Variant report

Variant	esv3328640
Chromosome Location	chr9:85664319-85670608
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	chr9:85670132..85672799-chr9:85673818..85675715,2	MCF-7	breast:
2	chr9:85669834..85672672-chr9:85676087..85678737,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165105	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114932217	chr9:85664319-85664320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545321309	chr9:85664322-85664323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190202369	chr9:85664340-85664341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540495240	chr9:85664349-85664350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78687841	chr9:85664392-85664393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567219650	chr9:85664395-85664396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79813403	chr9:85664414-85664415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546323015	chr9:85664415-85664416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201121922	chr9:85664443-85664444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200712436	chr9:85664444-85664445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10687615	chr9:85664445-85664446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76764544	chr9:85664468-85664469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79100491	chr9:85664471-85664472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80144810	chr9:85664473-85664474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76751658	chr9:85664474-85664475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113201659	chr9:85664491-85664492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565913366	chr9:85664540-85664541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148617921	chr9:85664544-85664545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56729586	chr9:85664552-85664553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13284094	chr9:85664623-85664624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537023659	chr9:85664627-85664628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374138911	chr9:85664695-85664696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542843038	chr9:85664703-85664704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58188363	chr9:85664719-85664720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13284531	chr9:85664739-85664740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377760050	chr9:85664782-85664783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371142096	chr9:85664856-85664857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577904811	chr9:85664940-85664941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113042491	chr9:85665539-85665540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112356499	chr9:85665769-85665770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111381924	chr9:85665861-85665862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62561903	chr9:85666086-85666087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62561904	chr9:85666124-85666125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62561905	chr9:85666165-85666166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200710376	chr9:85666198-85666199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62561906	chr9:85666204-85666205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62561907	chr9:85666267-85666268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564372213	chr9:85666912-85666913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533339341	chr9:85667027-85667028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550106688	chr9:85667029-85667030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141613557	chr9:85667222-85667223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199968000	chr9:85667423-85667424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563387370	chr9:85667542-85667543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373251120	chr9:85667588-85667589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376084532	chr9:85667633-85667634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557352081	chr9:85667686-85667687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370805613	chr9:85667817-85667818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374092453	chr9:85667818-85667819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367943713	chr9:85667823-85667824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542222836	chr9:85667826-85667827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85644800-85670600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:85655200-85671400	Weak transcription	Fetal Intestine Small	intestine
3	chr9:85660400-85664400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr9:85663200-85664400	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr9:85663200-85676400	Weak transcription	Gastric	stomach
6	chr9:85663400-85670800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:85663600-85673400	Weak transcription	Stomach Mucosa	stomach
8	chr9:85663800-85671200	Weak transcription	A549	lung
9	chr9:85663800-85674200	Weak transcription	Pancreas	Pancrea
10	chr9:85664200-85664400	Enhancers	Right Ventricle	heart
11	chr9:85664400-85670400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:85664400-85671400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr9:85670200-85670400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr9:85670200-85670600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr9:85670400-85670600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr9:85670400-85670800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr9:85670400-85671200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr9:85670600-85670800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr9:85670600-85670800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr9:85670600-85672600	Enhancers	Fetal Intestine Large	intestine

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