Variant report

Variant	nsv960249
Chromosome Location	chr18:8832208-8832708
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	chr18:8827382..8829668-chr18:8830158..8832451,3	K562	blood:
2	chr18:8816168..8818222-chr18:8831504..8833305,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185169527	chr18:8832242-8832243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3744975	chr18:8832268-8832269	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546435950	chr18:8832269-8832270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564644540	chr18:8832317-8832318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112917926	chr18:8832411-8832412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573509975	chr18:8832420-8832421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114725394	chr18:8832427-8832428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370204547	chr18:8832478-8832479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs16954382	chr18:8832484-8832485	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529660612	chr18:8832502-8832503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112463785	chr18:8832507-8832508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189577762	chr18:8832524-8832525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570595549	chr18:8832529-8832530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181118932	chr18:8832536-8832537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551980002	chr18:8832539-8832540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78916023	chr18:8832548-8832549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534960382	chr18:8832569-8832570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149013526	chr18:8832594-8832595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568299085	chr18:8832606-8832607	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535861339	chr18:8832635-8832636	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
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
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8801200-8834800	Weak transcription	Esophagus	oesophagus
2	chr18:8807800-8835200	Weak transcription	Right Ventricle	heart
3	chr18:8817200-8834800	Weak transcription	Psoas Muscle	Psoas
4	chr18:8821400-8834600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr18:8821600-8834800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:8822400-8836800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:8825600-8834000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr18:8825600-8835200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr18:8825800-8833200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:8825800-8835000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr18:8826000-8833400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:8826200-8835000	Weak transcription	Placenta	Placenta
13	chr18:8826200-8839600	Weak transcription	Brain Angular Gyrus	brain
14	chr18:8826400-8834800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:8826400-8841600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr18:8826800-8835200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr18:8827200-8834800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr18:8827400-8832600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:8827400-8834800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:8827400-8835000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr18:8827600-8832800	Weak transcription	HSMMtube	muscle
22	chr18:8827600-8834200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr18:8827600-8834600	Weak transcription	Osteobl	bone
24	chr18:8827600-8834800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr18:8827600-8835200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr18:8827600-8839000	Weak transcription	Pancreas	Pancrea
27	chr18:8828000-8834600	Weak transcription	HSMM	muscle
28	chr18:8828400-8837000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr18:8829200-8835000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr18:8829200-8839000	Weak transcription	Fetal Brain Male	brain
31	chr18:8829200-8839000	Weak transcription	Gastric	stomach
32	chr18:8829400-8834000	Strong transcription	A549	lung
33	chr18:8829800-8833200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:8829800-8833200	Strong transcription	NHDF-Ad	bronchial
35	chr18:8830200-8833400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:8830200-8834800	Weak transcription	NHLF	lung
37	chr18:8830600-8834800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr18:8830600-8834800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr18:8830600-8835600	Weak transcription	Brain Germinal Matrix	brain
40	chr18:8830800-8832600	Weak transcription	Fetal Muscle Leg	muscle
41	chr18:8830800-8834800	Weak transcription	Fetal Stomach	stomach
42	chr18:8831000-8834600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr18:8831200-8835600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr18:8831400-8834600	Weak transcription	Colon Smooth Muscle	Colon
45	chr18:8831400-8834600	Weak transcription	K562	blood
46	chr18:8831600-8833600	Strong transcription	NH-A	brain
47	chr18:8831600-8835200	Weak transcription	NHEK	skin
48	chr18:8831800-8832400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:8831800-8832400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr18:8831800-8834600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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