Variant report

Variant	esv3481660
Chromosome Location	chr9:78918557-78923505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:78917718..78920640-chr9:78922356..78925203,2	K562	blood:
2	chr9:78594386..78595229-chr9:78917510..78918589,3	MCF-7	breast:
3	chr9:78917718..78920640-chr9:78922356..78925203,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77884000	chr9:78918594-78918595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186471757	chr9:78918613-78918614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545255819	chr9:78918677-78918678	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111490258	chr9:78918702-78918703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565017970	chr9:78918706-78918707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540989448	chr9:78918711-78918712	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149954376	chr9:78918731-78918732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541088168	chr9:78918775-78918776	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77470428	chr9:78918815-78918816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2842473	chr9:78918819-78918820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144916370	chr9:78918827-78918828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191762318	chr9:78918841-78918842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532367316	chr9:78918857-78918858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377090126	chr9:78918859-78918860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183615277	chr9:78918896-78918897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534034931	chr9:78918897-78918898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139813529	chr9:78918906-78918907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376422160	chr9:78918910-78918911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567341392	chr9:78918930-78918931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536217494	chr9:78918975-78918976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556850338	chr9:78918982-78918983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112455291	chr9:78918991-78918992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1845639	chr9:78919006-78919007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558895086	chr9:78919022-78919023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561133038	chr9:78919036-78919037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186254436	chr9:78919064-78919065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190717713	chr9:78919075-78919076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572625635	chr9:78919123-78919124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541149467	chr9:78919142-78919143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17062412	chr9:78919194-78919195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs574521878	chr9:78919203-78919204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543031009	chr9:78919209-78919210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376026017	chr9:78919233-78919234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111390706	chr9:78919235-78919236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183280568	chr9:78919236-78919237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186546106	chr9:78919277-78919278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531375121	chr9:78919294-78919295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76340843	chr9:78919316-78919317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192407710	chr9:78919362-78919363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547501146	chr9:78919370-78919371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567404900	chr9:78919378-78919379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2490591	chr9:78919387-78919388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs74429468	chr9:78919403-78919404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78423714	chr9:78919404-78919405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183184571	chr9:78919414-78919415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143356627	chr9:78919436-78919437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369907883	chr9:78919446-78919447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151296348	chr9:78919447-78919448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2453464	chr9:78919476-78919477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs77467230	chr9:78919569-78919570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78905800-78922400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:78912400-78927800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:78913400-78935200	Weak transcription	Small Intestine	intestine
4	chr9:78916000-78925400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr9:78917400-78918600	Weak transcription	Fetal Intestine Small	intestine
6	chr9:78917400-78928000	Weak transcription	Colonic Mucosa	Colon
7	chr9:78917600-78923600	Weak transcription	Fetal Intestine Large	intestine
8	chr9:78918000-78919000	Enhancers	Placenta	Placenta
9	chr9:78918000-78923000	Weak transcription	Stomach Mucosa	stomach
10	chr9:78918600-78918800	Strong transcription	Fetal Intestine Small	intestine
11	chr9:78918800-78924000	Weak transcription	Fetal Intestine Small	intestine
12	chr9:78919000-78924800	Weak transcription	Placenta	Placenta
13	chr9:78922400-78922600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:78922400-78922600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr9:78922600-78925600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:78922600-78953400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:78922800-78923400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr9:78923000-78923800	Enhancers	Stomach Mucosa	stomach
19	chr9:78923400-78928400	Weak transcription	Rectal Mucosa Donor 31	rectum

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