Variant report

Variant	nsv613314
Chromosome Location	chr9:9516348-9605832
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	chr9:9539103..9541014-chr9:9543806..9546014,2	K562	blood:
2	chr9:9539103..9541014-chr9:9543806..9546014,2	K562	blood:

Extended variants
information (count: 1765 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:1765 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs668205	chr9:9516348-9516349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575127360	chr9:9516357-9516358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563079373	chr9:9516361-9516362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535594661	chr9:9516366-9516367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547176164	chr9:9516367-9516368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186830792	chr9:9516374-9516375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191501646	chr9:9516378-9516379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557364952	chr9:9516394-9516395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575609232	chr9:9516424-9516425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538169235	chr9:9516462-9516463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528948181	chr9:9516516-9516517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557993933	chr9:9516517-9516518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371633540	chr9:9516539-9516540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386732455	chr9:9516569-9516570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71500989	chr9:9516570-9516571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560518864	chr9:9516571-9516572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112004646	chr9:9516575-9516576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183290855	chr9:9516595-9516596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564502972	chr9:9516696-9516697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139753061	chr9:9516719-9516720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550117916	chr9:9516726-9516727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561968991	chr9:9516727-9516728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529169101	chr9:9516732-9516733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188588854	chr9:9516734-9516735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192958245	chr9:9516745-9516746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565719073	chr9:9516757-9516758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373940189	chr9:9516773-9516774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149810659	chr9:9516824-9516825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184902136	chr9:9516893-9516894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569325887	chr9:9516896-9516897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371026748	chr9:9516935-9516936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551404919	chr9:9516960-9516961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571488447	chr9:9516962-9516963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556582225	chr9:9516986-9516987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188049565	chr9:9516991-9516992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7034573	chr9:9517017-9517018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs78343408	chr9:9517031-9517032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572657270	chr9:9517040-9517041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546343892	chr9:9517079-9517080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564541301	chr9:9517110-9517111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75221869	chr9:9517136-9517137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs682272	chr9:9517170-9517171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs10977832	chr9:9517208-9517209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529290871	chr9:9517215-9517216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191260873	chr9:9517218-9517219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529220099	chr9:9517237-9517238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10977833	chr9:9517290-9517291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145703620	chr9:9517311-9517312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570202758	chr9:9517323-9517324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs16929647	chr9:9517332-9517333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:113)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Autism	20531469	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9514400-9518200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr9:9514400-9519200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:9514600-9520400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:9518200-9518800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:9518600-9518800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:9518800-9520400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:9518800-9520400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:9519200-9519800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:9519800-9520200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr9:9520200-9524000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:9520400-9522000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:9520400-9522400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:9520400-9524200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr9:9520600-9522000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr9:9520600-9522200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr9:9520600-9524000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr9:9520800-9521000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:9520800-9521600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr9:9520800-9522000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:9520800-9523800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr9:9521000-9521200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:9521000-9521400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr9:9521000-9521400	Enhancers	Fetal Kidney	kidney
24	chr9:9521000-9521600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:9521200-9521400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:9521200-9521600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr9:9521200-9521600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:9521400-9521600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:9521400-9522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr9:9521400-9523600	Weak transcription	Fetal Kidney	kidney
31	chr9:9521600-9522000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr9:9521600-9522600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:9521600-9522800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:9521600-9523000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:9521600-9523400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:9522000-9522200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:9522000-9522800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr9:9522000-9522800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:9522000-9523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:9522200-9523000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr9:9522200-9523600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr9:9522400-9522600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr9:9522600-9522800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr9:9522600-9523200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:9522800-9523000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr9:9522800-9523000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr9:9522800-9523000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr9:9522800-9523000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:9522800-9524200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr9:9522800-9524200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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