Variant report

Variant	nsv972605
Chromosome Location	chr9:10000263-10006400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 283 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576435729	chr9:10000273-10000274	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs542355594	chr9:10000274-10000275	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs555672505	chr9:10000296-10000297	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs149718107	chr9:10000302-10000303	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs536154779	chr9:10000375-10000376	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs541225822	chr9:10000389-10000390	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs564410479	chr9:10000399-10000400	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192565530	chr9:10000414-10000415	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs1419187	chr9:10000431-10000432	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562533413	chr9:10000438-10000439	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531305704	chr9:10000440-10000441	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs572698041	chr9:10000482-10000483	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs183491061	chr9:10000485-10000486	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561639034	chr9:10000493-10000494	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs535258063	chr9:10000494-10000495	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs77048476	chr9:10000506-10000507	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115504164	chr9:10000533-10000534	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs539772118	chr9:10000536-10000537	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs10978155	chr9:10000548-10000549	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570072692	chr9:10000556-10000557	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs370711863	chr9:10000575-10000576	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535487706	chr9:10000618-10000619	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555782017	chr9:10000655-10000656	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs572467267	chr9:10000665-10000666	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs543006464	chr9:10000669-10000670	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563306575	chr9:10000670-10000671	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573821588	chr9:10000676-10000677	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs557966332	chr9:10000679-10000680	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs542930478	chr9:10000696-10000697	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs374158407	chr9:10000715-10000716	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs369854007	chr9:10000746-10000747	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559251190	chr9:10000772-10000773	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs188173202	chr9:10000774-10000775	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs149160634	chr9:10000786-10000787	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs207470089	chr9:10000800-10000801	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs12551800	chr9:10000814-10000815	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs562338532	chr9:10000827-10000828	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368635019	chr9:10000850-10000851	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs34477361	chr9:10000872-10000873	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs370939911	chr9:10000883-10000884	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs74669940	chr9:10000899-10000900	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs10978156	chr9:10000931-10000932	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs549994780	chr9:10000935-10000936	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs561795715	chr9:10000984-10000985	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564236102	chr9:10000994-10000995	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs568330451	chr9:10001011-10001012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533468214	chr9:10001013-10001014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191638988	chr9:10001018-10001019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547591612	chr9:10001027-10001028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74629381	chr9:10001032-10001033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9989800-10000400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:9995200-10001000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr9:9997600-10000400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:9997600-10000800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:9998800-10001400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:9999000-10000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:9999000-10001000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:9999200-10000400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:9999200-10000800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:9999400-10000400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr9:9999400-10000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:9999400-10007400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:9999800-10000400	Active TSS	Primary hematopoietic stem cells	blood
14	chr9:10000000-10000400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:10000000-10002600	Weak transcription	HUVEC	blood vessel
16	chr9:10000000-10004800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr9:10000200-10000400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:10000200-10000600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr9:10000200-10001400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr9:10000400-10000600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:10000400-10000800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:10000400-10001000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr9:10000400-10001000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:10000600-10001000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:10000600-10004800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:10000600-10007000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr9:10000800-10001000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr9:10000800-10001000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:10000800-10001000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:10001000-10004600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:10001000-10005200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr9:10001000-10008000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr9:10001400-10005200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr9:10001400-10007000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr9:10002600-10003600	Enhancers	HUVEC	blood vessel
36	chr9:10003000-10003200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:10003200-10004400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:10003600-10004800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr9:10003600-10004800	Weak transcription	HUVEC	blood vessel
40	chr9:10004400-10005800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:10004600-10005200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:10004800-10005000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr9:10004800-10005400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:10004800-10005400	Enhancers	HUVEC	blood vessel
45	chr9:10004800-10005600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr9:10004800-10005600	Enhancers	Fetal Heart	heart
47	chr9:10004800-10005800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr9:10004800-10005800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:10005000-10007200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr9:10005200-10005600	Enhancers	HUES6 Cell Line	embryonic stem cell

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