Variant report

Variant	nsv131072
Chromosome Location	chr18:29515532-29516865
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	chr18:29515899-29515903	HepG2	liver:	n/a	n/a
2	POLR2A	chr18:29515734-29515883	HepG2	liver:	n/a	n/a
3	POLR2A	chr18:29516284-29516326	HepG2	liver:	n/a	n/a
4	POLR2A	chr18:29516562-29516677	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr18:29515703-29515714	HepG2	liver:	n/a	n/a
6	POLR2A	chr18:29515563-29515759	K562	blood:	n/a	n/a
7	ZNF384	chr18:29515424-29515608	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29513029..29515925-chr18:29517093..29518613,2	K562	blood:
2	chr18:29511145..29516088-chr18:29521483..29523975,5	MCF-7	breast:

Variant related genes	Relation type
RNU6-1050P	TF binding region
ENSG00000222320	chromatin interactions
ENSG00000153339	chromatin interactions
ENSG00000263823	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114051785	chr18:29515560-29515561	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs540338716	chr18:29515686-29515687	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs559040452	chr18:29515689-29515690	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs79296582	chr18:29515691-29515692	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs533574647	chr18:29515695-29515696	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs375863838	chr18:29515785-29515786	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs189397659	chr18:29515821-29515822	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs572298506	chr18:29515843-29515844	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs531154427	chr18:29515864-29515865	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs111347349	chr18:29515874-29515875	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs544577503	chr18:29515891-29515892	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs181437065	chr18:29515903-29515904	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs567355378	chr18:29515951-29515952	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs534662844	chr18:29516009-29516010	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs186544219	chr18:29516024-29516025	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs115373546	chr18:29516057-29516058	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539116203	chr18:29516085-29516086	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556925155	chr18:29516092-29516093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76268141	chr18:29516137-29516138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536585773	chr18:29516188-29516189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190066720	chr18:29516202-29516203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554870476	chr18:29516258-29516259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35609965	chr18:29516259-29516260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572899216	chr18:29516266-29516267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183075448	chr18:29516267-29516268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565001303	chr18:29516330-29516331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150648448	chr18:29516341-29516342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376199308	chr18:29516354-29516355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113710539	chr18:29516357-29516358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563566570	chr18:29516360-29516361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149837457	chr18:29516421-29516422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549279507	chr18:29516446-29516447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561215531	chr18:29516454-29516455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78212227	chr18:29516511-29516512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546720570	chr18:29516557-29516558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372162514	chr18:29516602-29516603	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs571615616	chr18:29516608-29516609	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs377395303	chr18:29516635-29516636	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs542426827	chr18:29516641-29516642	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs59908498	chr18:29516660-29516661	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569090236	chr18:29516662-29516663	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs139762701	chr18:29516682-29516683	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs554906176	chr18:29516694-29516695	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs185969992	chr18:29516711-29516712	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs144469056	chr18:29516718-29516719	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs146429205	chr18:29516736-29516737	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs191108556	chr18:29516766-29516767	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs576750195	chr18:29516783-29516784	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs111518727	chr18:29516802-29516803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143017231	chr18:29516823-29516824	Weak transcription Strong 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:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
2	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
4	chr18:29461600-29518600	Weak transcription	Psoas Muscle	Psoas
5	chr18:29462000-29520000	Weak transcription	Fetal Heart	heart
6	chr18:29478600-29522000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr18:29479600-29518600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr18:29480600-29519400	Weak transcription	Spleen	Spleen
9	chr18:29482400-29522000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:29482600-29521600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr18:29482800-29521600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:29484400-29520800	Weak transcription	Fetal Brain Female	brain
13	chr18:29484800-29521000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr18:29488000-29519600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr18:29490400-29519000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr18:29492600-29519600	Weak transcription	Ovary	ovary
17	chr18:29493000-29521600	Weak transcription	Aorta	Aorta
18	chr18:29493400-29521600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:29494000-29518400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr18:29496600-29521400	Weak transcription	NHEK	skin
21	chr18:29500600-29521400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:29502800-29519400	Weak transcription	GM12878-XiMat	blood
23	chr18:29503000-29518800	Weak transcription	Right Ventricle	heart
24	chr18:29504600-29516600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:29505200-29521800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:29506000-29516800	Strong transcription	Fetal Thymus	thymus
27	chr18:29506800-29521600	Weak transcription	A549	lung
28	chr18:29508000-29515600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr18:29508400-29515600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr18:29508800-29518600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr18:29508800-29520400	Weak transcription	Brain Germinal Matrix	brain
32	chr18:29509000-29519400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr18:29509200-29520800	Weak transcription	Fetal Lung	lung
34	chr18:29509400-29521000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr18:29509600-29517200	Weak transcription	Left Ventricle	heart
36	chr18:29509600-29519400	Weak transcription	Gastric	stomach
37	chr18:29509600-29519400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr18:29509600-29520800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:29509600-29520800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr18:29509600-29522000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr18:29509600-29522000	Weak transcription	Lung	lung
42	chr18:29510000-29520800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr18:29510200-29519200	Weak transcription	HepG2	liver
44	chr18:29510200-29519400	Weak transcription	Adipose Nuclei	Adipose
45	chr18:29510200-29521800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr18:29510600-29518600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr18:29511200-29521600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr18:29511400-29521000	Weak transcription	Placenta	Placenta
49	chr18:29511400-29521200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr18:29511600-29516200	Weak transcription	HMEC	breast

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