Variant report

Variant	nsv824001
Chromosome Location	chr7:6494779-6499407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6487071..6489296-chr7:6498689..6501637,2	MCF-7	breast:
2	chr7:6487534..6489634-chr7:6491176..6495271,6	MCF-7	breast:
3	chr7:6486167..6489212-chr7:6498721..6504081,5	MCF-7	breast:
4	chr7:6495113..6497493-chr7:6497529..6500079,3	MCF-7	breast:
5	chr7:6495113..6497493-chr7:6497529..6500079,3	MCF-7	breast:
6	chr7:6484395..6490398-chr7:6492212..6496662,5	MCF-7	breast:
7	chr7:6497678..6499764-chr7:6515399..6517836,2	K562	blood:

Variant related genes	Relation type
ENSG00000164535	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:243 , 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	rs11767044	chr7:6494795-6494796	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551764381	chr7:6494818-6494819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188551686	chr7:6494843-6494844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11764027	chr7:6494905-6494906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200249752	chr7:6494946-6494947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546626106	chr7:6494957-6494958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200780391	chr7:6494960-6494961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs61330180	chr7:6494969-6494970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140832979	chr7:6495011-6495012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7792987	chr7:6495017-6495018	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs527839449	chr7:6495062-6495063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199517160	chr7:6495070-6495071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs58661879	chr7:6495071-6495072	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs71008395	chr7:6495082-6495083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144382420	chr7:6495118-6495119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534932974	chr7:6495154-6495155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184298247	chr7:6495180-6495181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553525541	chr7:6495189-6495190	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190122859	chr7:6495218-6495219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs147832210	chr7:6495223-6495224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113328266	chr7:6495233-6495234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182295221	chr7:6495234-6495235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187303344	chr7:6495245-6495246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs117294534	chr7:6495259-6495260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372171953	chr7:6495326-6495327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11761347	chr7:6495327-6495328	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577051318	chr7:6495337-6495338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs151010487	chr7:6495347-6495348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562525285	chr7:6495368-6495369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112788575	chr7:6495374-6495375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574047311	chr7:6495379-6495380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541535713	chr7:6495386-6495387	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs559808595	chr7:6495387-6495388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190900345	chr7:6495422-6495423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527929337	chr7:6495433-6495434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538215339	chr7:6495440-6495441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552719859	chr7:6495441-6495442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12670808	chr7:6495466-6495467	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs575219972	chr7:6495487-6495488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532051534	chr7:6495501-6495502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs180913695	chr7:6495547-6495548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568449671	chr7:6495575-6495576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs140661385	chr7:6495594-6495595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547957832	chr7:6495608-6495609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566154947	chr7:6495614-6495615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534011453	chr7:6495624-6495625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558732753	chr7:6495626-6495627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576934460	chr7:6495647-6495648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12666637	chr7:6495653-6495654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556145649	chr7:6495664-6495665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD
Intracranial arachnoid cysts	20187927	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6488200-6499600	Weak transcription	Lung	lung
2	chr7:6488200-6499800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:6488200-6499800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:6488200-6500200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:6488200-6500800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:6488400-6500200	Weak transcription	HSMMtube	muscle
7	chr7:6488400-6505200	Weak transcription	Fetal Brain Male	brain
8	chr7:6488400-6505600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:6488400-6505600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:6488600-6499800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:6488600-6500000	Weak transcription	Primary T cells from cord blood	blood
12	chr7:6488800-6499800	Weak transcription	Fetal Brain Female	brain
13	chr7:6488800-6499800	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:6488800-6500000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:6488800-6500000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:6488800-6500000	Weak transcription	Adipose Nuclei	Adipose
17	chr7:6488800-6500000	Weak transcription	Liver	Liver
18	chr7:6488800-6500000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:6488800-6500200	Weak transcription	Brain Germinal Matrix	brain
20	chr7:6488800-6500200	Weak transcription	Spleen	Spleen
21	chr7:6488800-6500800	Weak transcription	Primary B cells from cord blood	blood
22	chr7:6488800-6500800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:6488800-6501000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:6488800-6505200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:6488800-6505200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:6488800-6505600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr7:6489000-6499800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:6489000-6499800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:6489000-6500000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:6489000-6500000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:6489000-6500000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:6489000-6500000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr7:6489000-6500200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:6489000-6500200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:6489000-6500200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr7:6489000-6500200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr7:6489000-6500200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:6489000-6500200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:6489000-6500200	Weak transcription	GM12878-XiMat	blood
40	chr7:6489000-6500400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:6489000-6500600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:6489000-6500600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:6489000-6501000	Weak transcription	Aorta	Aorta
44	chr7:6489200-6500000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:6489200-6500000	Weak transcription	Fetal Thymus	thymus
46	chr7:6489200-6500200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:6489200-6500400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:6489200-6500400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:6489200-6500400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr7:6489200-6500800	Weak transcription	Dnd41	blood

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