Variant report

Variant	esv3412126
Chromosome Location	chr18:9560690-9561109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:9560918-9561177	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9556869..9560926-chr18:9561535..9563194,3	K562	blood:
2	chr18:9550057..9552721-chr18:9560835..9563453,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIEZO2-15	chr18:9561046-9561395	expReg_chr18_591_-

Variant related genes	Relation type
PPP4R1	TF binding region
ENSG00000154845	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193053018	chr18:9560700-9560701	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs185072413	chr18:9560728-9560729	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549195444	chr18:9560754-9560755	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567518634	chr18:9560816-9560817	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372050689	chr18:9560832-9560833	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375289907	chr18:9560839-9560840	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189971545	chr18:9560846-9560847	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142342981	chr18:9560847-9560848	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113278167	chr18:9560925-9560926	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539444605	chr18:9560981-9560982	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs12970116	chr18:9560990-9560991	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573128026	chr18:9561007-9561008	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs372055059	chr18:9561034-9561035	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181157850	chr18:9561054-9561055	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs7227394	chr18:9561067-9561068	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183799594	chr18:9561070-9561071	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
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
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9544000-9570200	Strong transcription	Fetal Intestine Large	intestine
2	chr18:9544000-9575600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr18:9544200-9563600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:9544600-9561600	Strong transcription	Stomach Smooth Muscle	stomach
5	chr18:9544600-9563600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr18:9544600-9563600	Strong transcription	Brain Cingulate Gyrus	brain
7	chr18:9544600-9564200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr18:9544600-9564200	Strong transcription	Placenta	Placenta
9	chr18:9544800-9562000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr18:9544800-9564600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:9544800-9565000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr18:9544800-9572200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr18:9544800-9572400	Strong transcription	Primary T cells from cord blood	blood
14	chr18:9545000-9562600	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr18:9545000-9563800	Strong transcription	Osteobl	bone
16	chr18:9545000-9564200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:9545000-9564200	Strong transcription	Adipose Nuclei	Adipose
18	chr18:9545000-9564400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:9545200-9561400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr18:9545200-9561600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr18:9545200-9563400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr18:9545200-9572600	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr18:9545400-9564000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr18:9545800-9563600	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr18:9545800-9564200	Strong transcription	Fetal Thymus	thymus
26	chr18:9545800-9565000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr18:9545800-9570200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr18:9545800-9583600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr18:9545800-9595200	Strong transcription	Dnd41	blood
30	chr18:9546000-9563800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr18:9546200-9564200	Strong transcription	Left Ventricle	heart
32	chr18:9546400-9563600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr18:9547000-9564000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:9549000-9562600	Strong transcription	Rectal Smooth Muscle	rectum
35	chr18:9549600-9581800	Weak transcription	Psoas Muscle	Psoas
36	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr18:9552200-9565800	Strong transcription	HSMM	muscle
38	chr18:9552200-9565800	Strong transcription	NH-A	brain
39	chr18:9552400-9560800	Strong transcription	Colon Smooth Muscle	Colon
40	chr18:9552400-9564200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr18:9553000-9563600	Strong transcription	Fetal Lung	lung
42	chr18:9553000-9572400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr18:9553000-9573000	Strong transcription	Fetal Muscle Leg	muscle
44	chr18:9553000-9573600	Strong transcription	NHDF-Ad	bronchial
45	chr18:9553200-9560800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr18:9553200-9564400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr18:9553200-9572600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr18:9553200-9575800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr18:9553400-9563600	Strong transcription	Fetal Intestine Small	intestine
50	chr18:9553400-9565200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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