Variant report

Variant	esv3344238
Chromosome Location	chr9:97811963-97812232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97679968..97683217-chr9:97810510..97812408,3	MCF-7	breast:
2	chr9:97765581..97769970-chr9:97809027..97814302,8	MCF-7	breast:
3	chr9:97519868..97522673-chr9:97811342..97812928,2	K562	blood:
4	chr9:97763979..97769403-chr9:97805439..97812937,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4743981	chr9:97812002-97812003	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557874001	chr9:97812012-97812013	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562005795	chr9:97812060-97812061	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184931777	chr9:97812128-97812129	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143004604	chr9:97812158-97812159	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138724737	chr9:97812200-97812201	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569702173	chr9:97812219-97812220	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' 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:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97809600-97813200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr9:97810000-97816800	Transcr. at gene 5' and 3'	A549	lung
3	chr9:97810200-97812800	Active TSS	Psoas Muscle	Psoas
4	chr9:97810200-97813000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:97810200-97813000	Active TSS	Aorta	Aorta
6	chr9:97810200-97814000	Active TSS	Stomach Smooth Muscle	stomach
7	chr9:97810400-97812000	Active TSS	Brain Cingulate Gyrus	brain
8	chr9:97810400-97812000	Active TSS	NHDF-Ad	bronchial
9	chr9:97810400-97812200	Active TSS	Fetal Kidney	kidney
10	chr9:97810400-97812400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr9:97810400-97812800	Active TSS	Right Atrium	heart
12	chr9:97810400-97813000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:97810400-97813000	Active TSS	Colon Smooth Muscle	Colon
14	chr9:97810400-97813000	Active TSS	Ovary	ovary
15	chr9:97810400-97813200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr9:97810600-97812000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr9:97810600-97812000	Active TSS	Brain Anterior Caudate	brain
18	chr9:97810600-97812000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr9:97810600-97812000	Active TSS	Duodenum Mucosa	Duodenum
20	chr9:97810600-97812000	Active TSS	HSMM	muscle
21	chr9:97810600-97812200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr9:97810600-97812200	Active TSS	Fetal Stomach	stomach
23	chr9:97810600-97812600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:97810600-97812800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:97810600-97813000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr9:97810800-97812200	Active TSS	NHEK	skin
27	chr9:97810800-97812400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:97810800-97812400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:97810800-97812800	Flanking Active TSS	HepG2	liver
30	chr9:97810800-97813200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:97810800-97813400	Active TSS	NHLF	lung
32	chr9:97810800-97813800	Active TSS	Esophagus	oesophagus
33	chr9:97811000-97812000	Flanking Active TSS	NH-A	brain
34	chr9:97811000-97812200	Active TSS	HSMMtube	muscle
35	chr9:97811000-97812400	Active TSS	Stomach Mucosa	stomach
36	chr9:97811000-97813200	Transcr. at gene 5' and 3'	Osteobl	bone
37	chr9:97811000-97813400	Active TSS	HMEC	breast
38	chr9:97811200-97812000	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr9:97811200-97812800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:97811200-97813000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:97811200-97815200	Weak transcription	Small Intestine	intestine
42	chr9:97811400-97812000	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr9:97811400-97812200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:97811400-97812200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:97811400-97812200	Active TSS	Fetal Muscle Leg	muscle
46	chr9:97811400-97812200	Weak transcription	Pancreas	Pancrea
47	chr9:97811400-97812400	Weak transcription	Colonic Mucosa	Colon
48	chr9:97811400-97812600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
49	chr9:97811400-97812800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr9:97811400-97812800	Weak transcription	Lung	lung

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