Variant report

Variant	nsv960277
Chromosome Location	chr18:44662930-44664886
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	chr18:44663208-44663441	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr18:44664752-44664952	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44664428..44666267-chr18:44672303..44675573,3	K562	blood:
2	chr18:44660900..44663835-chr18:44675479..44677959,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KATNAL2-6	chr18:44663389-44663661	NONHSAT059155

Variant related genes	Relation type
ENSG00000267800	TF binding region
ENSG00000167220	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368980222	chr18:44662968-44662969	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569842024	chr18:44662997-44662998	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144963110	chr18:44663014-44663015	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555799145	chr18:44663021-44663022	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2571003	chr18:44663022-44663023	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200842458	chr18:44663023-44663024	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541317387	chr18:44663034-44663035	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555252784	chr18:44663044-44663045	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34485183	chr18:44663091-44663092	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573523585	chr18:44663130-44663131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190132061	chr18:44663146-44663147	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs76102393	chr18:44663190-44663191	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531470185	chr18:44663207-44663208	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372749116	chr18:44663224-44663225	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs143554343	chr18:44663248-44663249	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565126586	chr18:44663257-44663258	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs367615197	chr18:44663279-44663280	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs116592436	chr18:44663295-44663296	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs72907220	chr18:44663341-44663342	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536948621	chr18:44663477-44663478	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs137983916	chr18:44663532-44663533	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs181342023	chr18:44663537-44663538	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs75284103	chr18:44663578-44663579	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs116464063	chr18:44663592-44663593	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs140995814	chr18:44663595-44663596	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs535237212	chr18:44663609-44663610	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs138572541	chr18:44663617-44663618	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs575107739	chr18:44663643-44663644	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs141565081	chr18:44663661-44663662	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs530991324	chr18:44663672-44663673	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs79420880	chr18:44663687-44663688	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185418811	chr18:44663747-44663748	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558870807	chr18:44663760-44663761	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374391819	chr18:44663791-44663792	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577686268	chr18:44663799-44663800	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188273293	chr18:44663808-44663809	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574527334	chr18:44663859-44663860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564985898	chr18:44663892-44663893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180831553	chr18:44664001-44664002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78720782	chr18:44664015-44664016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556544541	chr18:44664026-44664027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561008838	chr18:44664039-44664040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530042543	chr18:44664048-44664049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186420535	chr18:44664049-44664050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191987780	chr18:44664092-44664093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73954240	chr18:44664095-44664096	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552218936	chr18:44664107-44664108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565858948	chr18:44664116-44664117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71352640	chr18:44664127-44664128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2635050	chr18:44664131-44664132	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

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
Prostate cancer	22341455	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44620800-44675400	Weak transcription	A549	lung
2	chr18:44621600-44674400	Weak transcription	Small Intestine	intestine
3	chr18:44626600-44664800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:44629200-44675800	Weak transcription	HUVEC	blood vessel
5	chr18:44632400-44675800	Weak transcription	Stomach Mucosa	stomach
6	chr18:44636200-44670600	Weak transcription	Pancreas	Pancrea
7	chr18:44639600-44665000	Weak transcription	Colonic Mucosa	Colon
8	chr18:44639600-44666400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr18:44640600-44675600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr18:44641600-44670400	Weak transcription	HepG2	liver
11	chr18:44641600-44674000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr18:44641600-44675800	Weak transcription	Lung	lung
13	chr18:44641800-44663200	Weak transcription	Esophagus	oesophagus
14	chr18:44641800-44664400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr18:44641800-44665600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr18:44641800-44674400	Weak transcription	Aorta	Aorta
17	chr18:44641800-44675200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr18:44641800-44675400	Weak transcription	Fetal Intestine Small	intestine
19	chr18:44641800-44675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:44641800-44675800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr18:44642000-44664600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:44642000-44675200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr18:44642200-44674600	Weak transcription	NHEK	skin
24	chr18:44645600-44665200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:44645600-44667600	Weak transcription	HSMMtube	muscle
26	chr18:44647400-44663200	Weak transcription	Gastric	stomach
27	chr18:44647800-44675800	Weak transcription	Ovary	ovary
28	chr18:44649400-44664000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr18:44650400-44670800	Weak transcription	Right Ventricle	heart
30	chr18:44653400-44668600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:44654200-44663400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:44655200-44663600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr18:44655800-44670000	Weak transcription	Fetal Heart	heart
34	chr18:44656400-44675200	Weak transcription	Thymus	Thymus
35	chr18:44656800-44670400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr18:44656800-44675000	Weak transcription	Colon Smooth Muscle	Colon
37	chr18:44656800-44675200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr18:44659800-44664000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:44660200-44664000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:44660200-44667200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr18:44660400-44663000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr18:44660400-44663000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr18:44660400-44663000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr18:44660400-44663400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:44660400-44663400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr18:44660400-44663400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr18:44660400-44663400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr18:44660400-44663400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr18:44660400-44663600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr18:44660400-44663600	Strong transcription	Duodenum Mucosa	Duodenum

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