Variant report

Variant	nsv5967
Chromosome Location	chr7:137988239-138015844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137926916..137928434-chr7:137998152..138000341,2	K562	blood:
2	chr7:137988083..137990941-chr7:138145037..138146557,2	MCF-7	breast:
3	chr7:137995053..137999099-chr7:138144129..138146392,3	K562	blood:
4	chr7:137978354..137980372-chr7:137985691..137988661,2	K562	blood:
5	chr7:137978354..137980840-chr7:137985937..137988661,2	K562	blood:
6	chr7:138011680..138013976-chr7:138143884..138146522,2	K562	blood:

Variant related genes	Relation type
ENSG00000122779	chromatin interactions

Extended variants
information (count: 1240 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1240 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553269789	chr7:137988331-137988332	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187434904	chr7:137988332-137988333	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs60969	chr7:137988338-137988339	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs62488604	chr7:137988345-137988346	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530377422	chr7:137988347-137988348	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543948146	chr7:137988360-137988361	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192976123	chr7:137988376-137988377	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532599918	chr7:137988382-137988383	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552472427	chr7:137988409-137988410	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372600031	chr7:137988411-137988412	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79569828	chr7:137988423-137988424	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566235505	chr7:137988426-137988427	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs432187	chr7:137988441-137988442	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548824157	chr7:137988466-137988467	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184831214	chr7:137988524-137988525	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115769422	chr7:137988527-137988528	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549302129	chr7:137988533-137988534	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150640644	chr7:137988540-137988541	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139716726	chr7:137988560-137988561	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188144273	chr7:137988574-137988575	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572961640	chr7:137988587-137988588	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535386464	chr7:137988593-137988594	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192328680	chr7:137988594-137988595	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574932103	chr7:137988648-137988649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149775054	chr7:137988652-137988653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563866396	chr7:137988653-137988654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183484213	chr7:137988656-137988657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147445791	chr7:137988671-137988672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs559705501	chr7:137988676-137988677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189481969	chr7:137988711-137988712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs410187	chr7:137988714-137988715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs410156	chr7:137988754-137988755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139787042	chr7:137988820-137988821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs145276954	chr7:137988835-137988836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs431358	chr7:137988856-137988857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs61587307	chr7:137988864-137988865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544573423	chr7:137988871-137988872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147623528	chr7:137988891-137988892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547033484	chr7:137988900-137988901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566594334	chr7:137988922-137988923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs5887876	chr7:137988961-137988962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs398095414	chr7:137988963-137988964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535626744	chr7:137988967-137988968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs75792018	chr7:137988993-137988994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533440325	chr7:137989036-137989037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs550396615	chr7:137989053-137989054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149079447	chr7:137989055-137989056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570542246	chr7:137989070-137989071	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537718182	chr7:137989078-137989079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs536527087	chr7:137989124-137989125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137988000-137988400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:137988000-137988600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:137988000-137992800	Enhancers	Placenta	Placenta
4	chr7:137988200-137988400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:137988400-137988600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:137988400-137992600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:137988600-137989600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:137988600-137999200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:137989600-137989800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr7:137990000-137991400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:137991400-137992400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:137992400-137992600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:137992400-137993400	Enhancers	HepG2	liver
14	chr7:137992600-137993000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:137992800-137998600	Weak transcription	Placenta	Placenta
16	chr7:137993000-137993200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:137993200-137993600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:137993400-137994800	Weak transcription	HepG2	liver
19	chr7:137994800-137995400	Enhancers	HepG2	liver
20	chr7:137995200-138012000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:137995400-137998600	Weak transcription	HepG2	liver
22	chr7:137998000-138000200	Enhancers	K562	blood
23	chr7:137998000-138000400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:137998200-137999800	Enhancers	Stomach Mucosa	stomach
25	chr7:137998600-137999400	Enhancers	Fetal Intestine Small	intestine
26	chr7:137998600-137999400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr7:137998600-137999600	Enhancers	Placenta	Placenta
28	chr7:137998600-138001600	Enhancers	HepG2	liver
29	chr7:137998600-138002400	Enhancers	Fetal Intestine Large	intestine
30	chr7:137998800-137999000	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr7:137998800-137999200	Enhancers	Liver	Liver
32	chr7:137998800-137999200	Enhancers	Small Intestine	intestine
33	chr7:137998800-137999400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr7:137998800-137999400	Enhancers	Spleen	Spleen
35	chr7:137998800-137999400	Enhancers	Hela-S3	cervix
36	chr7:137999000-137999200	Active TSS	Duodenum Mucosa	Duodenum
37	chr7:137999200-137999400	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr7:137999200-138000400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:137999200-138001000	Weak transcription	Liver	Liver
40	chr7:137999400-137999600	Genic enhancers	Fetal Intestine Small	intestine
41	chr7:137999400-138000400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:137999400-138000400	Enhancers	Duodenum Mucosa	Duodenum
43	chr7:137999400-138000600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:137999600-138000200	Enhancers	Fetal Intestine Small	intestine
45	chr7:137999800-138001000	Weak transcription	Stomach Mucosa	stomach
46	chr7:138000200-138000400	Genic enhancers	Fetal Intestine Small	intestine
47	chr7:138000400-138001600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr7:138000400-138002200	Enhancers	Fetal Intestine Small	intestine
49	chr7:138001000-138001200	Flanking Active TSS	Liver	Liver
50	chr7:138001000-138001200	Enhancers	Sigmoid Colon	Sigmoid Colon

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