Variant report

Variant	esv3339519
Chromosome Location	chr9:98512656-98515504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:98498306..98500300-chr9:98515480..98517828,2	K562	blood:

Extended variants
information (count: 164 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374908002	chr9:98512658-98512659	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568023295	chr9:98512680-98512681	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112384656	chr9:98512703-98512704	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10122205	chr9:98512721-98512722	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534207850	chr9:98512731-98512732	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73656528	chr9:98512767-98512768	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574144679	chr9:98512769-98512770	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538000786	chr9:98512770-98512771	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556346397	chr9:98512797-98512798	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577281379	chr9:98512799-98512800	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544722854	chr9:98512801-98512802	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186938536	chr9:98512811-98512812	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76357920	chr9:98512857-98512858	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542546722	chr9:98512866-98512867	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1865419	chr9:98512873-98512874	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs78404142	chr9:98512901-98512902	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192476009	chr9:98512905-98512906	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565091559	chr9:98512933-98512934	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182831754	chr9:98512936-98512937	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1865420	chr9:98512939-98512940	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566738950	chr9:98512944-98512945	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142098159	chr9:98512953-98512954	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575128370	chr9:98512969-98512970	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549110317	chr9:98513002-98513003	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567906026	chr9:98513022-98513023	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10122291	chr9:98513030-98513031	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs460635	chr9:98513035-98513036	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62558977	chr9:98513036-98513037	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552995148	chr9:98513079-98513080	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577844430	chr9:98513121-98513122	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187438944	chr9:98513126-98513127	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553872244	chr9:98513134-98513135	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571942210	chr9:98513143-98513144	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115028923	chr9:98513169-98513170	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554277817	chr9:98513196-98513197	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576371162	chr9:98513197-98513198	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10600977	chr9:98513206-98513207	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs528025145	chr9:98513208-98513209	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs200705437	chr9:98513209-98513210	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs543762515	chr9:98513215-98513216	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs368933521	chr9:98513225-98513226	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs564369157	chr9:98513227-98513228	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs530590078	chr9:98513246-98513247	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs550751712	chr9:98513247-98513248	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs573054874	chr9:98513275-98513276	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs540065629	chr9:98513306-98513307	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs545511433	chr9:98513317-98513318	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs75732609	chr9:98513319-98513320	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs527790047	chr9:98513344-98513345	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs375866935	chr9:98513374-98513375	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	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
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Pancreatic cancer	17952125	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98510400-98514200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:98511600-98513200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr9:98511600-98514000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr9:98511800-98513200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr9:98511800-98513200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:98511800-98513200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr9:98511800-98513600	Enhancers	Fetal Thymus	thymus
8	chr9:98511800-98514000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr9:98511800-98514000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr9:98511800-98514000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr9:98512000-98513000	Enhancers	Primary T cells from cord blood	blood
12	chr9:98512000-98513000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr9:98512000-98514200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:98512200-98513800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr9:98512200-98515800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr9:98512400-98513000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr9:98512400-98513600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr9:98512400-98513800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:98512600-98512800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr9:98512600-98512800	Enhancers	Colonic Mucosa	Colon
21	chr9:98512600-98513000	Enhancers	HepG2	liver
22	chr9:98512600-98513600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr9:98512600-98513600	Enhancers	GM12878-XiMat	blood
24	chr9:98512800-98513600	Enhancers	Dnd41	blood
25	chr9:98513000-98513200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:98513000-98513200	Weak transcription	HepG2	liver
27	chr9:98513000-98513400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr9:98513000-98513600	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr9:98513000-98513600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr9:98513000-98513600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:98513200-98513400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr9:98513200-98513400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr9:98513200-98513400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:98513200-98513400	Enhancers	HepG2	liver
35	chr9:98513200-98513600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr9:98513200-98513600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr9:98513200-98513600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr9:98513400-98513600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr9:98513400-98513600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr9:98513400-98513600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr9:98513400-98513600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr9:98513400-98513600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr9:98513400-98513600	Enhancers	Duodenum Mucosa	Duodenum
44	chr9:98513400-98513800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr9:98513400-98515600	Weak transcription	HepG2	liver
46	chr9:98513600-98513800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr9:98513600-98514000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr9:98513600-98514400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr9:98513600-98514800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr9:98513600-98516400	Weak transcription	Duodenum Mucosa	Duodenum

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