Variant report

Variant	nsv966912
Chromosome Location	chr7:152458603-152467072
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:152372618..152374953-chr7:152456032..152458958,3	MCF-7	breast:
2	chr7:152350020..152352895-chr7:152457250..152459622,2	K562	blood:
3	chr7:152272316..152275315-chr7:152457417..152459478,2	K562	blood:
4	chr7:152131214..152133795-chr7:152457561..152460908,3	K562	blood:
5	chr7:151289994..151291527-chr7:152457246..152459829,2	K562	blood:
6	chr7:152358838..152361607-chr7:152458753..152460485,2	K562	blood:
7	chr7:151814006..151817004-chr7:152456983..152459909,2	K562	blood:
8	chr7:152442786..152449495-chr7:152455161..152460241,10	K562	blood:
9	chr7:152371235..152373485-chr7:152456876..152459275,3	K562	blood:
10	chr7:152457650..152460498-chr7:152461318..152464362,6	K562	blood:
11	chr7:152159418..152164481-chr7:152455770..152458995,5	K562	blood:
12	chr7:152159214..152163397-chr7:152455316..152459065,6	MCF-7	breast:
13	chr7:152443156..152446125-chr7:152457371..152459756,3	K562	blood:
14	chr7:152457650..152460498-chr7:152461318..152464362,6	K562	blood:
15	chr7:152456757..152459002-chr7:152460432..152462072,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196584	chromatin interactions
ENSG00000133627	chromatin interactions
ENSG00000261455	chromatin interactions
ENSG00000055609	chromatin interactions
ENSG00000214003	chromatin interactions

Extended variants
information (count: 374 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181787642	chr7:152458670-152458671	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs530350216	chr7:152458679-152458680	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs569859546	chr7:152458683-152458684	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs570222554	chr7:152458691-152458692	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs12672082	chr7:152458701-152458702	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369696122	chr7:152458738-152458739	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs61063791	chr7:152458746-152458747	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs114629467	chr7:152458783-152458784	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs117941435	chr7:152458787-152458788	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs538326859	chr7:152458813-152458814	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs115614150	chr7:152458815-152458816	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs80197162	chr7:152458853-152458854	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs187397895	chr7:152458951-152458952	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs115183093	chr7:152459011-152459012	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs192089646	chr7:152459046-152459047	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs558908030	chr7:152459057-152459058	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs148526549	chr7:152459097-152459098	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs79135658	chr7:152459113-152459114	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs116692014	chr7:152459147-152459148	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs577195054	chr7:152459196-152459197	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs142179999	chr7:152459225-152459226	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs151191041	chr7:152459239-152459240	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs559849829	chr7:152459250-152459251	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs79375493	chr7:152459270-152459271	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs554252421	chr7:152459317-152459318	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs541444008	chr7:152459355-152459356	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs180863114	chr7:152459369-152459370	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs542393151	chr7:152459386-152459387	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs563912663	chr7:152459389-152459390	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs531110534	chr7:152459410-152459411	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs114327192	chr7:152459430-152459431	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs115204981	chr7:152459440-152459441	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs561200005	chr7:152459538-152459539	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs531949894	chr7:152459573-152459574	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs13236298	chr7:152459578-152459579	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs13236386	chr7:152459613-152459614	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs397839682	chr7:152459615-152459616	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs531948898	chr7:152459641-152459642	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs547012994	chr7:152459655-152459656	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs565390828	chr7:152459684-152459685	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs10952372	chr7:152459687-152459688	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370707318	chr7:152459721-152459722	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs2966541	chr7:152459729-152459730	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs375374060	chr7:152459730-152459731	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs2966540	chr7:152459738-152459739	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs2966539	chr7:152459810-152459811	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs367630779	chr7:152459838-152459839	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs569879726	chr7:152459866-152459867	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs565575864	chr7:152459892-152459893	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs56329556	chr7:152459913-152459914	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152457400-152458800	Flanking Active TSS	NHEK	skin
2	chr7:152457400-152459000	Flanking Active TSS	HMEC	breast
3	chr7:152457400-152459200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:152457400-152459200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:152457600-152458800	Flanking Active TSS	Hela-S3	cervix
6	chr7:152457600-152459000	Enhancers	Small Intestine	intestine
7	chr7:152457600-152459200	Flanking Active TSS	Osteobl	bone
8	chr7:152457800-152458800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:152457800-152458800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr7:152457800-152458800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:152457800-152458800	Flanking Active TSS	A549	lung
12	chr7:152457800-152459000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:152457800-152459000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr7:152457800-152459000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:152457800-152459000	Enhancers	Pancreas	Pancrea
16	chr7:152457800-152459200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:152457800-152459200	Transcr. at gene 5' and 3'	K562	blood
18	chr7:152457800-152459200	Flanking Active TSS	NH-A	brain
19	chr7:152457800-152459400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:152457800-152459400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr7:152457800-152459400	Flanking Active TSS	GM12878-XiMat	blood
22	chr7:152457800-152471000	Weak transcription	Gastric	stomach
23	chr7:152458000-152458800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:152458000-152458800	Flanking Active TSS	HepG2	liver
25	chr7:152458000-152459000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr7:152458000-152459000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr7:152458000-152459000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr7:152458000-152459000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr7:152458000-152459000	Enhancers	Psoas Muscle	Psoas
30	chr7:152458000-152459000	Enhancers	HSMMtube	muscle
31	chr7:152458000-152459200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:152458000-152459400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr7:152458000-152459400	Enhancers	NHDF-Ad	bronchial
34	chr7:152458000-152459600	Enhancers	Fetal Heart	heart
35	chr7:152458200-152458800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr7:152458200-152458800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:152458200-152458800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:152458200-152459000	Enhancers	Primary B cells from cord blood	blood
39	chr7:152458200-152459000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:152458200-152459000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr7:152458200-152459000	Enhancers	Liver	Liver
42	chr7:152458200-152459000	Weak transcription	Brain Substantia Nigra	brain
43	chr7:152458200-152459000	Flanking Active TSS	Fetal Brain Male	brain
44	chr7:152458200-152459200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:152458200-152459400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:152458200-152459800	Enhancers	Brain Angular Gyrus	brain
47	chr7:152458400-152458800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:152458400-152458800	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr7:152458400-152458800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr7:152458400-152458800	Enhancers	Muscle Satellite Cultured Cells	--

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