Variant report

Variant	nsv967463
Chromosome Location	chr7:87461803-87465302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:87460495..87462162-chr7:87504392..87506202,2	K562	blood:
2	chr7:87458484..87460611-chr7:87462209..87463941,2	K562	blood:
3	chr7:87462306..87463963-chr7:87471322..87473342,2	K562	blood:
4	chr7:87460038..87462907-chr7:87508297..87510823,2	MCF-7	breast:
5	chr7:87453245..87455859-chr7:87464176..87465981,2	K562	blood:
6	chr7:87460227..87461995-chr7:87504392..87506861,2	K562	blood:

Variant related genes	Relation type
ENSG00000006634	chromatin interactions
ENSG00000075303	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199978973	chr7:87461822-87461823	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372432946	chr7:87461829-87461830	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548081104	chr7:87461854-87461855	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563165453	chr7:87461868-87461869	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs559985983	chr7:87461879-87461880	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs575156411	chr7:87461917-87461918	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs60339765	chr7:87461933-87461934	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs397940290	chr7:87461935-87461936	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs397839450	chr7:87461982-87461983	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200864841	chr7:87461986-87461987	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs149788132	chr7:87462007-87462008	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs559563810	chr7:87462022-87462023	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs571594547	chr7:87462028-87462029	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538803160	chr7:87462036-87462037	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs17149933	chr7:87462055-87462056	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560707568	chr7:87462066-87462067	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200396434	chr7:87462074-87462075	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs182082752	chr7:87462085-87462086	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs535155733	chr7:87462098-87462099	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs372578202	chr7:87462099-87462100	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs145568013	chr7:87462103-87462104	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs546240835	chr7:87462123-87462124	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs555326457	chr7:87462187-87462188	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553272634	chr7:87462289-87462290	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564745171	chr7:87462290-87462291	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573546284	chr7:87462301-87462302	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117080509	chr7:87462383-87462384	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558312562	chr7:87462393-87462394	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576760727	chr7:87462420-87462421	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532138004	chr7:87462427-87462428	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555348647	chr7:87462455-87462456	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543978616	chr7:87462457-87462458	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs57465343	chr7:87462462-87462463	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs35127301	chr7:87462464-87462465	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs397976692	chr7:87462466-87462467	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10232457	chr7:87462515-87462516	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs187633125	chr7:87462518-87462519	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541588659	chr7:87462644-87462645	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs115203967	chr7:87462696-87462697	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188219643	chr7:87462698-87462699	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546075603	chr7:87462720-87462721	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375197344	chr7:87462724-87462725	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs199904408	chr7:87462749-87462750	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375808785	chr7:87462750-87462751	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565503369	chr7:87462754-87462755	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145804940	chr7:87462812-87462813	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11973634	chr7:87462834-87462835	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs151126531	chr7:87462898-87462899	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs57312656	chr7:87462902-87462903	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs17149937	chr7:87462961-87462962	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:79)

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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	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
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Burkitt''s lymphoma	19759907	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87455000-87474200	Weak transcription	Left Ventricle	heart
2	chr7:87455200-87473000	Weak transcription	Liver	Liver
3	chr7:87455200-87486600	Weak transcription	Brain Germinal Matrix	brain
4	chr7:87455400-87474200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:87457400-87474200	Weak transcription	Aorta	Aorta
6	chr7:87457800-87474200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:87458200-87478400	Weak transcription	Adipose Nuclei	Adipose
8	chr7:87458400-87478600	Weak transcription	Brain Anterior Caudate	brain
9	chr7:87458600-87469400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:87458600-87474400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:87458600-87480400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:87458800-87467600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:87459000-87466400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:87459000-87474200	Weak transcription	Primary B cells from cord blood	blood
15	chr7:87459000-87474400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:87459200-87482400	Weak transcription	A549	lung
17	chr7:87459400-87464800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:87459400-87474200	Weak transcription	Fetal Stomach	stomach
19	chr7:87459400-87474400	Weak transcription	HUVEC	blood vessel
20	chr7:87459600-87471600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:87459600-87473200	Weak transcription	Fetal Thymus	thymus
22	chr7:87459600-87474200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:87459600-87474600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:87459600-87474600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:87459800-87464800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:87459800-87474800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:87459800-87478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:87459800-87480600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:87460000-87464600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:87460000-87474400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:87460000-87474400	Weak transcription	Fetal Brain Female	brain
32	chr7:87460200-87466800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:87460200-87471800	Weak transcription	Fetal Brain Male	brain
34	chr7:87460200-87478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:87460400-87487200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:87460600-87463200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:87460600-87463600	Strong transcription	Dnd41	blood
38	chr7:87460600-87466800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:87460600-87474400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:87460600-87474400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:87460600-87481200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr7:87460600-87481600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr7:87460600-87498000	Weak transcription	Fetal Heart	heart
44	chr7:87460800-87462800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:87460800-87474400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:87461000-87463000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:87461000-87471400	Weak transcription	GM12878-XiMat	blood
48	chr7:87461000-87473400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr7:87461200-87471600	Weak transcription	K562	blood
50	chr7:87461200-87474200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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