Variant report

Variant	esv1010298
Chromosome Location	chr18:7006361-7006967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147555598	chr18:7006371-7006372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538200841	chr18:7006393-7006394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs67533617	chr18:7006396-7006397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56194789	chr18:7006401-7006402	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs60993690	chr18:7006403-7006404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575164127	chr18:7006453-7006454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540654288	chr18:7006460-7006461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553842928	chr18:7006479-7006480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143573524	chr18:7006507-7006508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542369501	chr18:7006508-7006509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545929113	chr18:7006595-7006596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185734604	chr18:7006663-7006664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150559773	chr18:7006727-7006728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541604928	chr18:7006773-7006774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562146910	chr18:7006800-7006801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572614	chr18:7006871-7006872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs547391828	chr18:7006878-7006879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531109027	chr18:7006888-7006889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533057349	chr18:7006905-7006906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11660770	chr18:7006911-7006912	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs78841507	chr18:7006917-7006918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534148196	chr18:7006918-7006919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11081294	chr18:7006944-7006945	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568782983	chr18:7006949-7006950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Breast cancer	17133270	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6951000-7007600	Weak transcription	Osteobl	bone
2	chr18:6957800-7020800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:6960600-7022800	Weak transcription	Fetal Brain Female	brain
4	chr18:6960600-7026400	Weak transcription	Brain Substantia Nigra	brain
5	chr18:6961000-7007200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:6978400-7013600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:6982800-7011200	Weak transcription	Ovary	ovary
8	chr18:6993000-7011400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr18:6993800-7010200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr18:6995000-7008200	Weak transcription	Brain Germinal Matrix	brain
11	chr18:6995400-7006600	Weak transcription	Spleen	Spleen
12	chr18:6995400-7011200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:6995400-7017000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:6995400-7036800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr18:6998000-7011200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr18:6998400-7008200	Weak transcription	HMEC	breast
17	chr18:6998400-7011400	Weak transcription	Fetal Kidney	kidney
18	chr18:7002000-7017800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr18:7002400-7013800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr18:7004000-7007600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:7004200-7022600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr18:7004800-7007800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr18:7004800-7010000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:7004800-7010200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:7004800-7011600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr18:7004800-7017400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr18:7005000-7007600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr18:7005000-7009600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:7005000-7051800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:7005200-7012400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:7005200-7041400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr18:7005400-7009400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:7005400-7017800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr18:7005600-7007400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr18:7005800-7008600	Strong transcription	Hela-S3	cervix
36	chr18:7006000-7006800	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr18:7006000-7007200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr18:7006000-7010400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr18:7006000-7017800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr18:7006200-7010200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:7006200-7011000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr18:7006800-7008800	Weak transcription	H9 Cell Line	embryonic stem cell

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