Variant report

Variant	esv3388579
Chromosome Location	chr2:144890332-144891830
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	chr2:144887546..144889474-chr2:144891117..144893763,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578181917	chr2:144890349-144890350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535606394	chr2:144890460-144890461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191103331	chr2:144890487-144890488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146682381	chr2:144890489-144890490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149659833	chr2:144890552-144890553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575744517	chr2:144890571-144890572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543110952	chr2:144890577-144890578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561389248	chr2:144890648-144890649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200056489	chr2:144890682-144890683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377464037	chr2:144890684-144890685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548896458	chr2:144890690-144890691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549074614	chr2:144890695-144890696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536909287	chr2:144890698-144890699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542442613	chr2:144890703-144890704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529051953	chr2:144890708-144890709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371044897	chr2:144890709-144890710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541235535	chr2:144890710-144890711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559538788	chr2:144890711-144890712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545174111	chr2:144890717-144890718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs60642040	chr2:144890718-144890719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376682012	chr2:144890720-144890721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551680137	chr2:144890731-144890732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569532043	chr2:144890734-144890735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182715715	chr2:144890736-144890737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544917108	chr2:144890758-144890759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548624405	chr2:144890803-144890804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567034608	chr2:144890804-144890805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547179402	chr2:144890810-144890811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534455153	chr2:144890813-144890814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553289449	chr2:144890814-144890815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571839740	chr2:144890851-144890852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538949145	chr2:144890852-144890853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551198431	chr2:144890954-144890955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556817012	chr2:144890970-144890971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557650342	chr2:144890979-144890980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371251421	chr2:144890987-144890988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553106129	chr2:144890989-144890990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373085332	chr2:144891010-144891011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373893675	chr2:144891014-144891015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368031617	chr2:144891016-144891017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187788235	chr2:144891024-144891025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7594820	chr2:144891106-144891107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536649776	chr2:144891212-144891213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555059008	chr2:144891227-144891228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13006142	chr2:144891268-144891269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201188086	chr2:144891321-144891322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539084653	chr2:144891325-144891326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573363975	chr2:144891350-144891351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7595013	chr2:144891460-144891461	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs34113453	chr2:144891504-144891505	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144869400-144899000	Weak transcription	Aorta	Aorta
2	chr2:144870200-144895200	Weak transcription	HSMMtube	muscle
3	chr2:144870200-144909000	Weak transcription	Psoas Muscle	Psoas
4	chr2:144870600-144891400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:144871400-144900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:144871600-144903200	Weak transcription	Left Ventricle	heart
7	chr2:144872000-144901200	Weak transcription	Fetal Kidney	kidney
8	chr2:144872200-144895200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:144873600-144901400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:144873600-144901400	Weak transcription	Adipose Nuclei	Adipose
11	chr2:144873800-144901800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:144874400-144897000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:144874800-144891200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:144874800-144913200	Weak transcription	Fetal Lung	lung
15	chr2:144877200-144895000	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:144877200-144895600	Weak transcription	Pancreas	Pancrea
17	chr2:144877200-144903200	Weak transcription	Ovary	ovary
18	chr2:144877400-144891400	Weak transcription	Brain Angular Gyrus	brain
19	chr2:144881200-144895200	Weak transcription	HSMM	muscle
20	chr2:144883200-144891200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:144883200-144908000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:144883600-144893200	Weak transcription	Primary B cells from cord blood	blood
23	chr2:144887600-144890600	Enhancers	NHLF	lung
24	chr2:144888200-144890400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:144888200-144890600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:144888200-144890600	Enhancers	NHDF-Ad	bronchial
27	chr2:144888200-144890800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:144889000-144891400	Weak transcription	K562	blood
29	chr2:144889600-144895400	Weak transcription	NH-A	brain
30	chr2:144890200-144890400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:144890400-144891400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:144890400-144895400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:144890600-144891600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:144890600-144895200	Weak transcription	NHDF-Ad	bronchial
35	chr2:144890600-144895400	Weak transcription	NHLF	lung
36	chr2:144890800-144891400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:144891000-144891400	Weak transcription	A549	lung
38	chr2:144891200-144891400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:144891200-144891400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:144891200-144891400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:144891200-144891400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:144891200-144892000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:144891200-144892200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:144891200-144892400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:144891400-144891600	Enhancers	Fetal Brain Male	brain
46	chr2:144891400-144891800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:144891400-144891800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:144891400-144891800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr2:144891400-144891800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr2:144891400-144891800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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