Variant report

Variant	nsv576445
Chromosome Location	chr18:9205530-9206602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9201149..9204433-chr18:9205696..9208292,3	K562	blood:
2	chr18:9204077..9208041-chr18:9208940..9212355,4	K562	blood:
3	chr18:9007606..9010125-chr18:9203134..9206117,2	K562	blood:
4	chr18:9199977..9204433-chr18:9205247..9208292,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558649323	chr18:9205546-9205547	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546845882	chr18:9205578-9205579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568294038	chr18:9205635-9205636	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143885350	chr18:9205709-9205710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199987576	chr18:9205742-9205743	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534731870	chr18:9205774-9205775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144230101	chr18:9205777-9205778	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368041728	chr18:9205802-9205803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575029479	chr18:9205825-9205826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35480339	chr18:9205879-9205880	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148288937	chr18:9205881-9205882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557495117	chr18:9205882-9205883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192374072	chr18:9205883-9205884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141471951	chr18:9206055-9206056	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565004642	chr18:9206119-9206120	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532132903	chr18:9206150-9206151	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541071720	chr18:9206231-9206232	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373333325	chr18:9206264-9206265	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529026074	chr18:9206285-9206286	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184556464	chr18:9206300-9206301	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201069697	chr18:9206362-9206363	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150844411	chr18:9206376-9206377	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139708764	chr18:9206407-9206408	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548814643	chr18:9206473-9206474	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58790346	chr18:9206504-9206505	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187430326	chr18:9206536-9206537	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563471883	chr18:9206558-9206559	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
2	chr18:9173000-9208400	Weak transcription	NHLF	lung
3	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
4	chr18:9174800-9211000	Weak transcription	Hela-S3	cervix
5	chr18:9174800-9233600	Weak transcription	Pancreas	Pancrea
6	chr18:9178000-9221800	Weak transcription	Fetal Heart	heart
7	chr18:9180200-9214200	Weak transcription	A549	lung
8	chr18:9181600-9214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr18:9183400-9211400	Weak transcription	Brain Germinal Matrix	brain
10	chr18:9183800-9225600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr18:9184600-9233800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr18:9185200-9233800	Weak transcription	Right Ventricle	heart
13	chr18:9185400-9214200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:9185400-9223400	Weak transcription	Stomach Mucosa	stomach
15	chr18:9185600-9211000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr18:9185600-9232400	Weak transcription	Colonic Mucosa	Colon
17	chr18:9185800-9215200	Weak transcription	Small Intestine	intestine
18	chr18:9186000-9214400	Weak transcription	Brain Angular Gyrus	brain
19	chr18:9187000-9221800	Weak transcription	Fetal Brain Male	brain
20	chr18:9188400-9214400	Weak transcription	Brain Anterior Caudate	brain
21	chr18:9188400-9233600	Weak transcription	Esophagus	oesophagus
22	chr18:9188600-9233600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr18:9188800-9211600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr18:9188800-9218200	Weak transcription	Thymus	Thymus
25	chr18:9189000-9208400	Weak transcription	HSMMtube	muscle
26	chr18:9189200-9208600	Weak transcription	Ovary	ovary
27	chr18:9189200-9233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr18:9189400-9215000	Weak transcription	Aorta	Aorta
29	chr18:9192200-9210400	Weak transcription	Left Ventricle	heart
30	chr18:9192200-9215400	Weak transcription	Psoas Muscle	Psoas
31	chr18:9192200-9233600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr18:9192200-9284000	Weak transcription	NHEK	skin
33	chr18:9192400-9211600	Weak transcription	HMEC	breast
34	chr18:9192400-9214400	Weak transcription	Fetal Muscle Leg	muscle
35	chr18:9193000-9211400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr18:9193200-9211200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr18:9193400-9224800	Weak transcription	Lung	lung
38	chr18:9193400-9230600	Weak transcription	Fetal Stomach	stomach
39	chr18:9193800-9211600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:9194200-9206000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr18:9194200-9211400	Weak transcription	NH-A	brain
42	chr18:9194800-9219400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:9195200-9214400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr18:9195800-9211600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr18:9195800-9214400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr18:9196000-9208400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr18:9196000-9208600	Weak transcription	Dnd41	blood
48	chr18:9196000-9209800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr18:9196200-9207800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr18:9196400-9208600	Weak transcription	Osteobl	bone

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