Variant report

Variant	nsv50
Chromosome Location	chr10:6393063-6422816
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:30)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6395424..6398413-chr10:6402841..6405147,2	K562	blood:
2	chr10:6407311..6409448-chr10:6446152..6447736,2	MCF-7	breast:
3	chr10:6364749..6366254-chr10:6407399..6408916,2	MCF-7	breast:
4	chr10:6398255..6400919-chr10:6404280..6406836,2	MCF-7	breast:
5	chr10:6338315..6339996-chr10:6419435..6421354,2	MCF-7	breast:
6	chr10:6243591..6245237-chr10:6402745..6405970,3	MCF-7	breast:
7	chr10:6243350..6246290-chr10:6394200..6396561,2	MCF-7	breast:
8	chr10:6244747..6246248-chr10:6416212..6418956,2	MCF-7	breast:
9	chr10:6419520..6421214-chr10:6432070..6433788,2	MCF-7	breast:
10	chr10:6243434..6246893-chr10:6418430..6422029,4	MCF-7	breast:
11	chr10:6395156..6397284-chr10:6402218..6404124,2	K562	blood:
12	chr10:6391698..6394411-chr10:6395057..6396798,2	K562	blood:
13	chr10:6394666..6396685-chr10:6425529..6427954,2	MCF-7	breast:
14	chr10:6273175..6275381-chr10:6405443..6408001,2	MCF-7	breast:
15	chr10:6359485..6361355-chr10:6417386..6419861,2	MCF-7	breast:
16	chr10:6395424..6398413-chr10:6402841..6405147,2	K562	blood:
17	chr10:6244771..6246608-chr10:6406133..6408869,3	MCF-7	breast:
18	chr10:6338433..6344348-chr10:6402915..6408706,10	MCF-7	breast:
19	chr10:6395156..6397284-chr10:6402218..6404124,2	K562	blood:
20	chr10:6409518..6411373-chr10:6428852..6430851,2	MCF-7	breast:
21	chr10:6243793..6245448-chr10:6404864..6407182,2	MCF-7	breast:
22	chr10:6337874..6340921-chr10:6402269..6405461,3	MCF-7	breast:
23	chr10:6204481..6206489-chr10:6404115..6406824,2	MCF-7	breast:
24	chr10:6339998..6340580-chr10:6405184..6406141,2	MCF-7	breast:
25	chr10:6409324..6412633-chr10:6424291..6427904,3	MCF-7	breast:
26	chr10:6400244..6402480-chr10:6406686..6408396,2	MCF-7	breast:
27	chr10:6405295..6407901-chr10:6440170..6443280,3	MCF-7	breast:
28	chr10:6421837..6423700-chr10:6429679..6431560,2	MCF-7	breast:
29	chr10:6398255..6400919-chr10:6404280..6406836,2	MCF-7	breast:
30	chr10:6400244..6402480-chr10:6406686..6408396,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL137145.1-7	chr10:6408557-6408611	l_250_chr10:6408556-6410104_lung
2	lnc-AL137145.1-7	chr10:6409900-6410104	l_250_chr10:6408556-6410104_lung

No data

Variant related genes	Relation type
ENSG00000212743	chromatin interactions
ENSG00000170525	chromatin interactions
ENSG00000213994	chromatin interactions

