Variant report

Variant	esv1655411
Chromosome Location	chr9:97742111-97742112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97741635..97744525-chr9:97765545..97768244,3	K562	blood:
2	chr9:97741056..97743749-chr9:97766661..97768613,2	MCF-7	breast:
3	chr9:97740546..97743135-chr9:97764674..97767622,2	K562	blood:
4	chr9:97688920..97691846-chr9:97741162..97743776,2	K562	blood:
5	chr9:97740253..97742678-chr9:97742723..97744837,2	MCF-7	breast:
6	chr9:97685017..97689714-chr9:97737820..97743340,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 72 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1004427	chr9:97742111-97742112	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs71498951	chr9:97742112-97742113	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97670600-97766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:97713800-97757400	Weak transcription	Fetal Brain Female	brain
3	chr9:97715000-97758200	Weak transcription	Spleen	Spleen
4	chr9:97715200-97748200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:97715400-97749600	Weak transcription	Thymus	Thymus
6	chr9:97715600-97742400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:97716000-97742400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr9:97718800-97744000	Weak transcription	GM12878-XiMat	blood
9	chr9:97719000-97743400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:97719000-97745800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr9:97719400-97746200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:97719400-97747000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr9:97719600-97747000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:97724800-97743000	Weak transcription	Brain Angular Gyrus	brain
15	chr9:97724800-97743000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:97726800-97742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:97728000-97742800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:97728000-97754200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:97731600-97743000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:97732800-97742400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:97733400-97757600	Weak transcription	Esophagus	oesophagus
22	chr9:97734600-97757600	Weak transcription	Gastric	stomach
23	chr9:97734800-97742400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:97734800-97743000	Weak transcription	Brain Substantia Nigra	brain
25	chr9:97734800-97747200	Weak transcription	Right Atrium	heart
26	chr9:97735000-97742800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr9:97735600-97743000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:97736000-97742200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr9:97736200-97742200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:97736200-97743000	Weak transcription	Brain Anterior Caudate	brain
31	chr9:97736200-97748000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:97736600-97747000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr9:97736600-97757200	Weak transcription	NH-A	brain
34	chr9:97736600-97757400	Weak transcription	NHLF	lung
35	chr9:97736600-97757600	Weak transcription	Adipose Nuclei	Adipose
36	chr9:97736600-97757600	Weak transcription	Osteobl	bone
37	chr9:97736600-97766200	Weak transcription	Right Ventricle	heart
38	chr9:97737000-97742200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:97737000-97757200	Weak transcription	Fetal Heart	heart
40	chr9:97737000-97758200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:97738000-97747200	Weak transcription	Pancreas	Pancrea
42	chr9:97738000-97757600	Weak transcription	Lung	lung
43	chr9:97738200-97757600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:97738400-97742400	Weak transcription	Aorta	Aorta
45	chr9:97738600-97742400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr9:97738600-97745200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr9:97738600-97745600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr9:97738600-97749200	Weak transcription	Ovary	ovary
49	chr9:97738600-97753600	Weak transcription	Fetal Lung	lung
50	chr9:97738600-97757200	Weak transcription	Muscle Satellite Cultured Cells	--

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