Variant report

Variant	esv3481686
Chromosome Location	chr9:96469656-96472504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96470412..96472293-chr9:96481826..96483648,2	K562	blood:
2	chr9:96454609..96456562-chr9:96470228..96472178,2	MCF-7	breast:
3	chr9:96463023..96465693-chr9:96468979..96471782,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143907143	chr9:96469666-96469667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530677181	chr9:96469686-96469687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575231962	chr9:96469752-96469753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533151775	chr9:96469776-96469777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549249612	chr9:96469794-96469795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544905478	chr9:96469828-96469829	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs191861716	chr9:96469909-96469910	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs147406805	chr9:96469994-96469995	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs548522215	chr9:96469998-96469999	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs10821205	chr9:96470018-96470019	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531246673	chr9:96470039-96470040	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550443477	chr9:96470073-96470074	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs10992873	chr9:96470097-96470098	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539206729	chr9:96470126-96470127	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs548024604	chr9:96470129-96470130	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs566148816	chr9:96470145-96470146	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs536749116	chr9:96470180-96470181	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs114530456	chr9:96470243-96470244	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs139614058	chr9:96470245-96470246	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs537097219	chr9:96470247-96470248	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs149962853	chr9:96470257-96470258	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs62574024	chr9:96470310-96470311	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544772853	chr9:96470463-96470464	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs561916465	chr9:96470489-96470490	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs184040849	chr9:96470531-96470532	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs571765971	chr9:96470551-96470552	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs571372258	chr9:96470559-96470560	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs538868332	chr9:96470591-96470592	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs144105695	chr9:96470596-96470597	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs189498006	chr9:96470624-96470625	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs180999808	chr9:96470687-96470688	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs558401891	chr9:96470782-96470783	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs148686394	chr9:96470794-96470795	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs142076355	chr9:96470839-96470840	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs74531522	chr9:96470853-96470854	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs184331754	chr9:96470883-96470884	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs139209547	chr9:96470886-96470887	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs529232965	chr9:96470970-96470971	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs144017556	chr9:96471042-96471043	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548699287	chr9:96471068-96471069	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs570083174	chr9:96471076-96471077	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs190790035	chr9:96471096-96471097	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs146613749	chr9:96471138-96471139	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs116554110	chr9:96471148-96471149	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs116114615	chr9:96471162-96471163	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs553689727	chr9:96471169-96471170	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs181746073	chr9:96471236-96471237	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs76191882	chr9:96471240-96471241	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs28405578	chr9:96471242-96471243	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs7874508	chr9:96471252-96471253	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96464000-96469800	Weak transcription	Right Atrium	heart
2	chr9:96469600-96470000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:96469800-96470400	ZNF genes & repeats	Right Atrium	heart
4	chr9:96469800-96470600	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr9:96470400-96470800	Enhancers	Fetal Muscle Leg	muscle
6	chr9:96470400-96471000	Weak transcription	Right Atrium	heart
7	chr9:96470600-96471000	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr9:96470600-96471400	Enhancers	Fetal Stomach	stomach
9	chr9:96470600-96471400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr9:96470600-96473000	Enhancers	Stomach Smooth Muscle	stomach
11	chr9:96470800-96471000	Flanking Active TSS	Fetal Muscle Leg	muscle
12	chr9:96470800-96471400	Enhancers	Psoas Muscle	Psoas
13	chr9:96471000-96471400	Enhancers	Right Atrium	heart
14	chr9:96471000-96471400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr9:96471000-96471800	Enhancers	Fetal Muscle Leg	muscle
16	chr9:96471400-96471600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr9:96471800-96472200	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:96472400-96472600	Enhancers	Fetal Muscle Leg	muscle

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