Variant report

Variant	nsv520944
Chromosome Location	chr7:140673779-140679684
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	chr7:140672428..140674348-chr7:140681005..140683175,2	K562	blood:
2	chr7:140673174..140674792-chr7:140679004..140681718,2	MCF-7	breast:
3	chr7:140675000..140676654-chr7:140692083..140692972,8	MCF-7	breast:
4	chr7:140674937..140676218-chr7:140692083..140692979,12	MCF-7	breast:
5	chr7:140676052..140677997-chr7:140681862..140683779,2	MCF-7	breast:
6	chr7:140622964..140625760-chr7:140677459..140679390,2	K562	blood:
7	chr7:140668526..140670352-chr7:140672310..140674813,2	MCF-7	breast:
8	chr7:140667563..140669142-chr7:140674491..140677083,2	MCF-7	breast:
9	chr7:140675007..140675968-chr7:140692355..140692975,3	MCF-7	breast:
10	chr7:140673174..140674792-chr7:140679004..140681718,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157764	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3844322	chr7:140673779-140673780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551780466	chr7:140673828-140673829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139048800	chr7:140673875-140673876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192143015	chr7:140673897-140673898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537557314	chr7:140673934-140673935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78842538	chr7:140673981-140673982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376721589	chr7:140674044-140674045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536104956	chr7:140674107-140674108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374719622	chr7:140674115-140674116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554499633	chr7:140674116-140674117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372462729	chr7:140674117-140674118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12703204	chr7:140674118-140674119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs558205342	chr7:140674119-140674120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576448564	chr7:140674127-140674128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543553792	chr7:140674204-140674205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113878544	chr7:140674206-140674207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573062866	chr7:140674208-140674209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs118135228	chr7:140674241-140674242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541656071	chr7:140674257-140674258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559990110	chr7:140674333-140674334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4726136	chr7:140674368-140674369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs201578074	chr7:140674409-140674410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199587844	chr7:140674411-140674412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200518391	chr7:140674412-140674413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201904826	chr7:140674413-140674414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377026577	chr7:140674414-140674415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58526176	chr7:140674445-140674446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551719006	chr7:140674446-140674447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144972025	chr7:140674466-140674467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531391098	chr7:140674475-140674476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140997733	chr7:140674493-140674494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143333044	chr7:140674502-140674503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6960136	chr7:140674631-140674632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548038784	chr7:140674654-140674655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191153108	chr7:140674697-140674698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115304226	chr7:140674738-140674739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184620578	chr7:140674790-140674791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79343758	chr7:140674797-140674798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28455040	chr7:140674839-140674840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189489473	chr7:140674885-140674886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193006094	chr7:140674910-140674911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114595896	chr7:140675006-140675007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555564022	chr7:140675056-140675057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551091130	chr7:140675064-140675065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563115135	chr7:140675070-140675071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533346545	chr7:140675071-140675072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541594313	chr7:140675079-140675080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559929189	chr7:140675103-140675104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571967668	chr7:140675115-140675116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200628322	chr7:140675126-140675127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Myelodysplastic syndrome	17634407	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
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Low-grade astrocytoma	19016743	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140672000-140673800	Enhancers	Liver	Liver
2	chr7:140672400-140673800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:140672400-140673800	Enhancers	Placenta	Placenta
4	chr7:140672400-140674000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:140672600-140673800	Enhancers	Fetal Intestine Large	intestine
6	chr7:140672800-140673800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:140672800-140674000	Enhancers	Adipose Nuclei	Adipose
8	chr7:140672800-140674000	Enhancers	Fetal Intestine Small	intestine
9	chr7:140673000-140674000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:140673600-140674200	Enhancers	HepG2	liver
11	chr7:140673800-140675400	Weak transcription	Fetal Intestine Large	intestine
12	chr7:140673800-140675600	Weak transcription	Liver	Liver
13	chr7:140673800-140675600	Weak transcription	Placenta	Placenta
14	chr7:140674000-140675400	Weak transcription	Adipose Nuclei	Adipose
15	chr7:140674000-140675400	Weak transcription	Fetal Intestine Small	intestine
16	chr7:140674000-140675800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:140674200-140674800	Weak transcription	HepG2	liver
18	chr7:140674800-140675400	Enhancers	HepG2	liver
19	chr7:140675400-140676400	Enhancers	Adipose Nuclei	Adipose
20	chr7:140675400-140676400	Flanking Active TSS	HepG2	liver
21	chr7:140675400-140677800	Enhancers	Fetal Intestine Large	intestine
22	chr7:140675400-140677800	Enhancers	Fetal Intestine Small	intestine
23	chr7:140675600-140675800	Enhancers	Liver	Liver
24	chr7:140675600-140676400	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:140675600-140676400	Enhancers	Placenta	Placenta
26	chr7:140675600-140676400	Enhancers	Gastric	stomach
27	chr7:140675600-140676600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr7:140675600-140676800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr7:140675800-140676000	Flanking Active TSS	Liver	Liver
30	chr7:140675800-140676200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr7:140675800-140677400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr7:140676000-140676200	Enhancers	Liver	Liver
33	chr7:140676000-140677200	Enhancers	Stomach Mucosa	stomach
34	chr7:140676200-140676400	Flanking Active TSS	Liver	Liver
35	chr7:140676400-140676600	Enhancers	Liver	Liver
36	chr7:140676400-140677000	Weak transcription	Adipose Nuclei	Adipose
37	chr7:140676400-140677400	Weak transcription	Placenta	Placenta
38	chr7:140676400-140677800	Enhancers	HepG2	liver
39	chr7:140677000-140677200	Enhancers	Adipose Nuclei	Adipose
40	chr7:140677200-140677400	ZNF genes & repeats	Stomach Mucosa	stomach
41	chr7:140677200-140677800	Enhancers	Fetal Kidney	kidney
42	chr7:140677400-140677600	Enhancers	Placenta	Placenta
43	chr7:140677400-140677800	Weak transcription	Stomach Mucosa	stomach
44	chr7:140677400-140678200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr7:140677600-140678000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr7:140677600-140680400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:140677800-140681600	Weak transcription	Fetal Intestine Large	intestine
48	chr7:140678000-140680200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr7:140678200-140681600	Enhancers	Primary neutrophils fromperipheralblood	blood

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