Variant report

Variant	esv2762819
Chromosome Location	chr9:85376276-85384244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:84803734..84804592-chr9:85378132..85378774,2	MCF-7	breast:
2	chr9:85378321..85379186-chr9:85419647..85420426,2	MCF-7	breast:
3	chr9:85147309..85148072-chr9:85377951..85379198,3	MCF-7	breast:
4	chr9:85163777..85164957-chr9:85378018..85379206,5	MCF-7	breast:
5	chr9:85378733..85379365-chr9:85527221..85527881,2	MCF-7	breast:

Extended variants
information (count: 323 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:323 , 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	rs7853662	chr9:85376277-85376278	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540853535	chr9:85376281-85376282	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184692897	chr9:85376328-85376329	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199962294	chr9:85376333-85376334	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141270621	chr9:85376334-85376335	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10634376	chr9:85376335-85376336	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577485031	chr9:85376338-85376339	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141616116	chr9:85376390-85376391	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73477961	chr9:85376425-85376426	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533711976	chr9:85376441-85376442	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529715434	chr9:85376466-85376467	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187617614	chr9:85376476-85376477	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78770579	chr9:85376509-85376510	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527575786	chr9:85376524-85376525	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552377206	chr9:85376553-85376554	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564150935	chr9:85376563-85376564	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146224772	chr9:85376566-85376567	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs750349	chr9:85376571-85376572	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7870881	chr9:85376641-85376642	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536285233	chr9:85376651-85376652	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139212917	chr9:85376652-85376653	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567180104	chr9:85376664-85376665	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534245998	chr9:85376679-85376680	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562592185	chr9:85376686-85376687	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73477963	chr9:85376728-85376729	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192576570	chr9:85376767-85376768	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538393787	chr9:85376781-85376782	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542044780	chr9:85376782-85376783	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562338117	chr9:85376867-85376868	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13299160	chr9:85376886-85376887	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574577003	chr9:85376935-85376936	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184992043	chr9:85376938-85376939	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559872483	chr9:85376956-85376957	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13298168	chr9:85376995-85376996	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12238605	chr9:85377040-85377041	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545798343	chr9:85377058-85377059	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs564367282	chr9:85377101-85377102	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs544312699	chr9:85377117-85377118	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs372980104	chr9:85377222-85377223	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs531408253	chr9:85377223-85377224	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs7871433	chr9:85377227-85377228	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs142528230	chr9:85377228-85377229	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532962276	chr9:85377251-85377252	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530108992	chr9:85377255-85377256	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs548633413	chr9:85377259-85377260	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs546664935	chr9:85377358-85377359	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs566767363	chr9:85377385-85377386	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs189609662	chr9:85377391-85377392	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs552596868	chr9:85377416-85377417	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs115332794	chr9:85377447-85377448	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	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
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85372400-85376400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr9:85372800-85377400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:85372800-85377600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:85374400-85391000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:85375600-85376400	Enhancers	Dnd41	blood
6	chr9:85375600-85378200	Enhancers	Thymus	Thymus
7	chr9:85375600-85379600	Enhancers	Fetal Thymus	thymus
8	chr9:85376200-85378600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:85376400-85378600	Weak transcription	Dnd41	blood
10	chr9:85376400-85379600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:85377000-85377200	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr9:85377000-85380600	Enhancers	Primary hematopoietic stem cells	blood
13	chr9:85377200-85377400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr9:85377200-85377600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:85377200-85377800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:85377200-85378000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr9:85377200-85381200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:85377200-85381200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:85377400-85377600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:85377400-85378000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:85377400-85391200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr9:85377600-85377800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr9:85377600-85378000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr9:85377800-85378000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr9:85378000-85378400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr9:85378000-85390800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr9:85378200-85378600	Weak transcription	Thymus	Thymus
28	chr9:85378400-85378600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr9:85378400-85379800	Enhancers	Fetal Stomach	stomach
30	chr9:85378600-85378800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr9:85378600-85379600	Enhancers	Thymus	Thymus
32	chr9:85378600-85381000	Enhancers	Dnd41	blood
33	chr9:85378600-85382800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr9:85378800-85379000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr9:85379000-85381200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr9:85379600-85383400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr9:85382800-85383000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr9:85383400-85383800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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