Variant report

Variant	esv3342880
Chromosome Location	chr10:25644995-25682820
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	chr10:25656131-25656310	K562	blood:	n/a	n/a
2	CEBPB	chr10:25673557-25674053	MCF-7	breast:	n/a	n/a
3	CEBPB	chr10:25673532-25673891	MCF-7	breast:	n/a	n/a
4	CEBPB	chr10:25678311-25678511	HepG2	liver:	n/a	chr10:25678448-25678459
5	CTCF	chr10:25670465-25670485	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr10:25671020-25671170	BE2_C	brain:	n/a	n/a
7	CTCF	chr10:25680852-25680911	Kidney_OC	kidney:	n/a	n/a
8	E2F4	chr10:25654061-25654429	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr10:25673576-25673866	T-47D	breast:	n/a	n/a
10	EP300	chr10:25674549-25675010	T-47D	breast:	n/a	n/a
11	EP300	chr10:25673492-25674055	MCF-7	breast:	n/a	n/a
12	EP300	chr10:25672647-25673154	T-47D	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	chr10:25673576-25673889	MCF-7	breast:	n/a	n/a
16	ESR1	chr10:25674543-25674963	T-47D	breast:	n/a	n/a
17	ESR1	chr10:25672754-25673231	T-47D	breast:	n/a	n/a
18	ESR1	chr10:25673545-25673995	T-47D	breast:	n/a	n/a
19	ESR1	chr10:25673589-25673842	T-47D	breast:	n/a	n/a
20	ESR1	chr10:25673573-25673997	T-47D	breast:	n/a	n/a
21	ESR1	chr10:25671345-25671720	T-47D	breast:	n/a	n/a
22	ESR1	chr10:25674553-25674884	T-47D	breast:	n/a	n/a
23	ESR1	chr10:25672754-25673218	T-47D	breast:	n/a	n/a
24	ESR1	chr10:25672777-25673204	T-47D	breast:	n/a	n/a
25	ESR1	chr10:25671349-25671711	T-47D	breast:	n/a	n/a
26	ESR1	chr10:25673530-25674036	T-47D	breast:	n/a	n/a
27	ESR1	chr10:25673550-25674014	T-47D	breast:	n/a	n/a
28	ESR1	chr10:25674463-25674912	T-47D	breast:	n/a	n/a
29	ESR1	chr10:25673504-25673886	T-47D	breast:	n/a	n/a
30	ESR1	chr10:25674554-25674829	T-47D	breast:	n/a	n/a
31	ESR1	chr10:25672792-25673148	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	chr10:25672728-25672965	T-47D	breast:	n/a	n/a
35	FOXA1	chr10:25673591-25673856	T-47D	breast:	n/a	n/a
36	FOXA1	chr10:25670741-25671102	T-47D	breast:	n/a	chr10:25670795-25670810
37	FOXA1	chr10:25670356-25670595	T-47D	breast:	n/a	n/a
38	FOXA1	chr10:25674191-25674480	T-47D	breast:	n/a	n/a
39	FOXA1	chr10:25672751-25673139	T-47D	breast:	n/a	chr10:25673018-25673030
40	FOXA1	chr10:25671407-25671724	T-47D	breast:	n/a	chr10:25671504-25671516
41	FOXA1	chr10:25670722-25671114	T-47D	breast:	n/a	chr10:25670795-25670810
42	FOXA1	chr10:25673540-25673889	T-47D	breast:	n/a	n/a
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	GATA3	chr10:25673549-25674130	MCF-7	breast:	n/a	n/a
46	GATA3	chr10:25656602-25657011	MCF-7	breast:	n/a	n/a
47	GATA3	chr10:25673250-25674345	MCF-7	breast:	n/a	n/a
48	GATA3	chr10:25673402-25674100	MCF-7	breast:	n/a	n/a
49	GATA3	chr10:25670084-25670516	T-47D	breast:	n/a	n/a
50	GATA3	chr10:25672693-25673159	T-47D	breast:	n/a	n/a

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

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: 674 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540102715	chr10:25645001-25645002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs564049379	chr10:25645021-25645022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368168396	chr10:25645046-25645047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs375371008	chr10:25645059-25645060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs577718719	chr10:25645060-25645061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs533764902	chr10:25645066-25645067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs552309562	chr10:25645077-25645078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs543650561	chr10:25645084-25645085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185192101	chr10:25645097-25645098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs555819692	chr10:25645119-25645120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs370717530	chr10:25645126-25645127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs562834706	chr10:25645163-25645164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12770371	chr10:25645176-25645177	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79871671	chr10:25645189-25645190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs141240692	chr10:25645201-25645202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs145144409	chr10:25645206-25645207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs548060723	chr10:25645221-25645222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs571167263	chr10:25645291-25645292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs372857435	chr10:25645321-25645322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs71495432	chr10:25645322-25645323	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs200143277	chr10:25645325-25645326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs190837696	chr10:25645327-25645328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112535440	chr10:25645344-25645345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs112303504	chr10:25645368-25645369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs71495433	chr10:25645372-25645373	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571667303	chr10:25645411-25645412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs534322005	chr10:25645460-25645461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs141511642	chr10:25645462-25645463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs150891081	chr10:25645494-25645495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs73608282	chr10:25645495-25645496	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs386742011	chr10:25645507-25645508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs116144779	chr10:25645508-25645509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs368776768	chr10:25645509-25645510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs34829624	chr10:25645511-25645512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs78758276	chr10:25645512-25645513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs562164803	chr10:25645533-25645534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs34573334	chr10:25645545-25645546	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35898125	chr10:25645551-25645552	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs138446021	chr10:25645572-25645573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539313236	chr10:25645575-25645576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs550228866	chr10:25645586-25645587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs570197253	chr10:25645626-25645627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs552857210	chr10:25645628-25645629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs149258491	chr10:25645635-25645636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs548622283	chr10:25645669-25645670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs374866527	chr10:25645748-25645749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs559433512	chr10:25645765-25645766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs71495434	chr10:25645776-25645777	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs147383717	chr10:25645780-25645781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571431772	chr10:25645803-25645804	ZNF genes & repeats	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25644800-25647200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
2	chr10:25670000-25673200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr10:25670200-25673400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:25670600-25670800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr10:25670800-25671000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:25670800-25671200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr10:25670800-25671200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:25670800-25671200	Enhancers	Brain Cingulate Gyrus	brain
9	chr10:25670800-25671400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:25670800-25671600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:25670800-25672600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr10:25671000-25671200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr10:25671000-25671200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr10:25671000-25671200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr10:25671000-25671200	Enhancers	Brain Anterior Caudate	brain
16	chr10:25671000-25671200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr10:25671000-25671400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr10:25671000-25677000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:25671200-25671600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr10:25671200-25672200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr10:25671200-25672200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr10:25671200-25672200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr10:25671400-25671800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr10:25671400-25672400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:25671400-25672400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr10:25671600-25671800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:25671800-25673000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr10:25672000-25673000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:25672200-25672800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr10:25672200-25673000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr10:25672400-25672600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr10:25672400-25672600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:25672400-25672800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr10:25672600-25672800	Enhancers	Brain Anterior Caudate	brain
35	chr10:25673000-25677200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:25673000-25679200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr10:25677000-25677800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:25677200-25677400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:25677200-25678000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:25677200-25678200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr10:25677200-25680000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
42	chr10:25679800-25681400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:25680000-25680600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr10:25680600-25686000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr10:25681000-25681200	Weak transcription	Right Atrium	heart
46	chr10:25681200-25681400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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