Variant report

Variant	nsv875572
Chromosome Location	chr2:188330682-188355835
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:26)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:188329317..188331418-chr2:188341720..188346261,4	K562	blood:
2	chr2:188327729..188329305-chr2:188335653..188337277,2	K562	blood:
3	chr2:188351020..188353616-chr2:188354924..188357575,2	K562	blood:
4	chr2:188343524..188345048-chr2:188346989..188348629,2	K562	blood:
5	chr2:188329317..188331418-chr2:188341720..188346261,4	K562	blood:
6	chr2:188340883..188342702-chr2:188345303..188347630,2	K562	blood:
7	chr2:188332292..188334574-chr2:188338658..188340896,2	K562	blood:
8	chr2:188343524..188345048-chr2:188346989..188348629,2	K562	blood:
9	chr2:188332292..188334574-chr2:188338658..188340896,2	K562	blood:
10	chr2:188349779..188351933-chr2:188354447..188356243,2	K562	blood:
11	chr2:188351514..188353053-chr2:188353863..188355365,2	MCF-7	breast:
12	chr2:188353320..188355812-chr2:188357936..188360335,2	K562	blood:
13	chr2:188349779..188351933-chr2:188354447..188356243,2	K562	blood:
14	chr2:188351514..188353053-chr2:188353863..188355365,2	MCF-7	breast:
15	chr2:188349831..188352709-chr2:188404428..188405999,2	K562	blood:
16	chr2:188340883..188342702-chr2:188345303..188347630,2	K562	blood:
17	chr2:188347165..188348805-chr2:188354162..188356407,2	K562	blood:
18	chr2:188338540..188341601-chr2:188345636..188349487,3	K562	blood:
19	chr2:188325986..188328358-chr2:188338477..188341086,2	K562	blood:
20	chr2:188340694..188341382-chr6:117319233..117320186,2	MCF-7	breast:
21	chr2:188338540..188341601-chr2:188345636..188349487,3	K562	blood:
22	chr2:188347165..188348805-chr2:188354162..188356407,2	K562	blood:
23	chr2:188350155..188352503-chr2:188415198..188418799,3	K562	blood:
24	chr2:188330316..188331975-chr2:188335329..188337023,2	K562	blood:
25	chr2:188351020..188353616-chr2:188354924..188357575,2	K562	blood:
26	chr2:188330316..188331975-chr2:188335329..188337023,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALCRL-1	chr2:188328960-188330769	NONHSAT076021

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TFPI	hsa-miR-7-5p	chr2:188331101-188331124
2	TFPI	hsa-miR-7-5p	chr2:188331146-188331172

Extended variants
information (count: 889 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:889 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72904378	chr2:188330682-188330683	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563646762	chr2:188330686-188330687	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs145571146	chr2:188330690-188330691	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs558163770	chr2:188330769-188330770	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs545958050	chr2:188330778-188330779	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188375191	chr2:188330795-188330796	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528483247	chr2:188330854-188330855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537277195	chr2:188330858-188330859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547758280	chr2:188330877-188330878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567779249	chr2:188330934-188330935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529860607	chr2:188330950-188330951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548333312	chr2:188330963-188330964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569675417	chr2:188331039-188331040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537179085	chr2:188331094-188331095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78970054	chr2:188331136-188331137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77564305	chr2:188331137-188331138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76003400	chr2:188331138-188331139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558215819	chr2:188331155-188331156	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
19	rs570153904	chr2:188331164-188331165	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
20	rs549006007	chr2:188331166-188331167	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
21	rs13392310	chr2:188331184-188331185	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143723273	chr2:188331260-188331261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151028147	chr2:188331261-188331262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181331004	chr2:188331283-188331284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578008304	chr2:188331302-188331303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575041694	chr2:188331387-188331388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535690610	chr2:188331450-188331451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557558241	chr2:188331451-188331452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184334944	chr2:188331492-188331493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546358044	chr2:188331517-188331518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs8176629	chr2:188331521-188331522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375351186	chr2:188331578-188331579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540594556	chr2:188331593-188331594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386615806	chr2:188331603-188331604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557008415	chr2:188331604-188331605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553116051	chr2:188331639-188331640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377068930	chr2:188331642-188331643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200340379	chr2:188331651-188331652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369648301	chr2:188331653-188331654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs5940	chr2:188331704-188331705	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373189356	chr2:188331734-188331735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142317270	chr2:188331741-188331742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199674280	chr2:188331788-188331789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563534751	chr2:188331794-188331795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142361362	chr2:188331797-188331798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551900482	chr2:188331836-188331837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570165626	chr2:188331866-188331867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368260293	chr2:188331870-188331871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111681715	chr2:188331890-188331891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557173151	chr2:188331912-188331913	Weak transcription Strong transcription	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:290 , 50 per page) page: 1 2 3 4 5 6

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	chr2:188328000-188331200	Weak transcription	HepG2	liver
17	chr2:188328000-188331800	Weak transcription	NH-A	brain
18	chr2:188328200-188342200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:188328200-188357600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:188328200-188360000	Weak transcription	Psoas Muscle	Psoas
21	chr2:188328400-188341800	Weak transcription	NHLF	lung
22	chr2:188328400-188343400	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:188328400-188365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:188328600-188357200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:188328800-188342000	Weak transcription	HSMMtube	muscle
26	chr2:188328800-188343000	Weak transcription	Fetal Stomach	stomach
27	chr2:188329000-188341800	Strong transcription	HSMM	muscle
28	chr2:188329000-188358000	Weak transcription	K562	blood
29	chr2:188329200-188330800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:188329200-188340200	Weak transcription	Hela-S3	cervix
31	chr2:188329200-188347800	Strong transcription	Liver	Liver
32	chr2:188329400-188333600	Strong transcription	Osteobl	bone
33	chr2:188329600-188331800	Strong transcription	Placenta	Placenta
34	chr2:188329800-188338600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:188330000-188330800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:188330200-188337400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:188330400-188331200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:188330400-188332000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:188330400-188332200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:188330400-188333200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:188330400-188333600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr2:188330600-188344400	Weak transcription	Fetal Lung	lung
43	chr2:188330800-188335200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:188331200-188334800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:188331200-188336200	Strong transcription	HepG2	liver
46	chr2:188331800-188332400	Weak transcription	Placenta	Placenta
47	chr2:188331800-188333600	Strong transcription	NH-A	brain
48	chr2:188332000-188340200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:188332200-188333000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:188332400-188333600	Strong transcription	Placenta	Placenta

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