Variant report

Variant	esv2761278
Chromosome Location	chr9:96115678-96126104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 372 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10992711	chr9:96115678-96115679	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560648866	chr9:96115681-96115682	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180840958	chr9:96115690-96115691	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149722805	chr9:96115712-96115713	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543957435	chr9:96115747-96115748	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565456921	chr9:96115788-96115789	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532813942	chr9:96115795-96115796	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145549373	chr9:96115813-96115814	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376327515	chr9:96115841-96115842	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566113891	chr9:96115852-96115853	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530108385	chr9:96115937-96115938	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs558013100	chr9:96115967-96115968	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369505412	chr9:96115968-96115969	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs570116043	chr9:96115985-96115986	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs184914571	chr9:96116008-96116009	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556286564	chr9:96116032-96116033	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538948705	chr9:96116040-96116041	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553632602	chr9:96116047-96116048	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373010026	chr9:96116083-96116084	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559261920	chr9:96116131-96116132	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2781286	chr9:96116135-96116136	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577635937	chr9:96116182-96116183	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs118120533	chr9:96116201-96116202	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113900904	chr9:96116211-96116212	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544654069	chr9:96116234-96116235	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576055841	chr9:96116269-96116270	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12350844	chr9:96116291-96116292	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs565504622	chr9:96116297-96116298	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575236446	chr9:96116386-96116387	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148481852	chr9:96116418-96116419	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34272996	chr9:96116451-96116452	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142647999	chr9:96116472-96116473	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560084508	chr9:96116501-96116502	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147638696	chr9:96116505-96116506	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112392933	chr9:96116515-96116516	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373730699	chr9:96116608-96116609	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570178364	chr9:96116662-96116663	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190741536	chr9:96116664-96116665	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184234250	chr9:96116684-96116685	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10761214	chr9:96116711-96116712	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538444188	chr9:96116834-96116835	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528231272	chr9:96116838-96116839	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553655371	chr9:96116843-96116844	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565599002	chr9:96116851-96116852	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10992712	chr9:96116878-96116879	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55728162	chr9:96116937-96116938	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554118579	chr9:96116973-96116974	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575925807	chr9:96116975-96116976	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10761215	chr9:96117149-96117150	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs556106736	chr9:96117201-96117202	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Mental retardation	21693067	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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96109200-96127800	Weak transcription	Right Atrium	heart
2	chr9:96111200-96115800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:96111200-96122400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:96112400-96116000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:96114000-96115800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:96114200-96115800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr9:96115400-96116000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
8	chr9:96115400-96116600	Enhancers	Placenta	Placenta
9	chr9:96115400-96117200	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
10	chr9:96115600-96115800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:96115600-96116000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
12	chr9:96115600-96116000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
13	chr9:96115600-96117000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
14	chr9:96115600-96117200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
15	chr9:96115600-96117200	Genic enhancers	H1 Cell Line	embryonic stem cell
16	chr9:96115800-96116000	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
17	chr9:96115800-96116000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr9:96115800-96116000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr9:96115800-96116200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:96115800-96117000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr9:96115800-96117400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:96116000-96116200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:96116000-96116600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:96116000-96116600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr9:96116000-96117000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr9:96116000-96117400	Genic enhancers	H9 Cell Line	embryonic stem cell
27	chr9:96116000-96118000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
28	chr9:96116000-96120200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:96116200-96119000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:96116200-96119800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:96116600-96117000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
32	chr9:96116600-96117000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:96116600-96117200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
34	chr9:96116600-96117800	Weak transcription	Placenta	Placenta
35	chr9:96116800-96117200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:96116800-96117200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:96116800-96117200	Enhancers	Hela-S3	cervix
38	chr9:96117000-96118200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
39	chr9:96117000-96120400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr9:96117200-96117800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr9:96117200-96118800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr9:96117200-96120000	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr9:96117200-96120600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr9:96117400-96117800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:96117400-96118000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr9:96117800-96118800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
47	chr9:96117800-96119600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:96118000-96118200	Genic enhancers	H9 Cell Line	embryonic stem cell
49	chr9:96118000-96121000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr9:96118200-96118400	Enhancers	Placenta	Placenta

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