Variant report

Variant	nsv550226
Chromosome Location	chr10:25653017-25693426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:25673532-25673891	MCF-7	breast:	n/a	n/a
2	CEBPB	chr10:25656131-25656310	K562	blood:	n/a	n/a
3	CEBPB	chr10:25678311-25678511	HepG2	liver:	n/a	chr10:25678448-25678459
4	CEBPB	chr10:25673557-25674053	MCF-7	breast:	n/a	n/a
5	CTCF	chr10:25680852-25680911	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr10:25670465-25670485	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr10:25671020-25671170	BE2_C	brain:	n/a	n/a
8	E2F4	chr10:25654061-25654429	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr10:25673576-25673889	MCF-7	breast:	n/a	n/a
10	EP300	chr10:25673576-25673866	T-47D	breast:	n/a	n/a
11	EP300	chr10:25672647-25673154	T-47D	breast:	n/a	n/a
12	EP300	chr10:25673492-25674055	MCF-7	breast:	n/a	n/a
13	EP300	chr10:25671254-25671713	T-47D	breast:	n/a	chr10:25671600-25671609
14	EP300	chr10:25673550-25674082	T-47D	breast:	n/a	n/a
15	EP300	chr10:25674549-25675010	T-47D	breast:	n/a	n/a
16	ESR1	chr10:25672792-25673148	T-47D	breast:	n/a	n/a
17	ESR1	chr10:25673550-25674014	T-47D	breast:	n/a	n/a
18	ESR1	chr10:25673589-25673842	T-47D	breast:	n/a	n/a
19	ESR1	chr10:25673530-25674036	T-47D	breast:	n/a	n/a
20	ESR1	chr10:25672754-25673218	T-47D	breast:	n/a	n/a
21	ESR1	chr10:25672777-25673204	T-47D	breast:	n/a	n/a
22	ESR1	chr10:25674543-25674963	T-47D	breast:	n/a	n/a
23	ESR1	chr10:25673573-25673997	T-47D	breast:	n/a	n/a
24	ESR1	chr10:25671345-25671720	T-47D	breast:	n/a	n/a
25	ESR1	chr10:25673504-25673886	T-47D	breast:	n/a	n/a
26	ESR1	chr10:25673545-25673995	T-47D	breast:	n/a	n/a
27	ESR1	chr10:25674553-25674884	T-47D	breast:	n/a	n/a
28	ESR1	chr10:25671349-25671711	T-47D	breast:	n/a	n/a
29	ESR1	chr10:25674463-25674912	T-47D	breast:	n/a	n/a
30	ESR1	chr10:25674554-25674829	T-47D	breast:	n/a	n/a
31	ESR1	chr10:25672754-25673231	T-47D	breast:	n/a	n/a
32	FOS	chr10:25682169-25682234	MCF10A-Er-Src	breast:	n/a	chr10:25682175-25682185 chr10:25682196-25682203 chr10:25682195-25682203 chr10:25682195-25682203 chr10:25682176-25682184 chr10:25682175-25682185 chr10:25682175-25682185 chr10:25682175-25682185
33	FOS	chr10:25682169-25682174	MCF10A-Er-Src	breast:	n/a	n/a
34	FOXA1	chr10:25673591-25673856	T-47D	breast:	n/a	n/a
35	FOXA1	chr10:25672728-25672965	T-47D	breast:	n/a	n/a
36	FOXA1	chr10:25674191-25674480	T-47D	breast:	n/a	n/a
37	FOXA1	chr10:25671407-25671724	T-47D	breast:	n/a	chr10:25671504-25671516
38	FOXA1	chr10:25670722-25671114	T-47D	breast:	n/a	chr10:25670795-25670810
39	FOXA1	chr10:25673540-25673889	T-47D	breast:	n/a	n/a
40	FOXA1	chr10:25670356-25670595	T-47D	breast:	n/a	n/a
41	FOXA1	chr10:25670741-25671102	T-47D	breast:	n/a	chr10:25670795-25670810
42	FOXA1	chr10:25672751-25673139	T-47D	breast:	n/a	chr10:25673018-25673030
43	FOXM1	chr10:25673393-25674192	MCF-7	breast:	n/a	n/a
44	FOXM1	chr10:25673521-25674019	MCF-7	breast:	n/a	n/a
45	FOXP2	chr10:25683385-25683582	SK-N-MC	brain:	n/a	n/a
46	GATA3	chr10:25673499-25673989	T-47D	breast:	n/a	n/a
47	GATA3	chr10:25671360-25671671	T-47D	breast:	n/a	chr10:25671468-25671475 chr10:25671468-25671475 chr10:25671468-25671475 chr10:25671463-25671479 chr10:25671457-25671474 chr10:25671461-25671482
48	GATA3	chr10:25673517-25674017	MCF-7	breast:	n/a	n/a
49	GATA3	chr10:25670084-25670516	T-47D	breast:	n/a	n/a
50	GATA3	chr10:25682571-25682979	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:25619809..25622342-chr10:25664183..25666056,2	K562	blood:
2	chr10:25667594..25669629-chr10:25671940..25673892,2	MCF-7	breast:
3	chr10:25670945..25672971-chr10:25675542..25677889,2	K562	blood:
4	chr10:25673293..25674174-chr10:25782368..25783117,5	MCF-7	breast:
5	chr10:25667594..25669629-chr10:25671940..25673892,2	MCF-7	breast:
6	chr10:25670945..25672971-chr10:25675542..25677889,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ENKUR-6	chr10:25682486-25682773	NONHSAT011803

