Variant report

Variant	nsv607715
Chromosome Location	chr7:84769653-84795710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52464253..52464773-chr7:84783688..84784207,2	MCF-7	breast:
2	chr7:84783479..84785634-chr7:84790820..84792912,2	K562	blood:
3	chr7:84783479..84785634-chr7:84790820..84792912,2	K562	blood:
4	chr7:84783738..84785912-chr7:84791930..84794783,2	K562	blood:
5	chr7:84783738..84785912-chr7:84791930..84794783,2	K562	blood:

Extended variants
information (count: 908 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:908 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11496058	chr7:84769653-84769654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563257077	chr7:84769678-84769679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189127142	chr7:84769688-84769689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141397060	chr7:84769693-84769694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549229332	chr7:84769699-84769700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567350153	chr7:84769799-84769800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534772824	chr7:84769926-84769927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528937394	chr7:84769964-84769965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530508681	chr7:84769968-84769969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550553790	chr7:84770031-84770032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546477119	chr7:84770047-84770048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150827630	chr7:84770099-84770100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192066529	chr7:84770161-84770162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376436604	chr7:84770192-84770193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556954272	chr7:84770222-84770223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575207162	chr7:84770231-84770232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73703794	chr7:84770239-84770240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555205500	chr7:84770266-84770267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573449505	chr7:84770267-84770268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540867946	chr7:84770344-84770345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139282796	chr7:84770362-84770363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150022653	chr7:84770398-84770399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528107388	chr7:84770456-84770457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184903081	chr7:84770460-84770461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147191039	chr7:84770461-84770462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563292516	chr7:84770495-84770496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189752854	chr7:84770503-84770504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180944264	chr7:84770511-84770512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185938176	chr7:84770525-84770526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528356347	chr7:84770526-84770527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190422173	chr7:84770531-84770532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80060698	chr7:84770596-84770597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532492203	chr7:84770654-84770655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551677024	chr7:84770764-84770765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568921036	chr7:84770773-84770774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536691622	chr7:84770820-84770821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113502787	chr7:84770847-84770848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567180349	chr7:84770850-84770851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181772773	chr7:84770903-84770904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186426193	chr7:84770998-84770999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577483023	chr7:84771086-84771087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372808465	chr7:84771113-84771114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545124726	chr7:84771146-84771147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117524347	chr7:84771223-84771224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575238145	chr7:84771277-84771278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542637965	chr7:84771313-84771314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566245722	chr7:84771314-84771315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560707597	chr7:84771326-84771327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140531978	chr7:84771358-84771359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570500128	chr7:84771364-84771365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84766200-84780000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:84770800-84771200	Enhancers	Fetal Kidney	kidney
3	chr7:84774000-84774400	Enhancers	Fetal Lung	lung
4	chr7:84774400-84777200	Weak transcription	Fetal Lung	lung
5	chr7:84777200-84778200	Enhancers	Fetal Lung	lung
6	chr7:84777400-84778000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:84778200-84779000	Weak transcription	Fetal Lung	lung
8	chr7:84779000-84779400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:84779000-84779400	Strong transcription	Fetal Lung	lung
10	chr7:84779200-84779600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:84779400-84782200	Weak transcription	Fetal Lung	lung
12	chr7:84780000-84780200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:84780000-84780200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:84780000-84780400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:84780000-84780400	Enhancers	NHEK	skin
16	chr7:84780200-84783400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:84780400-84783200	Weak transcription	NHEK	skin
18	chr7:84782200-84783000	Strong transcription	Fetal Lung	lung
19	chr7:84783000-84792000	Weak transcription	Fetal Lung	lung
20	chr7:84783200-84783800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:84783200-84784000	Enhancers	NHEK	skin
22	chr7:84783200-84784200	Enhancers	HMEC	breast
23	chr7:84783400-84784000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:84783400-84784000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:84784000-84788000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:84784000-84789000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:84785600-84786200	Enhancers	Brain Substantia Nigra	brain
28	chr7:84786000-84786200	Enhancers	Brain Hippocampus Middle	brain
29	chr7:84786000-84786400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:84786000-84789000	Weak transcription	HUVEC	blood vessel
31	chr7:84786200-84787000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:84786600-84787000	Enhancers	Fetal Kidney	kidney
33	chr7:84786800-84787000	Enhancers	Brain Hippocampus Middle	brain
34	chr7:84786800-84787200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:84787000-84791600	Weak transcription	Fetal Kidney	kidney
36	chr7:84787800-84789200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:84788000-84788600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:84788600-84789000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:84789000-84789600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr7:84789000-84789600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:84789000-84789600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:84789000-84789600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:84789000-84789600	Enhancers	HMEC	breast
44	chr7:84789000-84789600	Enhancers	HUVEC	blood vessel
45	chr7:84789000-84789800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:84789000-84789800	Enhancers	NHEK	skin
47	chr7:84789000-84790000	Enhancers	Hela-S3	cervix
48	chr7:84789000-84790200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:84789200-84789800	Enhancers	Osteobl	bone
50	chr7:84789600-84789800	Active TSS	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links