Variant report

Variant	nsv831506
Chromosome Location	chr9:10040172-10204609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:10053198..10055670-chr9:10065089..10066974,2	K562	blood:
2	chr9:10053198..10055670-chr9:10065089..10066974,2	K562	blood:
3	chr9:10195419..10198358-chr9:10209955..10212738,2	K562	blood:
4	chr9:10194645..10196647-chr9:10198778..10200840,2	K562	blood:
5	chr9:10194645..10196647-chr9:10198778..10200840,2	K562	blood:
6	chr9:10060352..10060896-chr9:10268535..10269397,2	MCF-7	breast:
7	chr9:10045409..10046174-chr9:10268540..10269128,2	MCF-7	breast:

Extended variants
information (count: 5097 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:5097 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548497129	chr9:10040190-10040191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567525541	chr9:10040197-10040198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187676387	chr9:10040210-10040211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533977154	chr9:10040232-10040233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553753217	chr9:10040241-10040242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192493745	chr9:10040263-10040264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185825910	chr9:10040289-10040290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189086084	chr9:10040299-10040300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12552305	chr9:10040304-10040305	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192630918	chr9:10040324-10040325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562446662	chr9:10040335-10040336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34460264	chr9:10040342-10040343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536294230	chr9:10040344-10040345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12554898	chr9:10040345-10040346	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs291278	chr9:10040346-10040347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184419260	chr9:10040349-10040350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552372396	chr9:10040351-10040352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562526697	chr9:10040365-10040366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4538943	chr9:10040368-10040369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34858247	chr9:10040378-10040379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548184774	chr9:10040381-10040382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538080024	chr9:10040382-10040383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188395622	chr9:10040424-10040425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1441408	chr9:10040455-10040456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556496975	chr9:10040462-10040463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114647338	chr9:10040474-10040475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547350433	chr9:10040484-10040485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78196818	chr9:10040557-10040558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376924813	chr9:10040606-10040607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181218656	chr9:10040623-10040624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576554051	chr9:10040674-10040675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117671490	chr9:10040681-10040682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146863504	chr9:10040730-10040731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35629823	chr9:10040761-10040762	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541762216	chr9:10040767-10040768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560164558	chr9:10040804-10040805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576943107	chr9:10040811-10040812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139783012	chr9:10040833-10040834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562649197	chr9:10040852-10040853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531309581	chr9:10040861-10040862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77850090	chr9:10040865-10040866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151098495	chr9:10040877-10040878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367862900	chr9:10040899-10040900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527551412	chr9:10040914-10040915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140765281	chr9:10040984-10040985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113467197	chr9:10041004-10041005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150106593	chr9:10041030-10041031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs291277	chr9:10041086-10041087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375547318	chr9:10041121-10041122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573432770	chr9:10041134-10041135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10040000-10040400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:10040000-10040600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:10040000-10041000	Enhancers	Fetal Heart	heart
4	chr9:10040400-10040600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:10040400-10042200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:10040600-10041200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:10040600-10041800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:10040600-10046000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:10041000-10041600	Weak transcription	Fetal Heart	heart
10	chr9:10041600-10042000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:10041600-10042600	Enhancers	Fetal Heart	heart
12	chr9:10041800-10042400	Enhancers	Rectal Smooth Muscle	rectum
13	chr9:10041800-10042600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:10041800-10042600	Enhancers	Fetal Brain Female	brain
15	chr9:10042200-10042400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr9:10042600-10048000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:10046000-10046600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:10046600-10048200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:10048000-10049400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:10048200-10048800	Enhancers	Liver	Liver
21	chr9:10048200-10051000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:10049000-10050000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr9:10049000-10050400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:10049200-10050000	Enhancers	Fetal Heart	heart
25	chr9:10049200-10050200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr9:10049400-10056000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:10049800-10050600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:10050000-10050600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:10050000-10054600	Weak transcription	Fetal Heart	heart
30	chr9:10050200-10050400	Enhancers	Right Atrium	heart
31	chr9:10050400-10051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:10050600-10056000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:10050600-10056000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:10051000-10052000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:10052000-10052400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:10052400-10055400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:10054400-10055000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr9:10054400-10055000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr9:10054400-10055000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr9:10054600-10055000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr9:10054600-10057400	Enhancers	Fetal Heart	heart
42	chr9:10054800-10055000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr9:10054800-10056000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:10055400-10056200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:10056000-10056200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:10056000-10056800	Enhancers	HMEC	breast
47	chr9:10056000-10057000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:10056000-10057200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr9:10056000-10057600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:10056200-10060200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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