Variant report

Variant	esv1133978
Chromosome Location	chr18:12437566-12437568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:12437446-12437606	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12427958..12434396-chr18:12436312..12440619,6	K562	blood:
2	chr18:12435991..12438957-chr18:12658317..12660163,2	MCF-7	breast:
3	chr18:12436425..12438277-chr18:12439040..12441425,2	MCF-7	breast:
4	chr18:12421209..12423248-chr18:12437108..12438890,2	MCF-7	breast:
5	chr18:12436823..12439176-chr18:12440236..12443079,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267199	TF binding region
ENSG00000267199	chromatin interactions
ENSG00000267108	chromatin interactions
ENSG00000256786	chromatin interactions
ENSG00000141391	chromatin interactions
ENSG00000128789	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 58 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3056883	chr18:12437567-12437568	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs71985943	chr18:12437568-12437569	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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	20435627	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12420600-12443600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr18:12421200-12443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr18:12421200-12447600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr18:12421200-12452800	Weak transcription	Colonic Mucosa	Colon
6	chr18:12421400-12444200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr18:12421800-12442400	Weak transcription	GM12878-XiMat	blood
8	chr18:12426600-12438600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:12428200-12440200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr18:12428200-12440600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr18:12428400-12439600	Weak transcription	Primary B cells from cord blood	blood
12	chr18:12428400-12443400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:12428600-12443800	Weak transcription	HSMMtube	muscle
14	chr18:12430800-12443400	Weak transcription	A549	lung
15	chr18:12431000-12438000	Weak transcription	HSMM	muscle
16	chr18:12431000-12443400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:12431000-12443600	Weak transcription	Fetal Heart	heart
18	chr18:12431000-12447600	Weak transcription	NH-A	brain
19	chr18:12431000-12449200	Weak transcription	Pancreas	Pancrea
20	chr18:12431200-12438800	Weak transcription	K562	blood
21	chr18:12431200-12443400	Weak transcription	Fetal Kidney	kidney
22	chr18:12431200-12447800	Weak transcription	NHEK	skin
23	chr18:12431400-12443400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:12432000-12443800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr18:12432600-12439000	Strong transcription	Fetal Stomach	stomach
26	chr18:12432600-12447000	Weak transcription	HMEC	breast
27	chr18:12433000-12438000	Weak transcription	Osteobl	bone
28	chr18:12433000-12441400	Weak transcription	Brain Substantia Nigra	brain
29	chr18:12433000-12441600	Weak transcription	NHDF-Ad	bronchial
30	chr18:12433000-12442800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr18:12433000-12443200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr18:12433000-12443600	Weak transcription	Fetal Brain Male	brain
33	chr18:12433000-12448800	Weak transcription	HUVEC	blood vessel
34	chr18:12433200-12441400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:12433200-12443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:12433200-12443400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr18:12433200-12443600	Weak transcription	Brain Angular Gyrus	brain
38	chr18:12433200-12444000	Weak transcription	Left Ventricle	heart
39	chr18:12433200-12444000	Weak transcription	Right Ventricle	heart
40	chr18:12433200-12449200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr18:12433200-12449200	Weak transcription	Gastric	stomach
42	chr18:12433200-12449200	Weak transcription	Spleen	Spleen
43	chr18:12433200-12450200	Weak transcription	Thymus	Thymus
44	chr18:12433200-12464600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr18:12433400-12443600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr18:12433400-12458600	Weak transcription	HepG2	liver
47	chr18:12434000-12437800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr18:12434200-12443600	Weak transcription	Fetal Intestine Large	intestine
49	chr18:12434200-12477000	Weak transcription	Esophagus	oesophagus
50	chr18:12434400-12439000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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