Variant report

Variant	nsv614696
Chromosome Location	chr9:78920114-78923257
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	chr9:78917718..78920640-chr9:78922356..78925203,2	K562	blood:
2	chr9:78917718..78920640-chr9:78922356..78925203,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374382563	chr9:78921435-78921436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148955807	chr9:78921654-78921655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368523666	chr9:78921709-78921710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536330691	chr9:78921862-78921863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2934990	chr9:78921870-78921871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113884147	chr9:78921961-78921962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3959961	chr9:78921967-78921968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2377531	chr9:78921995-78921996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113475761	chr9:78922003-78922004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574583359	chr9:78922036-78922037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539337368	chr9:78922041-78922042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113340740	chr9:78922048-78922049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543447544	chr9:78922068-78922069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2351466	chr9:78922100-78922101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs576723791	chr9:78922104-78922105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143846486	chr9:78922105-78922106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146308075	chr9:78922110-78922111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193144243	chr9:78922124-78922125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374753575	chr9:78922144-78922145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139168292	chr9:78922162-78922163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561092075	chr9:78922198-78922199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530147941	chr9:78922204-78922205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370703544	chr9:78922265-78922266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550203421	chr9:78922321-78922322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143089958	chr9:78922325-78922326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541077240	chr9:78922378-78922379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532504202	chr9:78922396-78922397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367566157	chr9:78922398-78922399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184353960	chr9:78922417-78922418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554525255	chr9:78922426-78922427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566358470	chr9:78922447-78922448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535283801	chr9:78922448-78922449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189103964	chr9:78922523-78922524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2889662	chr9:78922528-78922529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs28634742	chr9:78922537-78922538	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574705790	chr9:78922571-78922572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192399837	chr9:78922578-78922579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78962917	chr9:78922579-78922580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538120962	chr9:78922608-78922609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545377957	chr9:78922624-78922625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553330893	chr9:78922628-78922629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184989436	chr9:78922681-78922682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541662084	chr9:78922691-78922692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572467988	chr9:78922693-78922694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563584356	chr9:78922747-78922748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544292190	chr9:78922748-78922749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373724063	chr9:78922751-78922752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543568042	chr9:78922759-78922760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563787875	chr9:78922776-78922777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532430970	chr9:78922807-78922808	Weak transcription Enhancers	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:15 , 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	chr9:78917400-78928000	Weak transcription	Colonic Mucosa	Colon
6	chr9:78917600-78923600	Weak transcription	Fetal Intestine Large	intestine
7	chr9:78918000-78923000	Weak transcription	Stomach Mucosa	stomach
8	chr9:78918800-78924000	Weak transcription	Fetal Intestine Small	intestine
9	chr9:78919000-78924800	Weak transcription	Placenta	Placenta
10	chr9:78922400-78922600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:78922400-78922600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr9:78922600-78925600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:78922600-78953400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:78922800-78923400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr9:78923000-78923800	Enhancers	Stomach Mucosa	stomach

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