Variant report

Variant	esv2577449
Chromosome Location	chr18:29262076-29263295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr18:29262784-29263081	GM12878	blood:	n/a	n/a
2	CHD1	chr18:29262109-29262447	GM12878	blood:	n/a	n/a
3	NRF1	chr18:29261991-29262178	GM12878	blood:	n/a	n/a
4	POLR2A	chr18:29262931-29263437	GM12878	blood:	n/a	n/a
5	RUNX3	chr18:29262408-29262761	GM12878	blood:	n/a	n/a
6	TBP	chr18:29262879-29262895	GM12878	blood:	n/a	n/a
7	TBP	chr18:29263189-29263802	GM12878	blood:	n/a	chr18:29263250-29263261
8	ZNF384	chr18:29262433-29262649	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:29262121-29262171	HEEpiC	esophagus:	n/a
2	chr18:29262121-29262171	U87	brain:	n/a
3	chr18:29262121-29262171	GM12878	blood:	n/a
4	chr18:29262121-29262171	MCF-7	breast:	n/a
5	chr18:29262121-29262171	HRCEpiC	kidney:	n/a
6	chr18:29262121-29262171	HPAEpiC	pulmonary alveolar:	n/a
7	chr18:29262121-29262171	LNCaP	prostate:	n/a
8	chr18:29262121-29262171	NB4	blood:	n/a
9	chr18:29262121-29262171	AG04450	lung:	fetal
10	chr18:29262121-29262171	AG09319	gingival:	n/a
11	chr18:29262121-29262171	NT2-D1	testis:	n/a
12	chr18:29262121-29262171	HepG2	liver:	n/a
13	chr18:29262121-29262171	MCF10A-Er-Src	breast:	n/a
14	chr18:29262121-29262171	IMR90	lung:	fetal
15	chr18:29262121-29262171	AG04449	skin:	fetal
16	chr18:29262121-29262171	GM06990	blood:	n/a
17	chr18:29262121-29262171	HIPEpiC	eye:	n/a
18	chr18:29262121-29262171	GM19239	blood:	n/a
19	chr18:29262121-29262171	GM12892	blood:	n/a
20	chr18:29262121-29262171	K562	blood:	n/a
21	chr18:29262121-29262171	NHDF-neo	bronchial:	n/a
22	chr18:29262121-29262171	SAEC	small airway:	n/a
23	chr18:29262121-29262171	HMEC	breast:	n/a
24	chr18:29262121-29262171	HEK293	kidney:	embryo
25	chr18:29262121-29262171	BJ	skin:	n/a
26	chr18:29262121-29262171	HCT-116	colon:	n/a
27	chr18:29262121-29262171	Hela-S3	cervix:	n/a
28	chr18:29262121-29262171	ovcar-3	ovarian:	n/a
29	chr18:29262121-29262171	PFSK-1	brain:	n/a
30	chr18:29262121-29262171	HRPEpiC	eye:	n/a
31	chr18:29262121-29262171	HUVEC	blood vessel:	n/a
32	chr18:29262121-29262171	NH-A	brain:	n/a
33	chr18:29262121-29262171	CMK	blood:	n/a
34	chr18:29262121-29262171	RPTEC	kidney:	n/a
35	chr18:29262121-29262171	SKMC	muscle:	n/a
36	chr18:29262121-29262171	H1-hESC	embryonic stem cell:	embryo
37	chr18:29262121-29262171	SK-N-MC	brain:	n/a
38	chr18:29262121-29262171	HCPEpiC	choroid plexus:	n/a
39	chr18:29262121-29262171	Hepatocyte	liver:	n/a
40	chr18:29262121-29262171	AG10803	skin:	n/a
41	chr18:29262121-29262171	AG09309	skin:	n/a
42	chr18:29262121-29262171	AoSMC	blood vessel:	n/a
43	chr18:29262121-29262171	HRE	kidney:	n/a
44	chr18:29262121-29262171	GM12891	blood:	n/a
45	chr18:29262121-29262171	T-47D	breast:	n/a
46	chr18:29262121-29262171	PANC-1	pancreas:	n/a
47	chr18:29262121-29262171	ECC-1	luminal epithelium:	n/a
48	chr18:29262121-29262171	A549	lung:	n/a
49	chr18:29262121-29262171	SK-N-SH_RA	brain:	n/a
50	chr18:29262121-29262171	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29259339..29260872-chr18:29261230..29264110,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259985	TF binding region
ENSG00000259985	CpG island

Extended variants
information (count: 34 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532891597	chr18:29262114-29262115	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs9954432	chr18:29262202-29262203	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs573226140	chr18:29262235-29262236	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs186983256	chr18:29262374-29262375	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs35822868	chr18:29262379-29262380	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531821017	chr18:29262383-29262384	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs537790217	chr18:29262406-29262407	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs968325	chr18:29262427-29262428	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568705034	chr18:29262442-29262443	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs189534486	chr18:29262443-29262444	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs529378558	chr18:29262491-29262492	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs559339257	chr18:29262505-29262506	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554240149	chr18:29262556-29262557	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs566103653	chr18:29262564-29262565	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs374884230	chr18:29262574-29262575	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs376548744	chr18:29262584-29262585	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs558294953	chr18:29262592-29262593	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs79762259	chr18:29262646-29262647	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs543300656	chr18:29262696-29262697	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs555628016	