Variant related genes	Relation type
RN7SKP220	TF binding region

Extended variants
information (count: 940 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:940 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533212034	chr10:25670109-25670110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543604425	chr10:25670204-25670205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543468482	chr10:25670207-25670208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550138542	chr10:25670266-25670267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60526089	chr10:25670267-25670268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375823645	chr10:25670268-25670269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs397687343	chr10:25670274-25670275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397978859	chr10:25670434-25670435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12265226	chr10:25670435-25670436	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs529127619	chr10:25670491-25670492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532449660	chr10:25670492-25670493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548683124	chr10:25670531-25670532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568510715	chr10:25670572-25670573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371106366	chr10:25670603-25670604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534057951	chr10:25670621-25670622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547724491	chr10:25670641-25670642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7094566	chr10:25670686-25670687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182213832	chr10:25670695-25670696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556487232	chr10:25670707-25670708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576207826	chr10:25670708-25670709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540952091	chr10:25670805-25670806	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535687005	chr10:25670835-25670836	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555704694	chr10:25670895-25670896	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs113203389	chr10:25670917-25670918	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs528107864	chr10:25670930-25670931	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs528729112	chr10:25670951-25670952	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs540778230	chr10:25671023-25671024	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs1628986	chr10:25671025-25671026	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577757085	chr10:25671033-25671034	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs117492867	chr10:25671057-25671058	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs563605999	chr10:25671061-25671062	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12220000	chr10:25671094-25671095	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs188952454	chr10:25671103-25671104	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs559289393	chr10:25671113-25671114	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs1754252	chr10:25671163-25671164	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547618559	chr10:25671195-25671196	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs377075269	chr10:25671207-25671208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181525074	chr10:25671232-25671233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113716617	chr10:25671239-25671240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569701139	chr10:25671277-25671278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563376457	chr10:25671314-25671315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142991273	chr10:25671322-25671323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569980705	chr10:25671330-25671331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201606350	chr10:25671353-25671354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs5783927	chr10:25671354-25671355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535748762	chr10:25671364-25671365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186214866	chr10:25671372-25671373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566182100	chr10:25671374-25671375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1754253	chr10:25671382-25671383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557594363	chr10:25671425-25671426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21525872	CNVD
Cancer	20164919	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25670000-25673200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr10:25670200-25673400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:25670600-25670800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr10:25670800-25671000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:25670800-25671200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr10:25670800-25671200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr10:25670800-25671200	Enhancers	Brain Cingulate Gyrus	brain
8	chr10:25670800-25671400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:25670800-25671600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:25670800-25672600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr10:25671000-25671200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr10:25671000-25671200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr10:25671000-25671200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr10:25671000-25671200	Enhancers	Brain Anterior Caudate	brain
15	chr10:25671000-25671200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr10:25671000-25671400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr10:25671000-25677000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:25671200-25671600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:25671200-25672200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr10:25671200-25672200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr10:25671200-25672200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr10:25671400-25671800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr10:25671400-25672400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:25671400-25672400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr10:25671600-25671800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:25671800-25673000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr10:25672000-25673000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:25672200-25672800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr10:25672200-25673000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr10:25672400-25672600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr10:25672400-25672600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr10:25672400-25672800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr10:25672600-25672800	Enhancers	Brain Anterior Caudate	brain
34	chr10:25673000-25677200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:25673000-25679200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr10:25677000-25677800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:25677200-25677400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:25677200-25678000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:25677200-25678200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:25677200-25680000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr10:25679800-25681400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:25680000-25680600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr10:25680600-25686000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr10:25681000-25681200	Weak transcription	Right Atrium	heart
45	chr10:25681200-25681400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr10:25686000-25686400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr10:25686400-25686600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr10:25686600-25687200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr10:25687000-25688400	Enhancers	Gastric	stomach
50	chr10:25687200-25697800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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