Variant report

Variant	esv3365708
Chromosome Location	chr13:111188351-111190349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111100852..111102646-chr13:111187472..111189317,2	MCF-7	breast:
2	chr13:111190119..111192322-chr13:111194362..111196366,2	MCF-7	breast:
3	chr13:111189757..111192699-chr13:111197488..111200352,2	MCF-7	breast:
4	chr13:111189062..111191604-chr13:111205599..111208435,2	MCF-7	breast:

Extended variants
information (count: 116 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547807101	chr13:111188361-111188362	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs144813804	chr13:111188377-111188378	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs189673307	chr13:111188378-111188379	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs551770055	chr13:111188383-111188384	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs115655865	chr13:111188385-111188386	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537550587	chr13:111188399-111188400	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369558247	chr13:111188409-111188410	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs555936445	chr13:111188413-111188414	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs116173496	chr13:111188420-111188421	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs535724822	chr13:111188421-111188422	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs575777533	chr13:111188427-111188428	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs553810212	chr13:111188430-111188431	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs572328634	chr13:111188456-111188457	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs34671922	chr13:111188458-111188459	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs546186546	chr13:111188465-111188466	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs564484547	chr13:111188482-111188483	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs576561712	chr13:111188496-111188497	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141628765	chr13:111188507-111188508	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181651098	chr13:111188508-111188509	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs9559840	chr13:111188520-111188521	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs452294	chr13:111188544-111188545	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs422183	chr13:111188577-111188578	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546547523	chr13:111188581-111188582	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533682651	chr13:111188586-111188587	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs560526305	chr13:111188587-111188588	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs369376422	chr13:111188595-111188596	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150544098	chr13:111188613-111188614	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs537544512	chr13:111188632-111188633	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs549493389	chr13:111188642-111188643	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs116715566	chr13:111188658-111188659	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs535259658	chr13:111188665-111188666	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs7339017	chr13:111188728-111188729	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs555184812	chr13:111188745-111188746	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs572197480	chr13:111188748-111188749	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs539751674	chr13:111188755-111188756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs558170590	chr13:111188827-111188828	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576537674	chr13:111188855-111188856	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543921905	chr13:111188866-111188867	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555546125	chr13:111188895-111188896	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376767155	chr13:111188901-111188902	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185899300	chr13:111188903-111188904	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75347166	chr13:111188921-111188922	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189143876	chr13:111188922-111188923	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78566237	chr13:111188947-111188948	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181862159	chr13:111188986-111188987	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139256872	chr13:111188999-111189000	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531239776	chr13:111189008-111189009	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549380938	chr13:111189047-111189048	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11420274	chr13:111189060-111189061	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56141664	chr13:111189069-111189070	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111160800-111209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:111167000-111190800	Weak transcription	Fetal Kidney	kidney
3	chr13:111180200-111189400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr13:111180400-111189600	Weak transcription	Colonic Mucosa	Colon
5	chr13:111181400-111190800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:111182000-111192200	Weak transcription	Fetal Heart	heart
7	chr13:111182200-111193400	Weak transcription	Aorta	Aorta
8	chr13:111182400-111189800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr13:111182400-111193800	Weak transcription	HepG2	liver
10	chr13:111182400-111203600	Weak transcription	Brain Substantia Nigra	brain
11	chr13:111183000-111191400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr13:111183400-111190400	Strong transcription	Fetal Intestine Small	intestine
13	chr13:111183600-111188400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr13:111184000-111193200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:111184000-111199600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr13:111184000-111211800	Weak transcription	HMEC	breast
17	chr13:111184200-111189600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:111184200-111193200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr13:111184200-111196400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr13:111184200-111197000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr13:111184600-111209800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:111185200-111188600	Enhancers	Placenta	Placenta
23	chr13:111185800-111190400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr13:111185800-111191000	Weak transcription	Stomach Mucosa	stomach
25	chr13:111185800-111193600	Weak transcription	Colon Smooth Muscle	Colon
26	chr13:111186200-111188800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr13:111186400-111188400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:111186400-111193200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:111186600-111192400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr13:111186800-111188400	Weak transcription	Gastric	stomach
31	chr13:111186800-111190000	Weak transcription	Ovary	ovary
32	chr13:111186800-111191400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr13:111186800-111192200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr13:111187000-111189600	Weak transcription	Liver	Liver
35	chr13:111187600-111188600	Strong transcription	Lung	lung
36	chr13:111187600-111188800	Genic enhancers	Pancreas	Pancrea
37	chr13:111187600-111189000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr13:111187600-111189000	Strong transcription	Fetal Intestine Large	intestine
39	chr13:111187600-111189000	Strong transcription	Fetal Stomach	stomach
40	chr13:111187800-111188400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr13:111187800-111188600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr13:111187800-111189000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr13:111188000-111188400	Enhancers	Adipose Nuclei	Adipose
44	chr13:111188000-111188600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr13:111188000-111188800	Enhancers	Primary T cells fromperipheralblood	blood
46	chr13:111188000-111188800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr13:111188000-111188800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr13:111188000-111189000	Enhancers	Fetal Muscle Leg	muscle
49	chr13:111188000-111189000	Enhancers	Right Ventricle	heart
50	chr13:111188000-111189200	Enhancers	Left Ventricle	heart

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