chr18:29262741-29262742	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs573886367	chr18:29262754-29262755	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs180730219	chr18:29262868-29262869	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs138754368	chr18:29262876-29262877	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs557628879	chr18:29262880-29262881	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs374744051	chr18:29262905-29262906	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs532780346	chr18:29262919-29262920	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs544663359	chr18:29262974-29262975	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs563239078	chr18:29262987-29262988	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs186701374	chr18:29263012-29263013	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs190028315	chr18:29263021-29263022	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs149348212	chr18:29263068-29263069	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs147485935	chr18:29263075-29263076	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs8084949	chr18:29263081-29263082	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548128965	chr18:29263258-29263259	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	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
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29253200-29262800	Weak transcription	HepG2	liver
2	chr18:29253600-29262200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:29253600-29264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:29257800-29262400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr18:29257800-29262600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr18:29258000-29263800	Weak transcription	Thymus	Thymus
7	chr18:29258200-29262600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr18:29258200-29263000	Enhancers	Primary hematopoietic stem cells	blood
9	chr18:29258200-29263200	Weak transcription	Fetal Thymus	thymus
10	chr18:29258200-29263600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr18:29258200-29263800	Weak transcription	Small Intestine	intestine
12	chr18:29258400-29262200	Enhancers	Fetal Intestine Large	intestine
13	chr18:29258400-29262200	Enhancers	Fetal Intestine Small	intestine
14	chr18:29258400-29263200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:29258800-29263600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:29259000-29263000	Weak transcription	Psoas Muscle	Psoas
17	chr18:29259000-29264000	Weak transcription	Esophagus	oesophagus
18	chr18:29259000-29264400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr18:29259400-29263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr18:29259600-29263800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:29259600-29264000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:29259800-29263800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:29259800-29263800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr18:29259800-29263800	Weak transcription	NHDF-Ad	bronchial
25	chr18:29260000-29262400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr18:29260000-29263800	Weak transcription	Osteobl	bone
27	chr18:29260200-29263600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:29260200-29263800	Weak transcription	Adipose Nuclei	Adipose
29	chr18:29260400-29263000	Enhancers	Dnd41	blood
30	chr18:29260400-29263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:29260400-29263400	Weak transcription	NH-A	brain
32	chr18:29260400-29263800	Weak transcription	Liver	Liver
33	chr18:29260400-29264200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr18:29260600-29262800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:29260600-29262800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:29260600-29263000	Weak transcription	Fetal Brain Female	brain
37	chr18:29260600-29263200	Weak transcription	Fetal Heart	heart
38	chr18:29260600-29263600	Weak transcription	Right Atrium	heart
39	chr18:29260600-29263800	Weak transcription	Colonic Mucosa	Colon
40	chr18:29260600-29264200	Weak transcription	Left Ventricle	heart
41	chr18:29260600-29264200	Weak transcription	Lung	lung
42	chr18:29260600-29264200	Weak transcription	Pancreas	Pancrea
43	chr18:29260800-29263200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr18:29260800-29263600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr18:29260800-29264000	Weak transcription	Right Ventricle	heart
46	chr18:29261000-29262200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr18:29261000-29262800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr18:29261000-29263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr18:29261000-29263200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr18:29261000-29263200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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