Variant report

Variant	esv3372035
Chromosome Location	chr18:13260052-13264450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:13263986..13266782-chr18:13271778..13275109,3	MCF-7	breast:
2	chr18:13246195..13248489-chr18:13263475..13266169,2	MCF-7	breast:
3	chr18:13261882..13264045-chr18:13540401..13542351,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168675	chromatin interactions

Extended variants
information (count: 239 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533166227	chr18:13260095-13260096	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551560694	chr18:13260105-13260106	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566775188	chr18:13260148-13260149	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9951177	chr18:13260163-13260164	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs181230749	chr18:13260164-13260165	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184928642	chr18:13260173-13260174	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537416739	chr18:13260195-13260196	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112455870	chr18:13260236-13260237	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577627996	chr18:13260349-13260350	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146500051	chr18:13260361-13260362	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111855590	chr18:13260414-13260415	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546383895	chr18:13260431-13260432	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189059274	chr18:13260434-13260435	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77774373	chr18:13260473-13260474	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181441008	chr18:13260517-13260518	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76970841	chr18:13260597-13260598	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140984238	chr18:13260607-13260608	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544244787	chr18:13260613-13260614	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34725841	chr18:13260622-13260623	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9951616	chr18:13260625-13260626	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533222984	chr18:13260669-13260670	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576554780	chr18:13260700-13260701	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551642883	chr18:13260730-13260731	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9951708	chr18:13260742-13260743	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527614866	chr18:13260779-13260780	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148328577	chr18:13260787-13260788	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186126106	chr18:13260869-13260870	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560437262	chr18:13260904-13260905	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141452521	chr18:13260908-13260909	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190924530	chr18:13260935-13260936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555659640	chr18:13260980-13260981	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571370480	chr18:13261043-13261044	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150402929	chr18:13261049-13261050	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527658696	chr18:13261069-13261070	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573969548	chr18:13261083-13261084	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35512920	chr18:13261084-13261085	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377301445	chr18:13261111-13261112	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182231661	chr18:13261112-13261113	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75951263	chr18:13261166-13261167	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375470279	chr18:13261223-13261224	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28499003	chr18:13261232-13261233	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186022430	chr18:13261257-13261258	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574209783	chr18:13261274-13261275	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544597062	chr18:13261298-13261299	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138118404	chr18:13261313-13261314	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578073748	chr18:13261342-13261343	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531759732	chr18:13261378-13261379	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368183570	chr18:13261473-13261474	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144143308	chr18:13261495-13261496	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560543638	chr18:13261551-13261552	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13233000-13260200	Weak transcription	Colonic Mucosa	Colon
2	chr18:13243200-13260200	Weak transcription	Aorta	Aorta
3	chr18:13243600-13278200	Weak transcription	Dnd41	blood
4	chr18:13253000-13267800	Weak transcription	Gastric	stomach
5	chr18:13254200-13260200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:13256200-13262400	Enhancers	Brain Anterior Caudate	brain
7	chr18:13256800-13268400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr18:13258600-13262200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr18:13258600-13262400	Enhancers	Fetal Heart	heart
10	chr18:13258600-13268600	Enhancers	Right Ventricle	heart
11	chr18:13258800-13260400	Enhancers	HUVEC	blood vessel
12	chr18:13258800-13260800	Enhancers	Adipose Nuclei	Adipose
13	chr18:13258800-13261200	Enhancers	Psoas Muscle	Psoas
14	chr18:13258800-13261800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr18:13258800-13262000	Enhancers	Brain Cingulate Gyrus	brain
16	chr18:13258800-13262000	Enhancers	Fetal Muscle Leg	muscle
17	chr18:13258800-13262200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr18:13258800-13262200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr18:13258800-13262200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr18:13258800-13262200	Enhancers	Left Ventricle	heart
21	chr18:13258800-13262400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr18:13258800-13262400	Enhancers	Colon Smooth Muscle	Colon
23	chr18:13258800-13262400	Enhancers	Fetal Lung	lung
24	chr18:13258800-13262400	Enhancers	Placenta	Placenta
25	chr18:13258800-13262400	Enhancers	Spleen	Spleen
26	chr18:13258800-13262400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr18:13259000-13260200	Enhancers	Stomach Smooth Muscle	stomach
28	chr18:13259000-13260400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:13259000-13260800	Enhancers	Liver	Liver
30	chr18:13259000-13261600	Genic enhancers	Thymus	Thymus
31	chr18:13259000-13261800	Enhancers	Primary T cells from cord blood	blood
32	chr18:13259000-13262000	Enhancers	Fetal Stomach	stomach
33	chr18:13259000-13262200	Enhancers	Brain Hippocampus Middle	brain
34	chr18:13259000-13262200	Enhancers	Right Atrium	heart
35	chr18:13259200-13261200	Enhancers	Fetal Thymus	thymus
36	chr18:13259200-13262000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr18:13259200-13262600	Enhancers	Lung	lung
38	chr18:13259200-13280000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr18:13259400-13260600	Weak transcription	Fetal Kidney	kidney
40	chr18:13259400-13261800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr18:13259600-13260600	Enhancers	Fetal Brain Female	brain
42	chr18:13259600-13261200	Enhancers	Pancreas	Pancrea
43	chr18:13259600-13262200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr18:13259800-13260200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr18:13259800-13260400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:13259800-13261200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr18:13259800-13261200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr18:13259800-13261400	Enhancers	Duodenum Mucosa	Duodenum
49	chr18:13259800-13261600	Enhancers	Brain Germinal Matrix	brain
50	chr18:13259800-13262000	Enhancers	Primary T cells fromperipheralblood	blood

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