Variant report

Variant	nsv613319
Chromosome Location	chr9:9630855-9778653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:9639781..9641559-chr9:9642274..9644789,2	MCF-7	breast:
2	chr9:9751206..9753342-chr9:9765211..9766880,2	MCF-7	breast:
3	chr1:11968121..11968918-chr9:9730851..9731851,3	HCT-116	colon:
4	chr9:9639781..9641559-chr9:9642274..9644789,2	MCF-7	breast:
5	chr9:9751206..9753342-chr9:9765211..9766880,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199347	chromatin interactions

Extended variants
information (count: 2743 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:2743 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10977896	chr9:9630855-9630856	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568511187	chr9:9630856-9630857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535554459	chr9:9630859-9630860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553781904	chr9:9630860-9630861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142117575	chr9:9630871-9630872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77858152	chr9:9630949-9630950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10816149	chr9:9631012-9631013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576167026	chr9:9631013-9631014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80226115	chr9:9631021-9631022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555489589	chr9:9631101-9631102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561651189	chr9:9631115-9631116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573709078	chr9:9631127-9631128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541112711	chr9:9631192-9631193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372086009	chr9:9631193-9631194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11793550	chr9:9631197-9631198	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559433951	chr9:9631199-9631200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79196911	chr9:9631204-9631205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11793566	chr9:9631230-9631231	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116243040	chr9:9631346-9631347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181363182	chr9:9631394-9631395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186080268	chr9:9631400-9631401	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550376131	chr9:9631458-9631459	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs568542846	chr9:9631461-9631462	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs371246143	chr9:9631478-9631479	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs529386396	chr9:9631512-9631513	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs532101379	chr9:9631514-9631515	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs572370104	chr9:9631518-9631519	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs376940119	chr9:9631519-9631520	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs189231239	chr9:9631522-9631523	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181795527	chr9:9631555-9631556	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs539407840	chr9:9631576-9631577	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs111374420	chr9:9631581-9631582	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs558005271	chr9:9631587-9631588	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs578201670	chr9:9631597-9631598	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs543961465	chr9:9631622-9631623	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs569904973	chr9:9631625-9631626	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs140073875	chr9:9631640-9631641	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs555572772	chr9:9631673-9631674	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs145284464	chr9:9631675-9631676	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs943298	chr9:9631694-9631695	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs59257162	chr9:9631766-9631767	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs577724366	chr9:9631775-9631776	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs544990536	chr9:9631802-9631803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563112796	chr9:9631867-9631868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141163615	chr9:9631894-9631895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543746470	chr9:9631897-9631898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144728771	chr9:9631899-9631900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529398541	chr9:9631908-9631909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79091674	chr9:9631914-9631915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114411425	chr9:9631941-9631942	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Chordoma	21215367	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9629600-9631800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr9:9630000-9631000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:9630600-9631000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr9:9630600-9631600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:9631000-9631600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:9631000-9632200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr9:9631400-9631600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr9:9631400-9632200	Enhancers	GM12878-XiMat	blood
9	chr9:9631600-9631800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:9631600-9631800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr9:9631600-9632200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr9:9632200-9635800	Weak transcription	GM12878-XiMat	blood
13	chr9:9637600-9638000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:9640400-9641200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr9:9641200-9641600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr9:9641600-9641800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr9:9641800-9643000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr9:9643000-9643400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr9:9643000-9645400	Enhancers	Dnd41	blood
20	chr9:9643400-9645000	Enhancers	Primary hematopoietic stem cells	blood
21	chr9:9643400-9647600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr9:9643600-9644600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:9643800-9644400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:9643800-9645000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:9644000-9644400	Enhancers	HUVEC	blood vessel
26	chr9:9644200-9644400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:9644200-9644800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr9:9644200-9645200	Enhancers	Primary T cells from cord blood	blood
29	chr9:9644400-9646800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr9:9644400-9646800	Weak transcription	HUVEC	blood vessel
31	chr9:9644600-9645000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:9646200-9648000	Enhancers	NH-A	brain
33	chr9:9646800-9648200	Enhancers	HUVEC	blood vessel
34	chr9:9646800-9648600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr9:9647600-9648200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr9:9647600-9648600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr9:9647800-9648200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:9648200-9648600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr9:9648600-9649400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr9:9655200-9656000	Enhancers	Placenta	Placenta
41	chr9:9667600-9668000	Enhancers	Aorta	Aorta
42	chr9:9670600-9670800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:9679000-9680200	Enhancers	Liver	Liver
44	chr9:9680200-9681200	Weak transcription	Liver	Liver
45	chr9:9681200-9681400	Enhancers	Liver	Liver
46	chr9:9714000-9714800	Enhancers	Fetal Kidney	kidney
47	chr9:9718200-9718400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:9718400-9719200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:9718600-9720000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:9719000-9719800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell

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