Variant report

Variant	esv3382415
Chromosome Location	chr18:29454644-29454953
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	chr18:29454611-29454779	K562	blood:	n/a	n/a
2	POLR2A	chr18:29454557-29454679	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29452756..29454913-chr18:29671972..29673873,2	MCF-7	breast:
2	chr18:29446087..29447957-chr18:29452902..29455366,2	K562	blood:

Variant related genes	Relation type
TRAPPC8	TF binding region
ENSG00000134758	chromatin interactions
ENSG00000265008	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2276145	chr18:29454644-29454645	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117188112	chr18:29454680-29454681	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs374620555	chr18:29454698-29454699	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs77601127	chr18:29454728-29454729	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs555652337	chr18:29454736-29454737	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs368032052	chr18:29454754-29454755	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs574202408	chr18:29454760-29454761	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs149181913	chr18:29454774-29454775	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs2276144	chr18:29454781-29454782	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs183941491	chr18:29454810-29454811	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs16962539	chr18:29454837-29454838	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550211536	chr18:29454841-29454842	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs562175589	chr18:29454872-29454873	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2276143	chr18:29454899-29454900	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530995272	chr18:29454946-29454947	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
3	chr18:29408000-29460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:29409000-29456600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:29409800-29466600	Weak transcription	Gastric	stomach
7	chr18:29413800-29456600	Weak transcription	Spleen	Spleen
8	chr18:29415800-29461800	Weak transcription	Fetal Heart	heart
9	chr18:29416200-29456600	Weak transcription	Aorta	Aorta
10	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:29418400-29454800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:29418400-29470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:29418600-29456600	Weak transcription	Right Ventricle	heart
14	chr18:29418800-29454800	Weak transcription	Colonic Mucosa	Colon
15	chr18:29418800-29456600	Weak transcription	NHEK	skin
16	chr18:29419000-29460400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:29419000-29461800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr18:29419400-29458600	Weak transcription	NHLF	lung
19	chr18:29421800-29455400	Strong transcription	Liver	Liver
20	chr18:29422800-29455200	Weak transcription	Ovary	ovary
21	chr18:29425800-29456600	Weak transcription	Fetal Brain Female	brain
22	chr18:29431800-29461800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr18:29431800-29499000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr18:29432200-29455400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr18:29432400-29454800	Weak transcription	Brain Angular Gyrus	brain
27	chr18:29432400-29455200	Weak transcription	Lung	lung
28	chr18:29432400-29461200	Weak transcription	Psoas Muscle	Psoas
29	chr18:29432400-29468200	Weak transcription	Small Intestine	intestine
30	chr18:29432400-29480000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr18:29432600-29481600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr18:29432600-29507600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
34	chr18:29433200-29455400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:29433600-29454800	Weak transcription	Thymus	Thymus
36	chr18:29434000-29459000	Weak transcription	Hela-S3	cervix
37	chr18:29434000-29460800	Weak transcription	A549	lung
38	chr18:29435400-29458800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr18:29437800-29456600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr18:29438000-29455400	Weak transcription	HSMMtube	muscle
41	chr18:29438000-29456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr18:29438200-29457800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr18:29438200-29458400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr18:29441200-29460400	Weak transcription	Brain Hippocampus Middle	brain
45	chr18:29443000-29455400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr18:29443000-29455400	Weak transcription	Pancreas	Pancrea
47	chr18:29443000-29456000	Strong transcription	HSMM	muscle
48	chr18:29443800-29456800	Weak transcription	Brain Germinal Matrix	brain
49	chr18:29444600-29455600	Strong transcription	HUVEC	blood vessel
50	chr18:29445000-29458200	Strong transcription	Fetal Intestine Large	intestine

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