Variant report

Variant	esv3394263
Chromosome Location	chr9:101027594-101033575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100880329..100883206-chr9:101025996..101028168,2	MCF-7	breast:
2	chr9:101017245..101019908-chr9:101024974..101027737,3	MCF-7	breast:
3	chr9:100944487..100947115-chr9:101025463..101028083,2	MCF-7	breast:
4	chr9:101022063..101024175-chr9:101026064..101028233,2	K562	blood:

Variant related genes	Relation type
ENSG00000106785	chromatin interactions
ENSG00000095383	chromatin interactions

Extended variants
information (count: 309 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555195965	chr9:101027678-101027679	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550357606	chr9:101027708-101027709	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543109917	chr9:101027758-101027759	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563069210	chr9:101027769-101027770	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576560476	chr9:101027773-101027774	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148017350	chr9:101027782-101027783	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552050432	chr9:101027794-101027795	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559520183	chr9:101027806-101027807	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535668261	chr9:101027841-101027842	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs141665201	chr9:101027937-101027938	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568464548	chr9:101027946-101027947	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs62574279	chr9:101027966-101027967	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs138503758	chr9:101028063-101028064	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570924469	chr9:101028089-101028090	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10818699	chr9:101028095-101028096	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146404502	chr9:101028102-101028103	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533522723	chr9:101028127-101028128	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573393353	chr9:101028134-101028135	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541003859	chr9:101028157-101028158	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535763853	chr9:101028158-101028159	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139408941	chr9:101028191-101028192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150043026	chr9:101028260-101028261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543046211	chr9:101028282-101028283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562957974	chr9:101028308-101028309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576833689	chr9:101028339-101028340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34333632	chr9:101028397-101028398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201784077	chr9:101028398-101028399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34890886	chr9:101028401-101028402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200185253	chr9:101028445-101028446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545885706	chr9:101028448-101028449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544055711	chr9:101028489-101028490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556345755	chr9:101028495-101028496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200672325	chr9:101028502-101028503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201407907	chr9:101028517-101028518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57583651	chr9:101028553-101028554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs193178746	chr9:101028596-101028597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369375121	chr9:101028612-101028613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10985650	chr9:101028625-101028626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530842594	chr9:101028627-101028628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11506932	chr9:101028641-101028642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570863069	chr9:101028658-101028659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539509286	chr9:101028661-101028662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1212733	chr9:101028688-101028689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144674286	chr9:101028704-101028705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566949125	chr9:101028717-101028718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71501855	chr9:101028758-101028759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs67254957	chr9:101028796-101028797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111245917	chr9:101028819-101028820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374122165	chr9:101028850-101028851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113571102	chr9:101028862-101028863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101024800-101027600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:101025400-101028400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:101026200-101027800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:101026400-101028400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:101026400-101036000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:101026800-101027600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr9:101027000-101027600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr9:101027000-101027600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:101027200-101028400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:101027200-101028400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:101027200-101028400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:101027400-101027600	Enhancers	K562	blood
13	chr9:101027600-101028200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:101027600-101028600	Weak transcription	K562	blood
15	chr9:101027600-101030000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:101027800-101031200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:101028200-101028400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:101028200-101037000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:101028400-101031200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:101028400-101033600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr9:101028400-101033800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr9:101028400-101033800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:101029200-101030400	Enhancers	Hela-S3	cervix
24	chr9:101030000-101030600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:101030000-101031400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:101030400-101032200	Weak transcription	Hela-S3	cervix
27	chr9:101030600-101031000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:101031000-101031600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:101031200-101031400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:101031200-101033000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr9:101031400-101031600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:101031400-101032800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:101031400-101033200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:101031600-101032600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr9:101032000-101032200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:101032200-101032400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:101032200-101033000	Flanking Active TSS	Hela-S3	cervix
38	chr9:101032400-101032600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr9:101032400-101033800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:101032600-101032800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr9:101032600-101032800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:101032800-101033200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr9:101032800-101033400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:101032800-101033800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:101033000-101033400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr9:101033000-101033800	Enhancers	Hela-S3	cervix
47	chr9:101033200-101033600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:101033200-101034400	Enhancers	K562	blood
49	chr9:101033200-101036000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:101033400-101034000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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