Variant report

Variant	esv3442917
Chromosome Location	chr18:13232044-13232389
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	chr18:13226398..13229560-chr18:13232125..13236070,6	MCF-7	breast:
2	chr18:13217269..13219226-chr18:13231988..13233808,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168675	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191721774	chr18:13232054-13232055	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184044242	chr18:13232078-13232079	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75384102	chr18:13232097-13232098	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568937489	chr18:13232136-13232137	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549900566	chr18:13232141-13232142	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116589980	chr18:13232166-13232167	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539986909	chr18:13232169-13232170	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs4797744	chr18:13232203-13232204	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567178457	chr18:13232205-13232206	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs80109538	chr18:13232208-13232209	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77879598	chr18:13232215-13232216	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4797745	chr18:13232243-13232244	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs79236495	chr18:13232254-13232255	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4797746	chr18:13232286-13232287	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577778781	chr18:13232325-13232326	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545162108	chr18:13232361-13232362	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560067382	chr18:13232367-13232368	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572339112	chr18:13232385-13232386	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13223400-13232600	Weak transcription	Fetal Intestine Large	intestine
2	chr18:13223400-13235400	Weak transcription	Fetal Kidney	kidney
3	chr18:13223600-13232200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr18:13223600-13235600	Weak transcription	Fetal Intestine Small	intestine
5	chr18:13223600-13241400	Weak transcription	Aorta	Aorta
6	chr18:13223800-13232400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:13223800-13234200	Weak transcription	Liver	Liver
8	chr18:13223800-13259800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr18:13224000-13234800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr18:13224000-13235400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:13224000-13259800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr18:13224200-13233400	Weak transcription	HepG2	liver
13	chr18:13224400-13232200	Weak transcription	Adipose Nuclei	Adipose
14	chr18:13224400-13232200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr18:13224400-13232400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr18:13224400-13234000	Weak transcription	Pancreas	Pancrea
17	chr18:13224400-13234600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr18:13224400-13235400	Weak transcription	Colon Smooth Muscle	Colon
19	chr18:13224400-13235600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr18:13224400-13242600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr18:13224400-13245400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr18:13224400-13259800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr18:13225600-13232600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:13228200-13232800	Weak transcription	Esophagus	oesophagus
25	chr18:13228400-13232200	Weak transcription	Spleen	Spleen
26	chr18:13229400-13243000	Weak transcription	Dnd41	blood
27	chr18:13229800-13233000	Weak transcription	Primary T cells from cord blood	blood
28	chr18:13230400-13232600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr18:13230400-13232600	Strong transcription	Thymus	Thymus
30	chr18:13230600-13240800	Enhancers	Fetal Brain Male	brain
31	chr18:13231000-13233000	Strong transcription	Fetal Thymus	thymus
32	chr18:13231200-13233400	Enhancers	Fetal Muscle Leg	muscle
33	chr18:13231400-13234200	Enhancers	Fetal Heart	heart
34	chr18:13231600-13232400	Enhancers	Brain Hippocampus Middle	brain
35	chr18:13231800-13232400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr18:13231800-13233400	Enhancers	Brain Germinal Matrix	brain
37	chr18:13231800-13233600	Enhancers	Fetal Lung	lung
38	chr18:13231800-13234600	Enhancers	Left Ventricle	heart
39	chr18:13231800-13234800	Enhancers	Right Ventricle	heart
40	chr18:13232000-13232200	Enhancers	Brain Cingulate Gyrus	brain
41	chr18:13232000-13232200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr18:13232000-13232200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr18:13232000-13232400	Enhancers	Brain Angular Gyrus	brain
44	chr18:13232000-13232400	Enhancers	Brain Anterior Caudate	brain
45	chr18:13232000-13232400	Enhancers	Brain Substantia Nigra	brain
46	chr18:13232000-13232400	Enhancers	Fetal Brain Female	brain
47	chr18:13232000-13232400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr18:13232000-13232800	Enhancers	Psoas Muscle	Psoas
49	chr18:13232000-13233000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr18:13232000-13233200	Enhancers	Right Atrium	heart

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