Variant report

Variant	nsv1066584
Chromosome Location	chr18:25439826-25508399
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	18:25465234-25466367..18:25739208-25741005	GM12878	blood:
2	chr18:25359374..25361805-chr18:25445268..25447379,2	K562	blood:
3	chr18:25500768..25503277-chr18:25517793..25519720,2	MCF-7	breast:
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: 1205 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1205 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4471777	chr18:25439826-25439827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4281801	chr18:25439836-25439837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191621901	chr18:25439838-25439839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146322878	chr18:25439895-25439896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529257046	chr18:25439904-25439905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4528663	chr18:25439907-25439908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566840491	chr18:25439917-25439918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534496763	chr18:25439986-25439987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184149612	chr18:25439988-25439989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577601148	chr18:25440020-25440021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538100738	chr18:25440058-25440059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139301225	chr18:25440065-25440066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10656331	chr18:25440066-25440067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34805796	chr18:25440069-25440070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397749279	chr18:25440070-25440071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72531271	chr18:25440080-25440081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10656332	chr18:25440081-25440082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34592152	chr18:25440082-25440083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114538229	chr18:25440099-25440100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149533675	chr18:25440111-25440112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187334245	chr18:25440144-25440145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116802970	chr18:25440159-25440160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572460295	chr18:25440181-25440182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540145965	chr18:25440193-25440194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143163276	chr18:25440223-25440224	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs4800827	chr18:25440258-25440259	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs550532836	chr18:25440275-25440276	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs562690469	chr18:25440276-25440277	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs114832484	chr18:25440277-25440278	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs75551270	chr18:25440318-25440319	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs34671276	chr18:25440321-25440322	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs562757003	chr18:25440322-25440323	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs548637747	chr18:25440384-25440385	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs566879235	chr18:25440396-25440397	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs562211720	chr18:25440489-25440490	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs535331413	chr18:25440518-25440519	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs369162188	chr18:25440520-25440521	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs56997426	chr18:25440526-25440527	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113963321	chr18:25440537-25440538	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs4800828	chr18:25440575-25440576	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs11360194	chr18:25440632-25440633	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60547680	chr18:25440650-25440651	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527607470	chr18:25440655-25440656	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538514662	chr18:25440673-25440674	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556494387	chr18:25440674-25440675	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6508511	chr18:25440681-25440682	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535967929	chr18:25440682-25440683	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60248215	chr18:25440747-25440748	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193163941	chr18:25440750-25440751	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7231339	chr18:25440785-25440786	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:205 , 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	chr18:25439200-25440000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr18:25439200-25440600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr18:25439200-25441400	Enhancers	HMEC	breast
5	chr18:25439400-25440800	Enhancers	Dnd41	blood
6	chr18:25439400-25441200	Enhancers	NHEK	skin
7	chr18:25439400-25442200	Enhancers	Fetal Heart	heart
8	chr18:25439600-25440200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:25439600-25441200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:25439600-25441200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:25439800-25440200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr18:25439800-25441200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:25440000-25440200	Enhancers	Gastric	stomach
14	chr18:25440000-25440200	Enhancers	HSMM	muscle
15	chr18:25440000-25441000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:25440000-25441000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:25440000-25441200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr18:25440000-25441200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr18:25440000-25441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr18:25440000-25441200	Enhancers	Left Ventricle	heart
21	chr18:25440000-25441600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:25440000-25441800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:25440000-25441800	Enhancers	Fetal Muscle Leg	muscle
24	chr18:25440000-25441800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr18:25440200-25440400	Flanking Active TSS	HSMM	muscle
26	chr18:25440200-25440600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr18:25440200-25440600	Enhancers	HepG2	liver
28	chr18:25440200-25440600	Enhancers	HSMMtube	muscle
29	chr18:25440200-25444200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr18:25440400-25440800	Active TSS	HSMM	muscle
31	chr18:25440600-25441000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:25440600-25441000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:25440600-25441000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr18:25440600-25441000	Active TSS	HSMMtube	muscle
35	chr18:25440600-25441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr18:25440600-25441600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr18:25440600-25441800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr18:25440600-25442400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr18:25440800-25441000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr18:25440800-25441000	Enhancers	Gastric	stomach
41	chr18:25440800-25441200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr18:25440800-25441200	Enhancers	Fetal Muscle Trunk	muscle
43	chr18:25440800-25441200	Flanking Active TSS	Dnd41	blood
44	chr18:25440800-25441200	Active TSS	HepG2	liver
45	chr18:25440800-25441200	Enhancers	Osteobl	bone
46	chr18:25440800-25441400	Weak transcription	HSMM	muscle
47	chr18:25440800-25441800	Enhancers	Psoas Muscle	Psoas
48	chr18:25440800-25441800	Enhancers	Right Ventricle	heart
49	chr18:25440800-25442400	Enhancers	Right Atrium	heart
50	chr18:25441000-25441200	Enhancers	HSMMtube	muscle

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