Variant report

Variant	esv3317402
Chromosome Location	chr18:44429293-44431156
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	EP300	chr18:44429881-44430013	K562	blood:	n/a	n/a
2	MAFF	chr18:44429008-44429338	HepG2	liver:	n/a	chr18:44429156-44429174 chr18:44429186-44429204
3	MAFK	chr18:44429017-44429330	HepG2	liver:	n/a	chr18:44429152-44429172 chr18:44429154-44429170 chr18:44429188-44429198 chr18:44429157-44429172 chr18:44429187-44429202
4	MAFK	chr18:44429009-44429351	HepG2	liver:	n/a	chr18:44429152-44429172 chr18:44429154-44429170 chr18:44429188-44429198 chr18:44429157-44429172 chr18:44429187-44429202
5	MAFK	chr18:44429018-44429342	IMR90	lung:	n/a	chr18:44429152-44429172 chr18:44429154-44429170 chr18:44429188-44429198 chr18:44429157-44429172 chr18:44429187-44429202
6	POLR2A	chr18:44430519-44430690	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PIAS2	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188305348	chr18:44429363-44429364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373062651	chr18:44429387-44429388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191643517	chr18:44429433-44429434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182354795	chr18:44429469-44429470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553311366	chr18:44429490-44429491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570728287	chr18:44429502-44429503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150998049	chr18:44429545-44429546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142909787	chr18:44429552-44429553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575787125	chr18:44429640-44429641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544755104	chr18:44429648-44429649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564662813	chr18:44429775-44429776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549888896	chr18:44429831-44429832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533616251	chr18:44429850-44429851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556416990	chr18:44429885-44429886	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs546932953	chr18:44429897-44429898	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs114385081	chr18:44429930-44429931	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs563841493	chr18:44430000-44430001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528045297	chr18:44430018-44430019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548144221	chr18:44430019-44430020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567749587	chr18:44430047-44430048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146119686	chr18:44430049-44430050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550307201	chr18:44430061-44430062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377611842	chr18:44430079-44430080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570263894	chr18:44430141-44430142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186605401	chr18:44430176-44430177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552959974	chr18:44430281-44430282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369779815	chr18:44430301-44430302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191144731	chr18:44430314-44430315	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs641366	chr18:44430326-44430327	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs116049692	chr18:44430345-44430346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555916482	chr18:44430347-44430348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11877429	chr18:44430369-44430370	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565890311	chr18:44430410-44430411	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558288833	chr18:44430443-44430444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113107644	chr18:44430446-44430447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540841473	chr18:44430449-44430450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185768494	chr18:44430544-44430545	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140095274	chr18:44430571-44430572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143671116	chr18:44430628-44430629	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561343330	chr18:44430658-44430659	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530427601	chr18:44430680-44430681	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547551476	chr18:44430683-44430684	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139234180	chr18:44430693-44430694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532956461	chr18:44430700-44430701	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149959301	chr18:44430703-44430704	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145040815	chr18:44430728-44430729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4616371	chr18:44430757-44430758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4318299	chr18:44430763-44430764	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs118113327	chr18:44430808-44430809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11874423	chr18:44430828-44430829	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	21569311	CNVD
small cell lung cancer	17426248	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44381400-44433000	Weak transcription	Gastric	stomach
2	chr18:44382200-44437000	Weak transcription	Right Ventricle	heart
3	chr18:44391000-44432400	Weak transcription	Fetal Stomach	stomach
4	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
5	chr18:44392600-44431400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
7	chr18:44393200-44433800	Weak transcription	Colonic Mucosa	Colon
8	chr18:44394400-44434000	Weak transcription	Fetal Kidney	kidney
9	chr18:44394800-44437800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:44397000-44441200	Weak transcription	Hela-S3	cervix
11	chr18:44399200-44434000	Weak transcription	Fetal Brain Female	brain
12	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr18:44399600-44434400	Weak transcription	Fetal Intestine Small	intestine
14	chr18:44399600-44437600	Weak transcription	Small Intestine	intestine
15	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
16	chr18:44401200-44432200	Weak transcription	Fetal Intestine Large	intestine
17	chr18:44401400-44436600	Weak transcription	Psoas Muscle	Psoas
18	chr18:44401400-44437600	Weak transcription	HMEC	breast
19	chr18:44402000-44440800	Weak transcription	A549	lung
20	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:44405400-44443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:44406000-44447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr18:44406800-44433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:44407400-44447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr18:44407600-44431400	Weak transcription	Brain Anterior Caudate	brain
26	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr18:44408000-44431200	Weak transcription	Brain Hippocampus Middle	brain
28	chr18:44408000-44433800	Weak transcription	NH-A	brain
29	chr18:44408000-44438000	Weak transcription	Colon Smooth Muscle	Colon
30	chr18:44408200-44436800	Weak transcription	Brain Germinal Matrix	brain
31	chr18:44408400-44432200	Weak transcription	Fetal Thymus	thymus
32	chr18:44408400-44432400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:44408400-44432400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr18:44408400-44433800	Weak transcription	Osteobl	bone
35	chr18:44408600-44431400	Weak transcription	Aorta	Aorta
36	chr18:44408600-44436800	Weak transcription	NHLF	lung
37	chr18:44408600-44448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr18:44408800-44430600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr18:44408800-44431000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr18:44408800-44432400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr18:44408800-44433800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr18:44408800-44448200	Weak transcription	Lung	lung
43	chr18:44409200-44432600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr18:44409200-44434000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr18:44409400-44432400	Weak transcription	Fetal Muscle Leg	muscle
46	chr18:44409400-44432800	Weak transcription	Ovary	ovary
47	chr18:44409400-44433600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr18:44409400-44437200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr18:44409400-44447400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr18:44409600-44433800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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