Variant report

Variant	nsv508567
Chromosome Location	chr10:6407682-6427637
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:22)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6338315..6339996-chr10:6419435..6421354,2	MCF-7	breast:
2	chr10:6421837..6423700-chr10:6429679..6431560,2	MCF-7	breast:
3	chr10:6364749..6366254-chr10:6407399..6408916,2	MCF-7	breast:
4	chr10:6409324..6412633-chr10:6424291..6427904,3	MCF-7	breast:
5	chr10:6242967..6246327-chr10:6423283..6428365,4	MCF-7	breast:
6	chr10:6419520..6421214-chr10:6432070..6433788,2	MCF-7	breast:
7	chr10:6426504..6429518-chr10:6435004..6438172,3	MCF-7	breast:
8	chr10:6273175..6275381-chr10:6405443..6408001,2	MCF-7	breast:
9	chr10:6338433..6344348-chr10:6402915..6408706,10	MCF-7	breast:
10	chr10:6244747..6246248-chr10:6416212..6418956,2	MCF-7	breast:
11	chr10:6243434..6246893-chr10:6418430..6422029,4	MCF-7	breast:
12	chr10:6394666..6396685-chr10:6425529..6427954,2	MCF-7	breast:
13	chr10:6423351..6425174-chr10:6425567..6427975,2	MCF-7	breast:
14	chr10:6409324..6412633-chr10:6424291..6427904,3	MCF-7	breast:
15	chr10:6400244..6402480-chr10:6406686..6408396,2	MCF-7	breast:
16	chr10:6243729..6245988-chr10:6425970..6427736,2	MCF-7	breast:
17	chr10:6405295..6407901-chr10:6440170..6443280,3	MCF-7	breast:
18	chr10:6244771..6246608-chr10:6406133..6408869,3	MCF-7	breast:
19	chr10:6423351..6425174-chr10:6425567..6427975,2	MCF-7	breast:
20	chr10:6407311..6409448-chr10:6446152..6447736,2	MCF-7	breast:
21	chr10:6409518..6411373-chr10:6428852..6430851,2	MCF-7	breast:
22	chr10:6359485..6361355-chr10:6417386..6419861,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000170525	chromatin interactions
ENSG00000213994	chromatin interactions

Extended variants
information (count: 606 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189341303	chr10:6407685-6407686	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138913932	chr10:6407689-6407690	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141410305	chr10:6407722-6407723	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11258317	chr10:6407737-6407738	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
5	rs10906344	chr10:6407830-6407831	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527260584	chr10:6407837-6407838	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528344260	chr10:6407843-6407844	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs180864148	chr10:6407877-6407878	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185236180	chr10:6407908-6407909	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150391748	chr10:6407914-6407915	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561713687	chr10:6407919-6407920	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529032836	chr10:6407920-6407921	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138148753	chr10:6407933-6407934	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376635128	chr10:6408042-6408043	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149633175	chr10:6408048-6408049	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369315800	chr10:6408056-6408057	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147329968	chr10:6408090-6408091	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566839955	chr10:6408106-6408107	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534210157	chr10:6408107-6408108	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529676472	chr10:6408120-6408121	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567753384	chr10:6408220-6408221	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538376551	chr10:6408254-6408255	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556701851	chr10:6408277-6408278	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs578108015	chr10:6408301-6408302	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545437742	chr10:6408318-6408319	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554171019	chr10:6408325-6408326	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573121843	chr10:6408334-6408335	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540155674	chr10:6408338-6408339	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140901575	chr10:6408358-6408359	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529089837	chr10:6408451-6408452	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531409617	chr10:6408465-6408466	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75184694	chr10:6408469-6408470	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532830226	chr10:6408501-6408502	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs550996619	chr10:6408515-6408516	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549907862	chr10:6408593-6408594	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs566322645	chr10:6408644-6408645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143239260	chr10:6408695-6408696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549400755	chr10:6408701-6408702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567907862	chr10:6408703-6408704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs35654141	chr10:6408709-6408710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538056449	chr10:6408720-6408721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556765165	chr10:6408758-6408759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571781923	chr10:6408767-6408768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190881749	chr10:6408782-6408783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183388151	chr10:6408842-6408843	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11817640	chr10:6408872-6408873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571672551	chr10:6408946-6408947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376273311	chr10:6408947-6408948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369589136	chr10:6408951-6408952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549785465	chr10:6408960-6408961	Weak transcription Enhancers	n/a	n/a	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:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6396800-6410800	Weak transcription	Aorta	Aorta
2	chr10:6403400-6410200	Weak transcription	Ovary	ovary
3	chr10:6406200-6409800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr10:6406800-6407800	Enhancers	Liver	Liver
5	chr10:6406800-6407800	Enhancers	Fetal Heart	heart
6	chr10:6406800-6408000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:6406800-6408000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:6406800-6408000	Enhancers	A549	lung
9	chr10:6406800-6408200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:6406800-6408600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr10:6406800-6409200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:6407000-6407800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr10:6407000-6407800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:6407000-6408000	Enhancers	Stomach Mucosa	stomach
15	chr10:6407000-6408000	Enhancers	HepG2	liver
16	chr10:6407000-6408400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr10:6407000-6408400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:6407000-6408400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:6407000-6408600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr10:6407000-6409000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr10:6407000-6410400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr10:6407200-6407800	Enhancers	HSMMtube	muscle
23	chr10:6407200-6408800	Weak transcription	Pancreas	Pancrea
24	chr10:6407400-6408000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr10:6407400-6408000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr10:6407400-6408200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr10:6407400-6422000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr10:6407600-6407800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr10:6407600-6407800	Enhancers	Fetal Intestine Small	intestine
30	chr10:6407800-6408000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr10:6408000-6408800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr10:6408000-6409000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr10:6408000-6409200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr10:6408200-6409000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr10:6408400-6409000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:6408400-6409200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr10:6408600-6409800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr10:6408600-6410000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr10:6408800-6410000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr10:6409000-6409200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:6409000-6409200	Enhancers	Pancreas	Pancrea
42	chr10:6409000-6410000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr10:6409200-6409400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr10:6409200-6409600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr10:6409200-6411600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr10:6409400-6410800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr10:6409600-6410000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr10:6409800-6410400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr10:6409800-6410600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr10:6410000-6410200	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links