Variant report

Variant	nsv875573
Chromosome Location	chr2:188331704-188343131
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	chr2:188332292..188334574-chr2:188338658..188340896,2	K562	blood:
2	chr2:188325986..188328358-chr2:188338477..188341086,2	K562	blood:
3	chr2:188327729..188329305-chr2:188335653..188337277,2	K562	blood:
4	chr2:188332292..188334574-chr2:188338658..188340896,2	K562	blood:
5	chr2:188338540..188341601-chr2:188345636..188349487,3	K562	blood:
6	chr2:188330316..188331975-chr2:188335329..188337023,2	K562	blood:
7	chr2:188340694..188341382-chr6:117319233..117320186,2	MCF-7	breast:
8	chr2:188330316..188331975-chr2:188335329..188337023,2	K562	blood:
9	chr2:188340883..188342702-chr2:188345303..188347630,2	K562	blood:
10	chr2:188329317..188331418-chr2:188341720..188346261,4	K562	blood:

No data

Extended variants
information (count: 416 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5940	chr2:188331704-188331705	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373189356	chr2:188331734-188331735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142317270	chr2:188331741-188331742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199674280	chr2:188331788-188331789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563534751	chr2:188331794-188331795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142361362	chr2:188331797-188331798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551900482	chr2:188331836-188331837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570165626	chr2:188331866-188331867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368260293	chr2:188331870-188331871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111681715	chr2:188331890-188331891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557173151	chr2:188331912-188331913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571296338	chr2:188331937-188331938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536179515	chr2:188331991-188331992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557360249	chr2:188332077-188332078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189079593	chr2:188332104-188332105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575528155	chr2:188332108-188332109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542546724	chr2:188332119-188332120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3771061	chr2:188332190-188332191	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs146897418	chr2:188332192-188332193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540578131	chr2:188332306-188332307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13421593	chr2:188332334-188332335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573452522	chr2:188332346-188332347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565051066	chr2:188332355-188332356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181026479	chr2:188332367-188332368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576897036	chr2:188332374-188332375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370592737	chr2:188332454-188332455	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201379726	chr2:188332466-188332467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147913988	chr2:188332508-188332509	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200555524	chr2:188332588-188332589	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373953673	chr2:188332598-188332599	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113727256	chr2:188332602-188332603	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563433428	chr2:188332609-188332610	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367816846	chr2:188332615-188332616	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142016000	chr2:188332629-188332630	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200584967	chr2:188332687-188332688	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs8176592	chr2:188332692-188332693	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs563860365	chr2:188332717-188332718	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187157465	chr2:188332731-188332732	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546362491	chr2:188332784-188332785	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568086365	chr2:188332799-188332800	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150444938	chr2:188332834-188332835	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191220043	chr2:188332838-188332839	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs8176628	chr2:188332868-188332869	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540056866	chr2:188332882-188332883	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542114613	chr2:188332977-188332978	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138198243	chr2:188332985-188332986	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575414744	chr2:188332986-188332987	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61019402	chr2:188332987-188332988	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558357992	chr2:188333019-188333020	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530474051	chr2:188333045-188333046	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188313400-188340000	Weak transcription	Fetal Brain Male	brain
2	chr2:188324600-188332400	Weak transcription	HUVEC	blood vessel
3	chr2:188325400-188334200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:188326800-188341800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:188326800-188353600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:188326800-188357600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:188326800-188357800	Weak transcription	Lung	lung
8	chr2:188327000-188332600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:188327000-188337400	Weak transcription	Pancreas	Pancrea
10	chr2:188327000-188339200	Weak transcription	Fetal Intestine Small	intestine
11	chr2:188327000-188357800	Weak transcription	Left Ventricle	heart
12	chr2:188327200-188357600	Weak transcription	Fetal Intestine Large	intestine
13	chr2:188327400-188332400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:188327400-188339000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:188327600-188341200	Weak transcription	NHDF-Ad	bronchial
16	chr2:188328000-188331800	Weak transcription	NH-A	brain
17	chr2:188328200-188342200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:188328200-188357600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:188328200-188360000	Weak transcription	Psoas Muscle	Psoas
20	chr2:188328400-188341800	Weak transcription	NHLF	lung
21	chr2:188328400-188343400	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:188328400-188365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:188328600-188357200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:188328800-188342000	Weak transcription	HSMMtube	muscle
25	chr2:188328800-188343000	Weak transcription	Fetal Stomach	stomach
26	chr2:188329000-188341800	Strong transcription	HSMM	muscle
27	chr2:188329000-188358000	Weak transcription	K562	blood
28	chr2:188329200-188340200	Weak transcription	Hela-S3	cervix
29	chr2:188329200-188347800	Strong transcription	Liver	Liver
30	chr2:188329400-188333600	Strong transcription	Osteobl	bone
31	chr2:188329600-188331800	Strong transcription	Placenta	Placenta
32	chr2:188329800-188338600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:188330200-188337400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:188330400-188332000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:188330400-188332200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:188330400-188333200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:188330400-188333600	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr2:188330600-188344400	Weak transcription	Fetal Lung	lung
39	chr2:188330800-188335200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:188331200-188334800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:188331200-188336200	Strong transcription	HepG2	liver
42	chr2:188331800-188332400	Weak transcription	Placenta	Placenta
43	chr2:188331800-188333600	Strong transcription	NH-A	brain
44	chr2:188332000-188340200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:188332200-188333000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:188332400-188333600	Strong transcription	Placenta	Placenta
47	chr2:188332400-188334000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:188332400-188336000	Strong transcription	HUVEC	blood vessel
49	chr2:188332600-188332800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:188332800-188357600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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