Variant report

Variant	nsv947732
Chromosome Location	chr10:6488907-6489871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:6486742..6489552-chr10:6709675..6712349,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77047902	chr10:6488909-6488910	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556311736	chr10:6488913-6488914	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577743160	chr10:6488945-6488946	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545157748	chr10:6489000-6489001	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560576083	chr10:6489001-6489002	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565340138	chr10:6489032-6489033	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75594212	chr10:6489051-6489052	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527687677	chr10:6489070-6489071	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547019300	chr10:6489088-6489089	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373946838	chr10:6489107-6489108	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs655732	chr10:6489109-6489110	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34437065	chr10:6489141-6489142	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541380635	chr10:6489142-6489143	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568217408	chr10:6489145-6489146	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151178666	chr10:6489167-6489168	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs386740455	chr10:6489168-6489169	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538304066	chr10:6489170-6489171	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536191543	chr10:6489174-6489175	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550819356	chr10:6489197-6489198	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562654765	chr10:6489216-6489217	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536855210	chr10:6489242-6489243	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7101262	chr10:6489261-6489262	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532462859	chr10:6489292-6489293	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566516984	chr10:6489301-6489302	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533565290	chr10:6489312-6489313	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548538122	chr10:6489330-6489331	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34480213	chr10:6489349-6489350	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79728996	chr10:6489357-6489358	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151312430	chr10:6489369-6489370	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567641247	chr10:6489389-6489390	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538127860	chr10:6489397-6489398	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556375578	chr10:6489398-6489399	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536083914	chr10:6489406-6489407	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12761250	chr10:6489414-6489415	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141824114	chr10:6489452-6489453	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537214017	chr10:6489475-6489476	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539175807	chr10:6489513-6489514	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147122433	chr10:6489524-6489525	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572467873	chr10:6489557-6489558	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577295202	chr10:6489566-6489567	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11812141	chr10:6489649-6489650	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs688391	chr10:6489652-6489653	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368437076	chr10:6489675-6489676	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544507561	chr10:6489678-6489679	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562718012	chr10:6489725-6489726	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187161161	chr10:6489741-6489742	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138457236	chr10:6489742-6489743	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551515475	chr10:6489744-6489745	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs688853	chr10:6489773-6489774	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs668705	chr10:6489783-6489784	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6456200-6496600	Weak transcription	Pancreas	Pancrea
2	chr10:6464600-6490600	Strong transcription	Primary T cells from cord blood	blood
3	chr10:6465800-6496200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:6465800-6496600	Weak transcription	Psoas Muscle	Psoas
5	chr10:6465800-6501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:6467400-6496200	Weak transcription	Lung	lung
7	chr10:6468200-6496800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr10:6471200-6490200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:6474200-6490400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:6477400-6503600	Weak transcription	Gastric	stomach
11	chr10:6478800-6491000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:6480200-6501000	Weak transcription	Ovary	ovary
13	chr10:6480800-6497600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:6481200-6500200	Weak transcription	Fetal Intestine Small	intestine
15	chr10:6481400-6497800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr10:6484000-6489400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr10:6484000-6489400	Weak transcription	Fetal Muscle Leg	muscle
18	chr10:6484000-6496200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:6484200-6496200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr10:6484200-6496400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr10:6484600-6489400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr10:6484600-6496600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:6487200-6489000	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr10:6487200-6490600	Genic enhancers	Fetal Thymus	thymus
25	chr10:6488200-6489400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr10:6488200-6489400	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr10:6488200-6489600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr10:6488200-6489600	Weak transcription	Brain Angular Gyrus	brain
29	chr10:6488200-6496200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr10:6488200-6496200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:6488200-6496200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr10:6488200-6496200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr10:6488200-6496200	Weak transcription	Brain Substantia Nigra	brain
34	chr10:6488200-6496400	Weak transcription	Adipose Nuclei	Adipose
35	chr10:6488200-6496400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr10:6488200-6497600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr10:6488200-6499600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr10:6488200-6500200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr10:6488200-6502000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:6488400-6489200	Weak transcription	Fetal Stomach	stomach
41	chr10:6488400-6489400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr10:6488400-6489400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr10:6488400-6489600	Weak transcription	Brain Hippocampus Middle	brain
44	chr10:6488400-6490600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr10:6488400-6490800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr10:6488400-6496600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr10:6488400-6496600	Weak transcription	Brain Anterior Caudate	brain
48	chr10:6488400-6500200	Weak transcription	Esophagus	oesophagus
49	chr10:6488400-6506800	Weak transcription	K562	blood
50	chr10:6488600-6490200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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