Variant report

Variant	nsv875575
Chromosome Location	chr2:188339349-188352847
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:188338540..188341601-chr2:188345636..188349487,3	K562	blood:
2	chr2:188351020..188353616-chr2:188354924..188357575,2	K562	blood:
3	chr2:188343524..188345048-chr2:188346989..188348629,2	K562	blood:
4	chr2:188340883..188342702-chr2:188345303..188347630,2	K562	blood:
5	chr2:188325986..188328358-chr2:188338477..188341086,2	K562	blood:
6	chr2:188329317..188331418-chr2:188341720..188346261,4	K562	blood:
7	chr2:188338540..188341601-chr2:188345636..188349487,3	K562	blood:
8	chr2:188347165..188348805-chr2:188354162..188356407,2	K562	blood:
9	chr2:188350155..188352503-chr2:188415198..188418799,3	K562	blood:
10	chr2:188343524..188345048-chr2:188346989..188348629,2	K562	blood:
11	chr2:188349831..188352709-chr2:188404428..188405999,2	K562	blood:
12	chr2:188340694..188341382-chr6:117319233..117320186,2	MCF-7	breast:
13	chr2:188332292..188334574-chr2:188338658..188340896,2	K562	blood:
14	chr2:188349779..188351933-chr2:188354447..188356243,2	K562	blood:
15	chr2:188340883..188342702-chr2:188345303..188347630,2	K562	blood:
16	chr2:188351514..188353053-chr2:188353863..188355365,2	MCF-7	breast:

No data

Extended variants
information (count: 459 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8176554	chr2:188339349-188339350	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144644870	chr2:188339357-188339358	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148449110	chr2:188339370-188339371	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539993750	chr2:188339408-188339409	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs8176553	chr2:188339426-188339427	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7569559	chr2:188339450-188339451	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190807331	chr2:188339458-188339459	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs8176552	chr2:188339464-188339465	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532155106	chr2:188339482-188339483	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181469719	chr2:188339634-188339635	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541763354	chr2:188339656-188339657	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7572460	chr2:188339695-188339696	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7560059	chr2:188339713-188339714	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs545558091	chr2:188339724-188339725	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186998223	chr2:188339767-188339768	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189422104	chr2:188339773-188339774	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540303989	chr2:188339825-188339826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs8176551	chr2:188339860-188339861	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150638133	chr2:188339909-188339910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551297777	chr2:188339963-188339964	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79213300	chr2:188339983-188339984	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533583768	chr2:188339997-188339998	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551658002	chr2:188340037-188340038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs8176550	chr2:188340084-188340085	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201882542	chr2:188340126-188340127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs8176549	chr2:188340127-188340128	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540352203	chr2:188340133-188340134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs8176623	chr2:188340158-188340159	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140772766	chr2:188340217-188340218	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554358851	chr2:188340320-188340321	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs8176548	chr2:188340335-188340336	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs8176547	chr2:188340349-188340350	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs8176546	chr2:188340396-188340397	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs556851868	chr2:188340411-188340412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185579732	chr2:188340463-188340464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189651770	chr2:188340464-188340465	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541746523	chr2:188340486-188340487	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539325773	chr2:188340517-188340518	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557698931	chr2:188340603-188340604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112549517	chr2:188340694-188340695	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147868929	chr2:188340715-188340716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs8176622	chr2:188340717-188340718	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs8176545	chr2:188340730-188340731	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs8176544	chr2:188340733-188340734	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563199662	chr2:188340755-188340756	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533700381	chr2:188340773-188340774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565004077	chr2:188340794-188340795	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200987845	chr2:188340846-188340847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560563045	chr2:188340858-188340859	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527883606	chr2:188340881-188340882	Weak transcription Strong transcription 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:181 , 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	chr2:188326800-188341800	Weak transcription	Adipose Nuclei	Adipose
3	chr2:188326800-188353600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:188326800-188357600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:188326800-188357800	Weak transcription	Lung	lung
6	chr2:188327000-188357800	Weak transcription	Left Ventricle	heart
7	chr2:188327200-188357600	Weak transcription	Fetal Intestine Large	intestine
8	chr2:188327600-188341200	Weak transcription	NHDF-Ad	bronchial
9	chr2:188328200-188342200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:188328200-188357600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:188328200-188360000	Weak transcription	Psoas Muscle	Psoas
12	chr2:188328400-188341800	Weak transcription	NHLF	lung
13	chr2:188328400-188343400	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:188328400-188365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:188328600-188357200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:188328800-188342000	Weak transcription	HSMMtube	muscle
17	chr2:188328800-188343000	Weak transcription	Fetal Stomach	stomach
18	chr2:188329000-188341800	Strong transcription	HSMM	muscle
19	chr2:188329000-188358000	Weak transcription	K562	blood
20	chr2:188329200-188340200	Weak transcription	Hela-S3	cervix
21	chr2:188329200-188347800	Strong transcription	Liver	Liver
22	chr2:188330600-188344400	Weak transcription	Fetal Lung	lung
23	chr2:188332000-188340200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:188332800-188357600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:188333600-188341200	Weak transcription	NH-A	brain
26	chr2:188334000-188339600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:188334200-188374600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:188334600-188348200	Weak transcription	A549	lung
29	chr2:188335000-188342200	Weak transcription	Small Intestine	intestine
30	chr2:188335200-188340200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:188335600-188341800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:188336800-188344200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:188336800-188345800	Strong transcription	HUVEC	blood vessel
34	chr2:188337200-188342200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:188337200-188354000	Strong transcription	HepG2	liver
36	chr2:188337400-188339600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:188337400-188339600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:188337800-188341000	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr2:188338200-188340800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:188338600-188339400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:188338600-188342200	Weak transcription	Osteobl	bone
42	chr2:188338800-188340800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:188339000-188341200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:188339200-188341000	Weak transcription	Placenta	Placenta
45	chr2:188339400-188349600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:188339600-188339800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:188339600-188339800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:188339600-188341200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr2:188339600-188341200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:188339800-188341200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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