Variant report

Variant	nsv576590
Chromosome Location	chr18:25437752-25508399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:25500768..25503277-chr18:25517793..25519720,2	MCF-7	breast:
2	18:25465234-25466367..18:25739208-25741005	GM12878	blood:
3	chr18:25359374..25361805-chr18:25445268..25447379,2	K562	blood:
4	18:25475931-25479150..18:25752943-25759013	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000170558	chromatin interactions

Extended variants
information (count: 1296 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1296 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4129156	chr18:25437752-25437753	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4129155	chr18:25437754-25437755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149273675	chr18:25437798-25437799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563678879	chr18:25437802-25437803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189010916	chr18:25437807-25437808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552364505	chr18:25437808-25437809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146199430	chr18:25437825-25437826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73413478	chr18:25437828-25437829	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529001364	chr18:25437829-25437830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78322956	chr18:25437845-25437846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565683458	chr18:25437856-25437857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368118251	chr18:25437890-25437891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139116891	chr18:25437920-25437921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543939606	chr18:25437921-25437922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180908351	chr18:25437979-25437980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76740800	chr18:25437985-25437986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569983720	chr18:25438004-25438005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143970011	chr18:25438024-25438025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200017898	chr18:25438087-25438088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555550568	chr18:25438136-25438137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573724084	chr18:25438140-25438141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535119207	chr18:25438159-25438160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553006839	chr18:25438186-25438187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577055013	chr18:25438192-25438193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186230808	chr18:25438197-25438198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9949254	chr18:25438200-25438201	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73945050	chr18:25438210-25438211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs146646134	chr18:25438218-25438219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77194750	chr18:25438228-25438229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190294433	chr18:25438235-25438236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148791990	chr18:25438285-25438286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528632779	chr18:25438299-25438300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116435205	chr18:25438331-25438332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181380194	chr18:25438387-25438388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560026017	chr18:25438429-25438430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142430068	chr18:25438444-25438445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533058820	chr18:25438455-25438456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113907120	chr18:25438459-25438460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185998255	chr18:25438491-25438492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72881460	chr18:25438494-25438495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569537870	chr18:25438548-25438549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9949575	chr18:25438570-25438571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs9963956	chr18:25438575-25438576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567461088	chr18:25438612-25438613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9961502	chr18:25438630-25438631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374426589	chr18:25438649-25438650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190830982	chr18:25438712-25438713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115873509	chr18:25438730-25438731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557339573	chr18:25438740-25438741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564506566	chr18:25438761-25438762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Acute myeloid leukemia	19651600	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25436400-25440000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr18:25437600-25438800	Enhancers	Fetal Heart	heart
3	chr18:25438000-25438200	Enhancers	Left Ventricle	heart
4	chr18:25438800-25439000	Flanking Active TSS	Fetal Heart	heart
5	chr18:25439000-25439200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:25439000-25439200	Enhancers	Fetal Heart	heart
7	chr18:25439200-25439400	Flanking Active TSS	Fetal Heart	heart
8	chr18:25439200-25440000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:25439200-25440600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:25439200-25441400	Enhancers	HMEC	breast
11	chr18:25439400-25440800	Enhancers	Dnd41	blood
12	chr18:25439400-25441200	Enhancers	NHEK	skin
13	chr18:25439400-25442200	Enhancers	Fetal Heart	heart
14	chr18:25439600-25440200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr18:25439600-25441200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr18:25439600-25441200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:25439800-25440200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr18:25439800-25441200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:25440000-25440200	Enhancers	Gastric	stomach
20	chr18:25440000-25440200	Enhancers	HSMM	muscle
21	chr18:25440000-25441000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:25440000-25441000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:25440000-25441200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr18:25440000-25441200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr18:25440000-25441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr18:25440000-25441200	Enhancers	Left Ventricle	heart
27	chr18:25440000-25441600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:25440000-25441800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:25440000-25441800	Enhancers	Fetal Muscle Leg	muscle
30	chr18:25440000-25441800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr18:25440200-25440400	Flanking Active TSS	HSMM	muscle
32	chr18:25440200-25440600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr18:25440200-25440600	Enhancers	HepG2	liver
34	chr18:25440200-25440600	Enhancers	HSMMtube	muscle
35	chr18:25440200-25444200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr18:25440400-25440800	Active TSS	HSMM	muscle
37	chr18:25440600-25441000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:25440600-25441000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr18:25440600-25441000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr18:25440600-25441000	Active TSS	HSMMtube	muscle
41	chr18:25440600-25441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr18:25440600-25441600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr18:25440600-25441800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr18:25440600-25442400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr18:25440800-25441000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr18:25440800-25441000	Enhancers	Gastric	stomach
47	chr18:25440800-25441200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:25440800-25441200	Enhancers	Fetal Muscle Trunk	muscle
49	chr18:25440800-25441200	Flanking Active TSS	Dnd41	blood
50	chr18:25440800-25441200	Active TSS	HepG2	liver

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