Variant report

Variant	nsv875579
Chromosome Location	chr2:188346460-188353663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:188340883..188342702-chr2:188345303..188347630,2	K562	blood:
2	chr2:188351020..188353616-chr2:188354924..188357575,2	K562	blood:
3	chr2:188347165..188348805-chr2:188354162..188356407,2	K562	blood:
4	chr2:188353320..188355812-chr2:188357936..188360335,2	K562	blood:
5	chr2:188349831..188352709-chr2:188404428..188405999,2	K562	blood:
6	chr2:188338540..188341601-chr2:188345636..188349487,3	K562	blood:
7	chr2:188343524..188345048-chr2:188346989..188348629,2	K562	blood:
8	chr2:188350155..188352503-chr2:188415198..188418799,3	K562	blood:
9	chr2:188349779..188351933-chr2:188354447..188356243,2	K562	blood:
10	chr2:188351514..188353053-chr2:188353863..188355365,2	MCF-7	breast:

No data

Extended variants
information (count: 219 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8176522	chr2:188346460-188346461	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545581955	chr2:188346496-188346497	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373439531	chr2:188346549-188346550	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs8176521	chr2:188346554-188346555	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564165032	chr2:188346628-188346629	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182139228	chr2:188346720-188346721	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78436351	chr2:188346760-188346761	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550054079	chr2:188346764-188346765	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77926991	chr2:188346795-188346796	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540206054	chr2:188346802-188346803	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187942827	chr2:188346864-188346865	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs8176617	chr2:188346868-188346869	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192422421	chr2:188346888-188346889	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544910919	chr2:188346889-188346890	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78771891	chr2:188346924-188346925	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs8176616	chr2:188347057-188347058	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs8176615	chr2:188347074-188347075	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551593795	chr2:188347096-188347097	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs8176520	chr2:188347130-188347131	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566922862	chr2:188347193-188347194	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539339800	chr2:188347222-188347223	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527704093	chr2:188347253-188347254	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185623026	chr2:188347293-188347294	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567308048	chr2:188347319-188347320	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34874720	chr2:188347370-188347371	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554428495	chr2:188347379-188347380	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543155434	chr2:188347380-188347381	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs8176519	chr2:188347428-188347429	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556788612	chr2:188347462-188347463	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543827809	chr2:188347473-188347474	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568964867	chr2:188347500-188347501	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539582308	chr2:188347552-188347553	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564134037	chr2:188347559-188347560	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572921560	chr2:188347607-188347608	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540315409	chr2:188347631-188347632	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557539490	chr2:188347644-188347645	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140527802	chr2:188347660-188347661	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555441233	chr2:188347666-188347667	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573674822	chr2:188347703-188347704	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188937182	chr2:188347705-188347706	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192077007	chr2:188347738-188347739	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184340963	chr2:188347831-188347832	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572656499	chr2:188347838-188347839	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188391390	chr2:188347872-188347873	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527816121	chr2:188347887-188347888	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150692346	chr2:188347981-188347982	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549058682	chr2:188347985-188347986	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs8176518	chr2:188347988-188347989	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs8176517	chr2:188347991-188347992	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181249787	chr2:188348028-188348029	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188326800-188353600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:188326800-188357600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:188326800-188357800	Weak transcription	Lung	lung
4	chr2:188327000-188357800	Weak transcription	Left Ventricle	heart
5	chr2:188327200-188357600	Weak transcription	Fetal Intestine Large	intestine
6	chr2:188328200-188357600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:188328200-188360000	Weak transcription	Psoas Muscle	Psoas
8	chr2:188328400-188365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:188328600-188357200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:188329000-188358000	Weak transcription	K562	blood
11	chr2:188329200-188347800	Strong transcription	Liver	Liver
12	chr2:188332800-188357600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:188334200-188374600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:188334600-188348200	Weak transcription	A549	lung
15	chr2:188337200-188354000	Strong transcription	HepG2	liver
16	chr2:188339400-188349600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:188339800-188357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:188341200-188347200	Strong transcription	NH-A	brain
19	chr2:188341200-188349400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:188341200-188357200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:188342200-188350600	Strong transcription	Osteobl	bone
22	chr2:188342600-188356600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:188342800-188347200	Weak transcription	NHLF	lung
24	chr2:188342800-188347400	Weak transcription	HSMMtube	muscle
25	chr2:188342800-188348200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:188342800-188357200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:188342800-188362400	Strong transcription	HSMM	muscle
28	chr2:188343400-188347600	Weak transcription	Hela-S3	cervix
29	chr2:188343400-188348400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:188343800-188347600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:188343800-188357600	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:188344000-188348400	Weak transcription	NHDF-Ad	bronchial
33	chr2:188344000-188348800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:188344000-188349600	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr2:188345000-188346600	Weak transcription	Placenta	Placenta
36	chr2:188345000-188351000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:188345400-188347600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:188346000-188346600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:188346000-188353800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:188346400-188347600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:188346400-188348000	Weak transcription	Fetal Lung	lung
42	chr2:188346400-188348200	Genic enhancers	HUVEC	blood vessel
43	chr2:188346400-188353400	Weak transcription	Adipose Nuclei	Adipose
44	chr2:188346600-188347200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:188346600-188349800	Strong transcription	Placenta	Placenta
46	chr2:188347000-188360200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:188347200-188347400	Weak transcription	NH-A	brain
48	chr2:188347200-188349600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:188347200-188349600	Strong transcription	NHLF	lung
50	chr2:188347400-188349000	Strong transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links