Variant report

Variant	esv3502975
Chromosome Location	chr9:97461331-97466629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97461434..97463640-chr9:97466023..97468786,2	K562	blood:
2	chr9:97461323..97463408-chr9:97466461..97468614,2	MCF-7	breast:
3	chr9:97459537..97462925-chr9:97464708..97468853,4	MCF-7	breast:
4	chr9:97459537..97462925-chr9:97464708..97468853,4	MCF-7	breast:
5	chr9:97461323..97463408-chr9:97466461..97468614,2	MCF-7	breast:
6	chr9:97461434..97463640-chr9:97466023..97468786,2	K562	blood:
7	chr9:97444988..97448492-chr9:97460708..97463598,3	MCF-7	breast:

Extended variants
information (count: 186 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs537145153	chr9:97461366-97461367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558665524	chr9:97461416-97461417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577006833	chr9:97461477-97461478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541199606	chr9:97461503-97461504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs137965298	chr9:97461568-97461569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142347630	chr9:97461703-97461704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142856133	chr9:97461725-97461726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs58221837	chr9:97461735-97461736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10993313	chr9:97461737-97461738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191804228	chr9:97461780-97461781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542513011	chr9:97461786-97461787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563137235	chr9:97461796-97461797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530564661	chr9:97461864-97461865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552286942	chr9:97461878-97461879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112751469	chr9:97461898-97461899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35840707	chr9:97461906-97461907	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144354318	chr9:97461907-97461908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546440392	chr9:97461910-97461911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113857078	chr9:97461914-97461915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141505751	chr9:97461919-97461920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184843002	chr9:97461928-97461929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569703744	chr9:97461933-97461934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367809405	chr9:97461938-97461939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537081340	chr9:97461941-97461942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558550713	chr9:97461946-97461947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534821141	chr9:97461952-97461953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189294617	chr9:97461958-97461959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180844512	chr9:97461959-97461960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10993314	chr9:97461986-97461987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111622391	chr9:97461993-97461994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184174142	chr9:97461995-97461996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542151495	chr9:97462005-97462006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564046955	chr9:97462011-97462012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575293328	chr9:97462012-97462013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545785286	chr9:97462032-97462033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547097601	chr9:97462062-97462063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7870801	chr9:97462068-97462069	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs140146787	chr9:97462099-97462100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540324209	chr9:97462116-97462117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111969342	chr9:97462121-97462122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557726220	chr9:97462130-97462131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529126926	chr9:97462167-97462168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554797590	chr9:97462168-97462169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545470374	chr9:97462169-97462170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550585951	chr9:97462208-97462209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147244567	chr9:97462252-97462253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140846833	chr9:97462382-97462383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533073646	chr9:97462409-97462410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375699896	chr9:97462421-97462422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552112483	chr9:97462509-97462510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97456200-97462200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:97456200-97463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:97457400-97465800	Weak transcription	Fetal Stomach	stomach
4	chr9:97459400-97461600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:97460000-97461400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:97460400-97461400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:97460600-97461400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:97460800-97465400	Weak transcription	Fetal Intestine Small	intestine
9	chr9:97461000-97462200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:97461000-97465400	Weak transcription	Fetal Intestine Large	intestine
11	chr9:97461000-97465800	Weak transcription	Fetal Lung	lung
12	chr9:97461200-97461600	Weak transcription	Placenta	Placenta
13	chr9:97461200-97462600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:97461200-97465400	Weak transcription	HepG2	liver
15	chr9:97461200-97465800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:97461600-97462000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:97461600-97463600	Enhancers	Placenta	Placenta
18	chr9:97462000-97462600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:97462200-97462600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:97462200-97462600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:97462600-97462800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:97463200-97463400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:97463600-97467200	Weak transcription	Placenta	Placenta
24	chr9:97465400-97465800	Enhancers	HepG2	liver
25	chr9:97465400-97466600	Enhancers	Fetal Intestine Large	intestine
26	chr9:97465400-97466600	Enhancers	Fetal Intestine Small	intestine
27	chr9:97465600-97466600	Enhancers	Liver	Liver
28	chr9:97465800-97466000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr9:97465800-97466000	Enhancers	Small Intestine	intestine
30	chr9:97465800-97466600	Flanking Active TSS	HepG2	liver
31	chr9:97465800-97469600	Enhancers	Fetal Lung	lung
32	chr9:97465800-97469600	Enhancers	Fetal Stomach	stomach
33	chr9:97466000-97467400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr9:97466000-97468400	Weak transcription	Small Intestine	intestine
35	chr9:97466200-97466400	Enhancers	Brain Germinal Matrix	brain
36	chr9:97466400-97467200	Weak transcription	Brain Germinal Matrix	brain
37	chr9:97466600-97467400	Weak transcription	Fetal Intestine Small	intestine
38	chr9:97466600-97469200	Weak transcription	Liver	Liver
39	chr9:97466600-97469200	Weak transcription	Fetal Intestine Large	intestine
40	chr9:97466600-97469800	Enhancers	HepG2	liver

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