Variant report

Variant	nsv512108
Chromosome Location	chr9:94557989-94561553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94547554..94551405-chr9:94555591..94559410,4	K562	blood:
2	chr9:94559930..94562957-chr9:94564256..94567376,4	K562	blood:
3	chr9:94560147..94563596-chr9:94565851..94569196,3	MCF-7	breast:
4	chr9:94560025..94562581-chr9:94709584..94711088,2	K562	blood:

Variant related genes	Relation type
ENSG00000169071	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554470613	chr9:94558013-94558014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572606344	chr9:94558052-94558053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4744101	chr9:94558058-94558059	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs4743852	chr9:94558126-94558127	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs573828999	chr9:94558149-94558150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544300848	chr9:94558151-94558152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551053998	chr9:94558153-94558154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573762542	chr9:94558170-94558171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141293136	chr9:94558202-94558203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533164264	chr9:94558216-94558217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111665380	chr9:94558217-94558218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564486968	chr9:94558256-94558257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10636189	chr9:94558260-94558261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10667142	chr9:94558261-94558262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556231511	chr9:94558283-94558284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190242650	chr9:94558313-94558314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560399631	chr9:94558322-94558323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545104467	chr9:94558323-94558324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527550476	chr9:94558326-94558327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372284921	chr9:94558345-94558346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549005599	chr9:94558359-94558360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10119449	chr9:94558398-94558399	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531726715	chr9:94558401-94558402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181048175	chr9:94558410-94558411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12343807	chr9:94558427-94558428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571623242	chr9:94558441-94558442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185623679	chr9:94558481-94558482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554035686	chr9:94558520-94558521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140431971	chr9:94558545-94558546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566406132	chr9:94558572-94558573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536944462	chr9:94558584-94558585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12343882	chr9:94558597-94558598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145072977	chr9:94558599-94558600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189635773	chr9:94558604-94558605	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs12343884	chr9:94558607-94558608	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs12343889	chr9:94558638-94558639	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs180974584	chr9:94558663-94558664	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs137998453	chr9:94558696-94558697	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs577618637	chr9:94558702-94558703	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs62563411	chr9:94558744-94558745	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545197219	chr9:94558747-94558748	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs560079381	chr9:94558845-94558846	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs572077866	chr9:94558894-94558895	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs150143284	chr9:94558900-94558901	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs138620471	chr9:94558965-94558966	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs185147939	chr9:94558977-94558978	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs368717688	chr9:94558983-94558984	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs191879127	chr9:94558984-94558985	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs557400369	chr9:94558987-94558988	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs111707001	chr9:94559016-94559017	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	21364760	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94549400-94558000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:94551400-94558000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:94553200-94558000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:94553200-94561200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:94553600-94558000	Weak transcription	NHEK	skin
6	chr9:94553600-94558400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:94553800-94558200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:94554000-94558000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:94554200-94558000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:94555400-94562000	Weak transcription	Right Atrium	heart
11	chr9:94556400-94558000	Weak transcription	Ovary	ovary
12	chr9:94556800-94558000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr9:94557800-94558600	Enhancers	Fetal Lung	lung
14	chr9:94557800-94559000	Enhancers	Colon Smooth Muscle	Colon
15	chr9:94557800-94559000	Enhancers	K562	blood
16	chr9:94557800-94559200	Enhancers	Stomach Smooth Muscle	stomach
17	chr9:94558000-94558600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:94558000-94558600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:94558000-94558600	Enhancers	Fetal Intestine Large	intestine
20	chr9:94558000-94558800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:94558000-94558800	Enhancers	Fetal Stomach	stomach
22	chr9:94558000-94559000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:94558000-94559000	Enhancers	Fetal Intestine Small	intestine
24	chr9:94558000-94559000	Enhancers	Ovary	ovary
25	chr9:94558000-94559000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr9:94558000-94559000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr9:94558000-94559000	Enhancers	Rectal Smooth Muscle	rectum
28	chr9:94558000-94559000	Enhancers	NHEK	skin
29	chr9:94558000-94559200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:94558000-94559200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:94558200-94558400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:94558200-94558400	Enhancers	Duodenum Mucosa	Duodenum
33	chr9:94558200-94558600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:94558200-94558600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:94558200-94559000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:94558200-94559000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr9:94558200-94559000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr9:94558200-94559200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr9:94558400-94559000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:94558400-94559000	Enhancers	Colonic Mucosa	Colon
41	chr9:94558400-94560800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr9:94558400-94566400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:94558600-94558800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:94558600-94559000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr9:94558600-94559200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
46	chr9:94558600-94561000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:94558600-94561000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:94558600-94561000	Weak transcription	Fetal Intestine Large	intestine
49	chr9:94558600-94561400	Weak transcription	Fetal Lung	lung
50	chr9:94558600-94565200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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