Variant report

Variant	esv3506859
Chromosome Location	chr9:98513056-98515529
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: 137 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552995148	chr9:98513079-98513080	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577844430	chr9:98513121-98513122	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187438944	chr9:98513126-98513127	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553872244	chr9:98513134-98513135	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571942210	chr9:98513143-98513144	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115028923	chr9:98513169-98513170	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554277817	chr9:98513196-98513197	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576371162	chr9:98513197-98513198	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10600977	chr9:98513206-98513207	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs528025145	chr9:98513208-98513209	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs200705437	chr9:98513209-98513210	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs543762515	chr9:98513215-98513216	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs368933521	chr9:98513225-98513226	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs564369157	chr9:98513227-98513228	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs530590078	chr9:98513246-98513247	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs550751712	chr9:98513247-98513248	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs573054874	chr9:98513275-98513276	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs540065629	chr9:98513306-98513307	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs545511433	chr9:98513317-98513318	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs75732609	chr9:98513319-98513320	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs527790047	chr9:98513344-98513345	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs375866935	chr9:98513374-98513375	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs193261319	chr9:98513437-98513438	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs570612519	chr9:98513454-98513455	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs531860330	chr9:98513462-98513463	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs377222238	chr9:98513472-98513473	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs550094724	chr9:98513493-98513494	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs7035926	chr9:98513508-98513509	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146698473	chr9:98513520-98513521	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs78477832	chr9:98513526-98513527	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs565729908	chr9:98513548-98513549	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs116602358	chr9:98513562-98513563	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs139622385	chr9:98513597-98513598	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs554521799	chr9:98513599-98513600	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs73656529	chr9:98513625-98513626	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs543728293	chr9:98513663-98513664	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11788364	chr9:98513665-98513666	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs817154	chr9:98513666-98513667	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200330609	chr9:98513728-98513729	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185420914	chr9:98513763-98513764	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200947708	chr9:98513766-98513767	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145241216	chr9:98513782-98513783	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113888339	chr9:98513789-98513790	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189156319	chr9:98513813-98513814	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192074670	chr9:98513824-98513825	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113210010	chr9:98513827-98513828	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147217395	chr9:98513838-98513839	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111216726	chr9:98513878-98513879	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111216760	chr9:98513891-98513892	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559298429	chr9:98513901-98513902	Weak transcription Bivalent Enhancer Enhancers	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:157 , 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	chr9:98512000-98514200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:98512200-98513800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr9:98512200-98515800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:98512400-98513600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr9:98512400-98513800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:98512600-98513600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr9:98512600-98513600	Enhancers	GM12878-XiMat	blood
18	chr9:98512800-98513600	Enhancers	Dnd41	blood
19	chr9:98513000-98513200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:98513000-98513200	Weak transcription	HepG2	liver
21	chr9:98513000-98513400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr9:98513000-98513600	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr9:98513000-98513600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr9:98513000-98513600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:98513200-98513400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr9:98513200-98513400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr9:98513200-98513400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:98513200-98513400	Enhancers	HepG2	liver
29	chr9:98513200-98513600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr9:98513200-98513600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr9:98513200-98513600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr9:98513400-98513600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr9:98513400-98513600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr9:98513400-98513600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr9:98513400-98513600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr9:98513400-98513600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr9:98513400-98513600	Enhancers	Duodenum Mucosa	Duodenum
38	chr9:98513400-98513800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr9:98513400-98515600	Weak transcription	HepG2	liver
40	chr9:98513600-98513800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr9:98513600-98514000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr9:98513600-98514400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr9:98513600-98514800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr9:98513600-98516400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr9:98513800-98514200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr9:98514000-98514400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:98514200-98514400	Bivalent Enhancer	Fetal Stomach	stomach
48	chr9:98514200-98514400	Active TSS	Ovary	ovary
49	chr9:98514200-98514400	Active TSS	Right Atrium	heart
50	chr9:98514200-98514400	Active TSS	Stomach Smooth Muscle	stomach

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