Variant report

Variant	nsv962892
Chromosome Location	chr18:12895974-12896793
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	chr18:12896552..12898453-chr18:12901316..12903530,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 54 )

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	rs182522504	chr18:12896002-12896003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569610302	chr18:12896019-12896020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547814312	chr18:12896020-12896021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34619612	chr18:12896029-12896030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557891581	chr18:12896039-12896040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187178440	chr18:12896072-12896073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115257572	chr18:12896171-12896172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149650215	chr18:12896173-12896174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146898649	chr18:12896258-12896259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75938217	chr18:12896274-12896275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34873620	chr18:12896275-12896276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74462493	chr18:12896277-12896278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397858318	chr18:12896290-12896291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544045330	chr18:12896322-12896323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562441908	chr18:12896339-12896340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577544409	chr18:12896371-12896372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12964902	chr18:12896405-12896406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559860802	chr18:12896426-12896427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527302851	chr18:12896433-12896434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567479706	chr18:12896469-12896470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35078379	chr18:12896512-12896513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376995019	chr18:12896518-12896519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34865024	chr18:12896528-12896529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548755232	chr18:12896547-12896548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374143005	chr18:12896691-12896692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529499925	chr18:12896697-12896698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551240631	chr18:12896699-12896700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569546823	chr18:12896750-12896751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370764633	chr18:12896780-12896781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Melanoma	18172304	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
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12891200-12896800	Enhancers	Fetal Thymus	thymus
2	chr18:12891800-12896800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr18:12892600-12896800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:12893600-12896800	Weak transcription	Ovary	ovary
5	chr18:12894800-12896000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr18:12895000-12896000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:12895200-12896800	Weak transcription	Thymus	Thymus
8	chr18:12895400-12896200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr18:12895600-12896400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr18:12895800-12896000	Bivalent Enhancer	Primary B cells from cord blood	blood
11	chr18:12895800-12896200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr18:12896000-12897200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr18:12896200-12896600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr18:12896200-12896800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr18:12896600-12897800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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