Extended variants
information (count: 968 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:968 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529424879	chr10:6393066-6393067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370251958	chr10:6393074-6393075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550696819	chr10:6393117-6393118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562659840	chr10:6393123-6393124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189918749	chr10:6393138-6393139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556959646	chr10:6393176-6393177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74474901	chr10:6393185-6393186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571585268	chr10:6393190-6393191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566820521	chr10:6393217-6393218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4750316	chr10:6393260-6393261	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
11	rs141349482	chr10:6393346-6393347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145131413	chr10:6393351-6393352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535659885	chr10:6393360-6393361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77686179	chr10:6393400-6393401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557163214	chr10:6393410-6393411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151303456	chr10:6393477-6393478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539476106	chr10:6393498-6393499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534254403	chr10:6393499-6393500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183749583	chr10:6393512-6393513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189060160	chr10:6393531-6393532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192818094	chr10:6393668-6393669	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs59072983	chr10:6393707-6393708	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs150769387	chr10:6393708-6393709	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs546477228	chr10:6393710-6393711	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs568289066	chr10:6393713-6393714	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs139342028	chr10:6393718-6393719	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs74814328	chr10:6393719-6393720	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs75865463	chr10:6393720-6393721	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs397768424	chr10:6393722-6393723	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs140150034	chr10:6393807-6393808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150329471	chr10:6393839-6393840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs137870282	chr10:6393936-6393937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149467095	chr10:6393946-6393947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545477713	chr10:6393953-6393954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560333765	chr10:6393968-6393969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527666327	chr10:6393997-6393998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549360869	chr10:6394151-6394152	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs564613744	chr10:6394186-6394187	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs568383662	chr10:6394292-6394293	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529152478	chr10:6394293-6394294	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs58615475	chr10:6394319-6394320	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs550801441	chr10:6394334-6394335	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs372880723	chr10:6394362-6394363	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs146821853	chr10:6394363-6394364	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs569023492	chr10:6394382-6394383	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs577481610	chr10:6394402-6394403	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs539205482	chr10:6394412-6394413	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs56767327	chr10:6394414-6394415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529161022	chr10:6394416-6394417	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs61297880	chr10:6394417-6394418	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6357200-6397400	Weak transcription	Pancreas	Pancrea
2	chr10:6390000-6393600	Weak transcription	Lung	lung
3	chr10:6390200-6396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:6390600-6393600	Weak transcription	A549	lung
5	chr10:6390600-6396600	Weak transcription	Aorta	Aorta
6	chr10:6390600-6397200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:6390800-6393200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr10:6391000-6393200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr10:6391000-6393400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr10:6391200-6393200	Enhancers	GM12878-XiMat	blood
11	chr10:6391200-6396200	Weak transcription	Fetal Brain Female	brain
12	chr10:6391600-6395800	Weak transcription	Fetal Brain Male	brain
13	chr10:6391800-6393200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:6392200-6393200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr10:6393200-6393800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr10:6393200-6394000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr10:6393400-6393600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:6393400-6394000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr10:6393600-6393800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:6393600-6393800	Enhancers	Lung	lung
21	chr10:6393600-6393800	Flanking Active TSS	A549	lung
22	chr10:6393600-6393800	Bivalent Enhancer	NHDF-Ad	bronchial
23	chr10:6393800-6394000	Enhancers	A549	lung
24	chr10:6394000-6394200	Flanking Active TSS	A549	lung
25	chr10:6394200-6396800	Enhancers	A549	lung
26	chr10:6395400-6395600	Enhancers	HepG2	liver
27	chr10:6395400-6395800	Enhancers	Liver	Liver
28	chr10:6395800-6396800	Enhancers	Fetal Brain Male	brain
29	chr10:6396200-6396600	Enhancers	Fetal Brain Female	brain
30	chr10:6396400-6396800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr10:6396600-6396800	ZNF genes & repeats	Aorta	Aorta
32	chr10:6396600-6398000	ZNF genes & repeats	Left Ventricle	heart
33	chr10:6396800-6397200	Weak transcription	A549	lung
34	chr10:6396800-6410800	Weak transcription	Aorta	Aorta
35	chr10:6397200-6397600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr10:6397200-6397600	ZNF genes & repeats	A549	lung
37	chr10:6397400-6397600	Enhancers	Pancreas	Pancrea
38	chr10:6397600-6403400	Weak transcription	Pancreas	Pancrea
39	chr10:6398000-6403200	Weak transcription	Left Ventricle	heart
40	chr10:6402400-6405600	Weak transcription	Stomach Mucosa	stomach
41	chr10:6402600-6403000	ZNF genes & repeats	A549	lung
42	chr10:6402600-6405000	Weak transcription	Psoas Muscle	Psoas
43	chr10:6403000-6403200	Weak transcription	Ovary	ovary
44	chr10:6403000-6406800	Weak transcription	A549	lung
45	chr10:6403000-6407000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr10:6403200-6403400	ZNF genes & repeats	Ovary	ovary
47	chr10:6403200-6403800	ZNF genes & repeats	Left Ventricle	heart
48	chr10:6403400-6403600	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr10:6403400-6403600	Enhancers	Gastric	stomach
50	chr10:6403400-6403600	Enhancers	Pancreas	Pancrea

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