Variant report

Variant	nsv947729
Chromosome Location	chr10:5345490-5347794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:5347420-5347570	BE2_C	brain:	n/a	n/a
2	CTCF	chr10:5347380-5347530	NHDF-neo	bronchial:	n/a	n/a
3	CTCF	chr10:5347740-5347890	AG09319	gingival:	n/a	n/a
4	CTCF	chr10:5347500-5347650	HFF	foreskin:	n/a	n/a
5	CTCF	chr10:5347440-5347590	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr10:5347475-5347594	K562	blood:	n/a	n/a
7	CTCF	chr10:5347440-5347590	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr10:5347360-5347510	HCM	heart:	n/a	n/a
9	CTCF	chr10:5347460-5347610	AG04449	skin:	n/a	n/a
10	CTCF	chr10:5347440-5347590	AG09319	gingival:	n/a	n/a
11	CTCF	chr10:5347440-5347590	HVMF	connective:	n/a	n/a
12	CTCF	chr10:5347360-5347510	BE2_C	brain:	n/a	n/a
13	CTCF	chr10:5347442-5347600	MCF-7	breast:	n/a	n/a
14	CTCF	chr10:5347440-5347590	HCFaa	heart:	n/a	n/a
15	CTCF	chr10:5347460-5347610	AG10803	skin:	n/a	n/a
16	CTCF	chr10:5347438-5347611	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr10:5347440-5347590	AG10803	skin:	n/a	n/a
18	CTCF	chr10:5347480-5347630	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr10:5347477-5347578	MCF-7	breast:	n/a	n/a
20	CTCF	chr10:5347460-5347610	HVMF	connective:	n/a	n/a
21	CTCF	chr10:5347424-5347625	Fibrobl	skin:	n/a	n/a
22	CTCF	chr10:5347420-5347570	AG04449	skin:	n/a	n/a
23	CTCF	chr10:5347430-5347546	HepG2	liver:	n/a	n/a
24	CTCF	chr10:5347580-5347730	GM12864	blood:	n/a	n/a
25	CTCF	chr10:5347460-5347610	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr10:5347500-5347650	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr10:5347460-5347610	HMF	breast:	n/a	n/a
28	CTCF	chr10:5347420-5347570	MCF-7	breast:	n/a	n/a
29	CTCF	chr10:5347480-5347630	BJ	skin:	n/a	n/a
30	CTCF	chr10:5347420-5347570	AG09309	skin:	n/a	n/a
31	CTCF	chr10:5347460-5347610	HA-sp	spinal cord:	n/a	n/a
32	CTCF	chr10:5347440-5347590	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr10:5347440-5347590	AG09309	skin:	n/a	n/a
34	CTCF	chr10:5347430-5347644	ProgFib	skin:	n/a	n/a
35	CTCF	chr10:5347420-5347570	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr10:5347460-5347610	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr10:5347460-5347610	HepG2	liver:	n/a	n/a
38	CTCF	chr10:5347196-5347867	SK-N-SH	brain:	n/a	n/a
39	CTCF	chr10:5347400-5347550	NHLF	lung:	n/a	n/a
40	CTCF	chr10:5347380-5347530	HFF-Myc	foreskin:	n/a	n/a
41	CTCF	chr10:5347355-5347587	K562	blood:	n/a	n/a
42	CTCF	chr10:5347560-5347710	HCM	heart:	n/a	n/a
43	CTCF	chr10:5347420-5347570	HMF	breast:	n/a	n/a
44	CTCF	chr10:5347460-5347610	BJ	skin:	n/a	n/a
45	CTCF	chr10:5347460-5347610	AoAF	blood vessel:	n/a	n/a
46	JUND	chr10:5347516-5347601	K562	blood:	n/a	n/a
47	RAD21	chr10:5347341-5347657	HepG2	liver:	n/a	n/a
48	RAD21	chr10:5347398-5347641	SK-N-SH_RA	brain:	n/a	n/a
49	RAD21	chr10:5347454-5347570	K562	blood:	n/a	n/a
50	RAD21	chr10:5347401-5347700	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5344285..5346013-chr10:5348255..5349922,2	K562	blood:
2	chr10:5343873..5346040-chr10:5352452..5353968,2	MCF-7	breast:
3	chr10:5347252..5349655-chr10:5350748..5353704,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TUBAL3-1	chr10:5346394-5346828	NONHSAT011148

No data

Variant related genes	Relation type
ENSG00000223987	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188779094	chr10:5345532-5345533	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs4448600	chr10:5345568-5345569	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548152206	chr10:5345579-5345580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs193210499	chr10:5345652-5345653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11253084	chr10:5345656-5345657	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184502700	chr10:5345657-5345658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11253085	chr10:5345699-5345700	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530032033	chr10:5345724-5345725	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11594354	chr10:5345743-5345744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188272777	chr10:5345775-5345776	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149081350	chr10:5345789-5345790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530522767	chr10:5345868-5345869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544354202	chr10:5345872-5345873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552272954	chr10:5345891-5345892	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530445979	chr10:5345899-5345900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570575593	chr10:5345900-5345901	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143145679	chr10:5345919-5345920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11253086	chr10:5345926-5345927	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191871748	chr10:5345930-5345931	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536183230	chr10:5345956-5345957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116000295	chr10:5345957-5345958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575194752	chr10:5345972-5345973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545817806	chr10:5345979-5345980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146574703	chr10:5346003-5346004	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141303469	chr10:5346009-5346010	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573036066	chr10:5346037-5346038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114401467	chr10:5346040-5346041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559546939	chr10:5346049-5346050	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529937458	chr10:5346051-5346052	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368858763	chr10:5346072-5346073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6601942	chr10:5346085-5346086	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563595821	chr10:5346086-5346087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56351130	chr10:5346093-5346094	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs373173939	chr10:5346139-5346140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570538666	chr10:5346150-5346151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528234533	chr10:5346152-5346153	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546867341	chr10:5346157-5346158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184100872	chr10:5346179-5346180	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568533835	chr10:5346190-5346191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559705721	chr10:5346211-5346212	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557205755	chr10:5346244-5346245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569226541	chr10:5346258-5346259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539433982	chr10:5346288-5346289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557759446	chr10:5346290-5346291	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58235097	chr10:5346346-5346347	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369959074	chr10:5346356-5346357	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573254171	chr10:5346417-5346418	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs540761727	chr10:5346425-5346426	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs188537761	chr10:5346530-5346531	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs144939551	chr10:5346542-5346543	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Ovarian cancer	22355333	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5336400-5347600	Weak transcription	Pancreas	Pancrea
2	chr10:5340400-5345600	Weak transcription	Primary T cells from cord blood	blood
3	chr10:5340400-5356200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr10:5340400-5359800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:5340600-5355800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr10:5341200-5345600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr10:5341600-5345600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr10:5341600-5355600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr10:5345200-5346200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
10	chr10:5345400-5345800	ZNF genes & repeats	Dnd41	blood
11	chr10:5345600-5345800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
12	chr10:5345600-5346000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
13	chr10:5345600-5346400	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr10:5345800-5355000	Weak transcription	Dnd41	blood
15	chr10:5346000-5355600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr10:5346200-5355600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr10:5347000-5348200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:5347400-5347800	Enhancers	Adipose Nuclei	Adipose
19	chr10:5347400-5348200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:5347600-5347800	Enhancers	NHDF-Ad	bronchial
21	chr10:5347600-5348000	Enhancers	Pancreas	Pancrea

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