Variant report

Variant	nsv947898
Chromosome Location	chr10:44124512-44127210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:44126104-44126180	A549	lung:	n/a	n/a
2	CEBPB	chr10:44126090-44126167	HepG2	liver:	n/a	n/a
3	CEBPB	chr10:44126104-44126126	K562	blood:	n/a	n/a
4	JUN	chr10:44125000-44125117	HepG2	liver:	n/a	chr10:44125023-44125036
5	JUND	chr10:44124897-44125163	HepG2	liver:	n/a	n/a
6	POLR2A	chr10:44127173-44127271	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr10:44125168-44125183	MCF-7	breast:	n/a	n/a
8	ZMIZ1	chr10:44126424-44126446	K562	blood:	n/a	n/a
9	ZNF263	chr10:44125084-44125415	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:44125188..44126781-chr10:44143124..44145486,2	K562	blood:
2	chr10:44119832..44124930-chr10:44125524..44130562,5	K562	blood:
3	chr10:44119832..44124930-chr10:44125524..44130562,5	K562	blood:
4	chr10:44100401..44102576-chr10:44125762..44128541,3	MCF-7	breast:
5	chr10:44121619..44124737-chr10:44140995..44143935,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF32-1	chr10:44126766-44127012	ENSG00000237389
2	lnc-ZNF485-5	chr10:44126395-44126830	NONHSAT012979
3	lnc-ZNF32-1	chr10:44126330-44126493	ENSG00000237389

No data

Variant related genes	Relation type
ENSG00000238263	TF binding region
ENSG00000237389	TF binding region
ENSG00000198298	chromatin interactions
ENSG00000237389	chromatin interactions
ENSG00000230565	chromatin interactions
ENSG00000169740	chromatin interactions
ENSG00000232004	chromatin interactions
ENSG00000238263	chromatin interactions
ENSG00000223910	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187716337	chr10:44124543-44124544	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs540166964	chr10:44124558-44124559	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs551771345	chr10:44124663-44124664	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs115251625	chr10:44124670-44124671	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs571095767	chr10:44124697-44124698	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs537613515	chr10:44124720-44124721	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs558357608	chr10:44124748-44124749	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs143301671	chr10:44124768-44124769	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs60643875	chr10:44124810-44124811	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10899846	chr10:44124901-44124902	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148319365	chr10:44124909-44124910	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546110348	chr10:44124914-44124915	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557606256	chr10:44124923-44124924	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575850147	chr10:44124936-44124937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs73260746	chr10:44124996-44124997	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531144374	chr10:44125035-44125036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs561852030	chr10:44125111-44125112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs73260748	chr10:44125139-44125140	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541158672	chr10:44125140-44125141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs559732914	chr10:44125151-44125152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs533152791	chr10:44125176-44125177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs193112751	chr10:44125228-44125229	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs567741541	chr10:44125238-44125239	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs372220057	chr10:44125250-44125251	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs537320516	chr10:44125333-44125334	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs556963723	chr10:44125337-44125338	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs531136466	chr10:44125375-44125376	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs182689194	chr10:44125392-44125393	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs372521538	chr10:44125410-44125411	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs563708111	chr10:44125439-44125440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147086128	chr10:44125441-44125442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553567885	chr10:44125495-44125496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187680434	chr10:44125520-44125521	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539032677	chr10:44125528-44125529	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs74138189	chr10:44125530-44125531	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577097171	chr10:44125533-44125534	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs192880492	chr10:44125554-44125555	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555184210	chr10:44125567-44125568	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs573740442	chr10:44125573-44125574	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs184131183	chr10:44125575-44125576	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs553246683	chr10:44125581-44125582	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs559560772	chr10:44125627-44125628	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533378581	chr10:44125645-44125646	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545380519	chr10:44125749-44125750	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs563974163	chr10:44125765-44125766	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs532269397	chr10:44125774-44125775	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs56908285	chr10:44125831-44125832	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567881387	chr10:44125841-44125842	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs572524755	chr10:44125844-44125845	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs373772769	chr10:44125913-44125914	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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