Variant report

Variant	nsv613321
Chromosome Location	chr9:9724976-9758609
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	chr1:11968121..11968918-chr9:9730851..9731851,3	HCT-116	colon:
2	chr9:9751206..9753342-chr9:9765211..9766880,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199347	chromatin interactions

Extended variants
information (count: 770 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568240685	chr9:9729200-9729201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535690827	chr9:9729215-9729216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553677300	chr9:9729282-9729283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184119452	chr9:9729285-9729286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147005749	chr9:9729318-9729319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557859178	chr9:9729324-9729325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576123875	chr9:9729332-9729333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538708940	chr9:9729343-9729344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117496832	chr9:9729368-9729369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563242369	chr9:9729388-9729389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74570207	chr9:9729408-9729409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148070997	chr9:9729430-9729431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7045439	chr9:9729439-9729440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141733486	chr9:9729450-9729451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559479870	chr9:9729469-9729470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527849435	chr9:9729480-9729481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552265847	chr9:9729507-9729508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113404233	chr9:9729519-9729520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555409056	chr9:9729541-9729542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189521933	chr9:9729545-9729546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111866075	chr9:9729572-9729573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549905658	chr9:9729602-9729603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568385684	chr9:9729636-9729637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535396845	chr9:9729641-9729642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150143061	chr9:9729658-9729659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138190514	chr9:9729695-9729696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539610263	chr9:9729699-9729700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572111355	chr9:9729751-9729752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181182034	chr9:9729756-9729757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557922522	chr9:9729769-9729770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527966516	chr9:9729771-9729772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576185282	chr9:9729774-9729775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543445180	chr9:9729811-9729812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142876829	chr9:9729867-9729868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573532774	chr9:9729878-9729879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183901272	chr9:9729886-9729887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188683633	chr9:9729905-9729906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547805382	chr9:9729920-9729921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527912806	chr9:9729950-9729951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7026321	chr9:9730031-9730032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570999278	chr9:9730033-9730034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564285169	chr9:9730048-9730049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146100317	chr9:9730050-9730051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116717299	chr9:9730084-9730085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568368368	chr9:9730088-9730089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181538644	chr9:9730092-9730093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140017259	chr9:9730165-9730166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565964373	chr9:9730179-9730180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114376512	chr9:9730189-9730190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186060723	chr9:9730200-9730201	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9729200-9731200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr9:9730200-9730600	Enhancers	GM12878-XiMat	blood
3	chr9:9745200-9750800	Enhancers	HUVEC	blood vessel
4	chr9:9747800-9748600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr9:9748600-9752600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr9:9749600-9751000	Enhancers	Fetal Kidney	kidney
7	chr9:9750600-9751200	Enhancers	Liver	Liver
8	chr9:9751200-9751400	Flanking Active TSS	Liver	Liver
9	chr9:9751400-9751600	Enhancers	Liver	Liver
10	chr9:9751600-9751800	Flanking Active TSS	Liver	Liver
11	chr9:9751800-9753600	Enhancers	Liver	Liver
12	chr9:9752200-9754200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:9752200-9754800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr9:9752400-9752800	Enhancers	Rectal Smooth Muscle	rectum
15	chr9:9752400-9753600	Enhancers	HepG2	liver
16	chr9:9752600-9753400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr9:9752600-9754000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:9752800-9753400	Enhancers	Adipose Nuclei	Adipose
19	chr9:9752800-9753400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr9:9752800-9753600	Enhancers	Brain Hippocampus Middle	brain
21	chr9:9753400-9754400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr9:9754200-9754600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:9754200-9755200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr9:9754400-9754600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr9:9754400-9755000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr9:9756000-9756600	Enhancers	Fetal Heart	heart

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