Variant report

Variant	esv2572392
Chromosome Location	chr9:73463260-73464668
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	chr9:73458072..73461486-chr9:73461575..73464902,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149877641	chr9:73463299-73463300	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs10868910	chr9:73463319-73463320	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115479829	chr9:73463328-73463329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs62545304	chr9:73463350-73463351	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144868360	chr9:73463368-73463369	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs541149463	chr9:73463525-73463526	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs183830830	chr9:73463581-73463582	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs555397861	chr9:73463615-73463616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574495318	chr9:73463631-73463632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541800925	chr9:73463669-73463670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575435494	chr9:73463680-73463681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73467853	chr9:73463689-73463690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564058260	chr9:73463690-73463691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533001926	chr9:73463710-73463711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540518482	chr9:73463720-73463721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560191709	chr9:73463723-73463724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565496660	chr9:73463728-73463729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555501972	chr9:73463729-73463730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529044876	chr9:73463750-73463751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532531460	chr9:73463802-73463803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547492939	chr9:73463869-73463870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565786990	chr9:73463941-73463942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530129263	chr9:73463981-73463982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376917072	chr9:73463983-73463984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148693535	chr9:73464049-73464050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62545305	chr9:73464058-73464059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs67152149	chr9:73464097-73464098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558547465	chr9:73464113-73464114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7028680	chr9:73464129-73464130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs142201997	chr9:73464130-73464131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7027846	chr9:73464196-73464197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191052341	chr9:73464224-73464225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541929778	chr9:73464240-73464241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556944352	chr9:73464244-73464245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575103259	chr9:73464247-73464248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182891573	chr9:73464251-73464252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571296174	chr9:73464294-73464295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565396312	chr9:73464310-73464311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386734867	chr9:73464312-73464313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7028973	chr9:73464327-73464328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7028011	chr9:73464357-73464358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187587945	chr9:73464431-73464432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533805801	chr9:73464439-73464440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7048214	chr9:73464458-73464459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7028142	chr9:73464462-73464463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7031308	chr9:73464526-73464527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140557525	chr9:73464532-73464533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537933312	chr9:73464572-73464573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116979767	chr9:73464574-73464575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191701040	chr9:73464590-73464591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73427600-73483400	Weak transcription	Aorta	Aorta
2	chr9:73448200-73473600	Weak transcription	Fetal Kidney	kidney
3	chr9:73448400-73469000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr9:73450600-73477600	Weak transcription	Ovary	ovary
5	chr9:73452000-73469600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:73455600-73480600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:73457200-73485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:73457800-73480600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:73461400-73482000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:73462200-73463600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:73462600-73463600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr9:73463600-73471000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:73463600-73472800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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