Variant report

Variant	esv3328069
Chromosome Location	chr18:249321-249719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:248531..251029-chr18:267645..269804,2	K562	blood:
2	chr18:248314..250346-chr18:271820..273799,2	K562	blood:
3	chr18:248724..251192-chr18:298155..299664,2	K562	blood:
4	chr18:249334..252987-chr18:265974..268103,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263884	chromatin interactions
ENSG00000079134	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182358083	chr18:249330-249331	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368541730	chr18:249357-249358	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs186732915	chr18:249359-249360	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs76585661	chr18:249372-249373	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558613570	chr18:249388-249389	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs570717774	chr18:249393-249394	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537696249	chr18:249404-249405	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556327169	chr18:249405-249406	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183867644	chr18:249442-249443	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138239187	chr18:249468-249469	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs1784829	chr18:249472-249473	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
12	rs550493216	chr18:249476-249477	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs572934773	chr18:249480-249481	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540609552	chr18:249491-249492	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs565484838	chr18:249525-249526	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs577466253	chr18:249537-249538	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544535492	chr18:249542-249543	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs563093050	chr18:249587-249588	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188825323	chr18:249594-249595	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs8084647	chr18:249606-249607	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs530854365	chr18:249611-249612	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs192906517	chr18:249618-249619	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs527337883	chr18:249624-249625	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200806331	chr18:249657-249658	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs201605475	chr18:249661-249662	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7232001	chr18:249667-249668	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs11399503	chr18:249668-249669	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200081287	chr18:249669-249670	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs114579944	chr18:249684-249685	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Cancer	20164919	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:199800-251000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:212000-256400	Weak transcription	Gastric	stomach
3	chr18:214400-251600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:214400-252000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:218000-267400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:218600-250400	Weak transcription	Colonic Mucosa	Colon
7	chr18:218600-261400	Weak transcription	Pancreas	Pancrea
8	chr18:218600-267200	Weak transcription	Stomach Mucosa	stomach
9	chr18:219000-251400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr18:219000-251600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr18:219000-267200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:219000-267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:224200-250600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr18:225000-250800	Weak transcription	HSMMtube	muscle
15	chr18:225200-254600	Weak transcription	Right Ventricle	heart
16	chr18:225600-251200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr18:225800-250400	Weak transcription	Brain Hippocampus Middle	brain
18	chr18:226400-251200	Weak transcription	NHEK	skin
19	chr18:227800-251200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr18:238000-265800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr18:238000-266200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr18:238200-265000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr18:238400-265800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr18:239600-258200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr18:239600-265200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr18:239600-265200	Strong transcription	Liver	Liver
27	chr18:239800-265800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr18:240000-265200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr18:240200-265200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr18:240200-265200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr18:240200-265400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr18:240600-250400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr18:240600-255400	Weak transcription	Fetal Heart	heart
34	chr18:240600-258600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr18:240600-266200	Strong transcription	Primary B cells from cord blood	blood
36	chr18:241000-260800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr18:241200-249600	Strong transcription	Primary T cells from cord blood	blood
38	chr18:241200-253400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr18:241200-265400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr18:241400-259800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr18:241600-255000	Weak transcription	Spleen	Spleen
42	chr18:241600-259400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr18:241600-261400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr18:241600-265600	Strong transcription	Fetal Thymus	thymus
45	chr18:242600-260000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:243000-262200	Strong transcription	HepG2	liver
47	chr18:243200-265600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr18:243600-250600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:243600-265000	Strong transcription	Adipose Nuclei	Adipose
50	chr18:243800-262000	Strong transcription	HSMM	muscle

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