Variant report

Variant	esv2603527
Chromosome Location	chr9:85546269-85547738
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	chr9:84300821..84303529-chr9:85547093..85551016,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196781	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192598317	chr9:85546280-85546281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140281384	chr9:85546338-85546339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570976738	chr9:85546339-85546340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7871607	chr9:85546352-85546353	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550068149	chr9:85546373-85546374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367992300	chr9:85546399-85546400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7871725	chr9:85546402-85546403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs78566001	chr9:85546409-85546410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553915259	chr9:85546419-85546420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144025727	chr9:85546424-85546425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539573078	chr9:85546502-85546503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144947393	chr9:85546545-85546546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73465550	chr9:85546563-85546564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73465554	chr9:85546606-85546607	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs79872686	chr9:85546609-85546610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560431579	chr9:85546623-85546624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149074539	chr9:85546680-85546681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541010683	chr9:85546689-85546690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559113642	chr9:85546737-85546738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533016355	chr9:85546853-85546854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12377618	chr9:85546882-85546883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544791259	chr9:85546883-85546884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73465555	chr9:85546907-85546908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs74344348	chr9:85546917-85546918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143151728	chr9:85546923-85546924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184805130	chr9:85546933-85546934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201692916	chr9:85546959-85546960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35381408	chr9:85546960-85546961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77999496	chr9:85546972-85546973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11419274	chr9:85546973-85546974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189283414	chr9:85546992-85546993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547744853	chr9:85547006-85547007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28646242	chr9:85547007-85547008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7860062	chr9:85547017-85547018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181896544	chr9:85547044-85547045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570211209	chr9:85547085-85547086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537234244	chr9:85547130-85547131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs114787522	chr9:85547206-85547207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs573960946	chr9:85547210-85547211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542169434	chr9:85547248-85547249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534633134	chr9:85547326-85547327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552897973	chr9:85547337-85547338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs28561588	chr9:85547338-85547339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545040155	chr9:85547340-85547341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141466483	chr9:85547348-85547349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147032063	chr9:85547357-85547358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543591356	chr9:85547362-85547363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186778301	chr9:85547365-85547366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs4098538	chr9:85547376-85547377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576029327	chr9:85547384-85547385	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Pancreatic cancer	17952125	CNVD
XY gonadal dysgenesis	20685758	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85539000-85549600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:85540000-85549400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:85544200-85547400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:85546400-85546600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:85547200-85547400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:85547200-85547400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:85547400-85549800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:85547400-85549800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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