Variant report

Variant	nsv613638
Chromosome Location	chr9:14539758-14550138
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	chr9:14536696..14538433-chr9:14540578..14543493,2	MCF-7	breast:
2	chr9:14534376..14536312-chr9:14538392..14540360,2	K562	blood:

Extended variants
information (count: 452 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10961560	chr9:14539758-14539759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116959381	chr9:14539786-14539787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563832219	chr9:14539787-14539788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75031008	chr9:14539799-14539800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573712668	chr9:14539816-14539817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10114240	chr9:14539850-14539851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373696771	chr9:14539858-14539859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142879201	chr9:14539881-14539882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4741395	chr9:14539899-14539900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10810176	chr9:14539909-14539910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4741396	chr9:14539938-14539939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs537060284	chr9:14539990-14539991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184024333	chr9:14540048-14540049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188017370	chr9:14540058-14540059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536514989	chr9:14540079-14540080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150978182	chr9:14540083-14540084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573098910	chr9:14540094-14540095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545218523	chr9:14540116-14540117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538870333	chr9:14540130-14540131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76575944	chr9:14540132-14540133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558381325	chr9:14540142-14540143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575254545	chr9:14540263-14540264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191368045	chr9:14540276-14540277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537518717	chr9:14540314-14540315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560906138	chr9:14540315-14540316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574080026	chr9:14540317-14540318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542942150	chr9:14540318-14540319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559617361	chr9:14540319-14540320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185612110	chr9:14540320-14540321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551518716	chr9:14540323-14540324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386732918	chr9:14540325-14540326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557184265	chr9:14540326-14540327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190533525	chr9:14540331-14540332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181815673	chr9:14540333-14540334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531005229	chr9:14540349-14540350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186976896	chr9:14540352-14540353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4741397	chr9:14540362-14540363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575928163	chr9:14540376-14540377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544337591	chr9:14540382-14540383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567684256	chr9:14540392-14540393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4741398	chr9:14540444-14540445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4741399	chr9:14540474-14540475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs4741400	chr9:14540491-14540492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538841939	chr9:14540538-14540539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7847421	chr9:14540539-14540540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs528831547	chr9:14540597-14540598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7847342	chr9:14540625-14540626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs189077940	chr9:14540626-14540627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372758465	chr9:14540636-14540637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10810177	chr9:14540712-14540713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14532800-14541200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:14534600-14541200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:14534800-14541200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr9:14535400-14541200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:14535400-14541200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:14535400-14541600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:14535400-14542200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:14537000-14541200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:14537600-14547600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:14538800-14541000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr9:14538800-14541400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:14538800-14541400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:14538800-14541600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:14538800-14541600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:14539200-14541200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:14539200-14542600	Weak transcription	K562	blood
17	chr9:14539400-14541200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:14541000-14543200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr9:14541200-14542800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:14541200-14542800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:14541200-14543000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:14541200-14543000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr9:14541200-14543000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr9:14541200-14543000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:14541200-14543200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr9:14541200-14543200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr9:14541400-14542800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:14541400-14543000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr9:14541600-14542200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr9:14541600-14542800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:14541600-14542800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:14541600-14543000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:14541600-14543200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:14542200-14542600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:14542200-14542600	Enhancers	Brain Germinal Matrix	brain
36	chr9:14542400-14542600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr9:14542600-14543800	Enhancers	K562	blood
38	chr9:14542800-14546800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:14542800-14546800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:14543000-14543400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:14543000-14544600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr9:14543000-14546200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr9:14543000-14546400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr9:14543200-14546200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr9:14543200-14546400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr9:14543200-14546600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr9:14543400-14543600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr9:14543600-14545000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr9:14544600-14544800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:14544600-14546600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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