600-115825800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:115825200-115825400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
24	chr9:115825200-115825400	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:115825200-115825400	Bivalent Enhancer	Esophagus	oesophagus
26	chr9:115825200-115825400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
27	chr9:115825200-115825600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:115825200-115825600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
29	chr9:115825400-115825600	ZNF genes & repeats	Brain Hippocampus Middle	brain
30	chr9:115825400-115825600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
31	chr9:115825400-115825600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
32	chr9:115851000-115851200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr9:115851000-115851400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
34	chr9:115851000-115851400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr9:115851200-115851400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:115851200-115851400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:115851200-115851400	Bivalent Enhancer	Fetal Stomach	stomach
38	chr9:115851200-115851400	Bivalent Enhancer	Ovary	ovary
39	chr9:115851200-115851400	Enhancers	Pancreas	Pancrea
40	chr9:115851200-115851400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
41	chr9:115851400-115852200	Weak transcription	Pancreas	Pancrea
42	chr9:115852200-115852400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:115852200-115852800	ZNF genes & repeats	Pancreas	Pancrea
44	chr9:115852200-115853000	ZNF genes & repeats	Spleen	Spleen

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