Variant report

Variant	esv2072718
Chromosome Location	chr9:96730258-96730801
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	chr9:96724820..96727040-chr9:96730080..96732897,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139947675	chr9:96730267-96730268	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375940897	chr9:96730279-96730280	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550062596	chr9:96730312-96730313	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569790805	chr9:96730355-96730356	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72479440	chr9:96730359-96730360	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111762738	chr9:96730419-96730420	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113591279	chr9:96730427-96730428	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111977139	chr9:96730430-96730431	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112580907	chr9:96730440-96730441	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111898734	chr9:96730444-96730445	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571821891	chr9:96730452-96730453	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113873687	chr9:96730455-96730456	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187742842	chr9:96730483-96730484	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369834426	chr9:96730484-96730485	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111797661	chr9:96730496-96730497	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112795482	chr9:96730504-96730505	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111802125	chr9:96730507-96730508	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112939380	chr9:96730510-96730511	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113450818	chr9:96730515-96730516	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112648723	chr9:96730519-96730520	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190545269	chr9:96730560-96730561	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183305682	chr9:96730565-96730566	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372574214	chr9:96730596-96730597	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376600157	chr9:96730597-96730598	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116316871	chr9:96730671-96730672	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113567709	chr9:96730722-96730723	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145430092	chr9:96730723-96730724	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542599180	chr9:96730726-96730727	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12338762	chr9:96730732-96730733	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs80147706	chr9:96730756-96730757	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188361712	chr9:96730788-96730789	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544496971	chr9:96730795-96730796	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572929625	chr9:96730797-96730798	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	22522925	CNVD
Effusion lymphoma	18079361	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96725400-96730800	Weak transcription	Stomach Mucosa	stomach
2	chr9:96726600-96730400	Strong transcription	Fetal Stomach	stomach
3	chr9:96726600-96731800	Genic enhancers	Stomach Smooth Muscle	stomach
4	chr9:96728600-96730800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:96728800-96730600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:96729600-96730800	Weak transcription	Esophagus	oesophagus
7	chr9:96729800-96732800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:96730000-96730400	Weak transcription	Gastric	stomach
9	chr9:96730000-96730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:96730000-96731600	Enhancers	Fetal Muscle Trunk	muscle
11	chr9:96730400-96730800	Weak transcription	Fetal Stomach	stomach
12	chr9:96730400-96731600	Enhancers	Gastric	stomach
13	chr9:96730600-96730800	Enhancers	Placenta	Placenta
14	chr9:96730600-96731000	Enhancers	HepG2	liver
15	chr9:96730600-96731200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr9:96730600-96731400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:96730600-96731400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:96730600-96731400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr9:96730600-96731400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:96730600-96731400	Enhancers	Fetal Muscle Leg	muscle
21	chr9:96730600-96731400	Enhancers	HSMMtube	muscle
22	chr9:96730600-96731600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:96730800-96731000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:96730800-96731000	Bivalent Enhancer	Placenta	Placenta
25	chr9:96730800-96731000	Enhancers	Stomach Mucosa	stomach
26	chr9:96730800-96731200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:96730800-96731200	Enhancers	Esophagus	oesophagus
28	chr9:96730800-96731200	Enhancers	NH-A	brain
29	chr9:96730800-96731400	Genic enhancers	Fetal Stomach	stomach
30	chr9:96730800-96731600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:96730800-96731600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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