Variant report

Variant	esv1003325
Chromosome Location	chr9:104441313-104447221
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	chr9:104437852..104440174-chr9:104442279..104444495,2	K562	blood:
2	chr9:104441179..104443367-chr9:104448568..104451134,2	K562	blood:

Extended variants
information (count: 183 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62576306	chr9:104441380-104441381	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192270655	chr9:104441429-104441430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183645311	chr9:104441451-104441452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117555361	chr9:104441520-104441521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187899796	chr9:104441527-104441528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539346162	chr9:104441595-104441596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371217061	chr9:104441596-104441597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556403966	chr9:104441676-104441677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4742822	chr9:104441754-104441755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs74887116	chr9:104441755-104441756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371710902	chr9:104441759-104441760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545311285	chr9:104441760-104441761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565063813	chr9:104441764-104441765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4742823	chr9:104441772-104441773	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs540272018	chr9:104441790-104441791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112817532	chr9:104441853-104441854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190643632	chr9:104441855-104441856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201148783	chr9:104441862-104441863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373807665	chr9:104442046-104442047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2506349	chr9:104442128-104442129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs549130280	chr9:104442139-104442140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563118336	chr9:104442169-104442170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371874905	chr9:104442213-104442214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552034884	chr9:104442221-104442222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147649529	chr9:104442256-104442257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533764186	chr9:104442336-104442337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547416994	chr9:104442339-104442340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567328268	chr9:104442367-104442368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536370468	chr9:104442378-104442379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556057869	chr9:104442504-104442505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114541898	chr9:104442587-104442588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375157876	chr9:104442604-104442605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2506350	chr9:104442646-104442647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572057865	chr9:104442656-104442657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141529939	chr9:104442680-104442681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2506351	chr9:104442736-104442737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182753051	chr9:104442772-104442773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373869885	chr9:104442815-104442816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536129513	chr9:104442817-104442818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552420019	chr9:104442862-104442863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116923404	chr9:104442872-104442873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570524178	chr9:104443008-104443009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528199196	chr9:104443027-104443028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546720677	chr9:104443033-104443034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12344841	chr9:104443077-104443078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145389693	chr9:104443103-104443104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551734339	chr9:104443123-104443124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145246871	chr9:104443209-104443210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187084930	chr9:104443213-104443214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192296684	chr9:104443220-104443221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104440000-104441800	Enhancers	Fetal Heart	heart
2	chr9:104441400-104441800	Enhancers	Fetal Lung	lung
3	chr9:104441800-104445400	Weak transcription	Fetal Lung	lung
4	chr9:104443200-104443400	Enhancers	Fetal Brain Male	brain
5	chr9:104443200-104446000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr9:104443400-104444800	Weak transcription	Fetal Brain Male	brain
7	chr9:104444800-104445000	Enhancers	Fetal Brain Male	brain
8	chr9:104445000-104445800	Weak transcription	Fetal Brain Male	brain
9	chr9:104445400-104445600	Active TSS	Fetal Lung	lung
10	chr9:104445600-104445800	Flanking Active TSS	Fetal Lung	lung
11	chr9:104445800-104446400	Enhancers	Fetal Brain Male	brain
12	chr9:104445800-104446400	Enhancers	Fetal Lung	lung
13	chr9:104446400-104451200	Weak transcription	Fetal Lung	lung
14	chr9:104446400-104451800	Weak transcription	Fetal Brain Male	brain

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