Variant report

Variant	nsv894920
Chromosome Location	chr10:19520750-19592466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:171)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:171 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr10:19591069-19591317	K562	blood:	n/a	n/a
2	BACH1	chr10:19590996-19591316	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr10:19523717-19523813	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr10:19589028-19589280	HepG2	liver:	n/a	n/a
5	CEBPB	chr10:19589005-19589242	IMR90	lung:	n/a	n/a
6	CTCF	chr10:19551437-19551481	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr10:19535276-19535394	MCF-7	breast:	n/a	n/a
8	CTCF	chr10:19567739-19567782	GM10266	blood:	n/a	n/a
9	CTCF	chr10:19528047-19528096	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr10:19528045-19528118	GM10266	blood:	n/a	n/a
11	CTCF	chr10:19533396-19533425	GM19239	blood:	n/a	n/a
12	CTCF	chr10:19565919-19565946	ProgFib	skin:	n/a	n/a
13	E2F4	chr10:19578140-19578278	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr10:19529145-19529345	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr10:19591025-19591363	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr10:19521300-19521804	MCF-7	breast:	n/a	n/a
17	EP300	chr10:19521295-19521907	MCF-7	breast:	n/a	n/a
18	EP300	chr10:19534041-19536381	SK-N-SH	brain:	n/a	chr10:19534409-19534418 chr10:19536154-19536168
19	EP300	chr10:19534868-19535735	MCF-7	breast:	n/a	n/a
20	EP300	chr10:19534881-19535795	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr10:19535105-19535710	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr10:19534851-19535731	MCF-7	breast:	n/a	n/a
23	ESR1	chr10:19521310-19521691	T-47D	breast:	n/a	chr10:19521472-19521489 chr10:19521471-19521488
24	ESR1	chr10:19521321-19521735	T-47D	breast:	n/a	chr10:19521472-19521489 chr10:19521471-19521488
25	ESR1	chr10:19521312-19521598	T-47D	breast:	n/a	chr10:19521472-19521489 chr10:19521471-19521488
26	FOS	chr10:19580724-19581056	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr10:19580756-19581055	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr10:19590337-19591600	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr10:19590915-19591538	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr10:19583228-19583498	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr10:19580894-19580902	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr10:19583245-19583438	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr10:19590565-19591652	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr10:19590929-19591474	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr10:19583156-19583517	MCF10A-Er-Src	breast:	n/a	n/a
36	FOSL2	chr10:19590999-19591459	MCF-7	breast:	n/a	n/a
37	FOSL2	chr10:19590936-19591471	MCF-7	breast:	n/a	n/a
38	FOSL2	chr10:19591029-19591403	SK-N-SH	brain:	n/a	n/a
39	FOXA1	chr10:19536787-19537207	HepG2	liver:	n/a	chr10:19537067-19537082
40	FOXA1	chr10:19536841-19537250	HepG2	liver:	n/a	chr10:19537067-19537082
41	FOXA2	chr10:19536911-19537195	HepG2	liver:	n/a	n/a
42	FOXM1	chr10:19521280-19521807	MCF-7	breast:	n/a	n/a
43	FOXM1	chr10:19534735-19535461	MCF-7	breast:	n/a	n/a
44	FOXM1	chr10:19521119-19521850	MCF-7	breast:	n/a	n/a
45	GATA2	chr10:19521386-19521683	SH-SY5Y	brain:	n/a	n/a
46	GATA2	chr10:19534449-19536101	SH-SY5Y	brain:	n/a	chr10:19534828-19534849 chr10:19534835-19534844
47	GATA3	chr10:19534674-19535767	MCF-7	breast:	n/a	chr10:19534828-19534849 chr10:19534835-19534844
48	GATA3	chr10:19521251-19521945	MCF-7	breast:	n/a	chr10:19521847-19521856
49	GATA3	chr10:19532968-19533322	SH-SY5Y	brain:	n/a	chr10:19533000-19533007 chr10:19533153-19533174 chr10:19533000-19533007 chr10:19533159-19533169 chr10:19533000-19533007 chr10:19532993-19533014 chr10:19532996-19533012 chr10:19533160-19533167 chr10:19533160-19533169 chr10:19533160-19533167 chr10:19533160-19533167
50	GATA3	chr10:19534484-19535887	SK-N-SH	brain:	n/a	chr10:19534828-19534849 chr10:19534835-19534844

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:19540759-19540809	GM12878	blood:	n/a
2	chr10:19540759-19540809	PrEC	prostate:	n/a
3	chr10:19540759-19540809	ProgFib	skin:	n/a
4	chr10:19540759-19540809	HCF	heart:	n/a
5	chr10:19540759-19540809	HCT-116	colon:	n/a
6	chr10:19540759-19540809	HIPEpiC	eye:	n/a
7	chr10:19540759-19540809	AG10803	skin:	n/a
8	chr10:19540759-19540809	MCF-7	breast:	n/a
9	chr10:19540759-19540809	T-47D	breast:	n/a
10	chr10:19540759-19540809	NHBE	bronchial:	n/a
11	chr10:19540759-19540809	HRPEpiC	eye:	n/a
12	chr10:19540759-19540809	PFSK-1	brain:	n/a
13	chr10:19540759-19540809	K562	blood:	n/a
14	chr10:19540759-19540809	HCPEpiC	choroid plexus:	n/a
15	chr10:19540759-19540809	GM12892	blood:	n/a
16	chr10:19540759-19540809	AG04450	lung:	fetal
17	chr10:19540759-19540809	NT2-D1	testis:	n/a
18	chr10:19540759-19540809	BJ	skin:	n/a
19	chr10:19540759-19540809	HRE	kidney:	n/a
20	chr10:19540759-19540809	GM06990	blood:	n/a
21	chr10:19540759-19540809	HCM	heart:	n/a
22	chr10:19540759-19540809	SK-N-SH_RA	brain:	n/a
23	chr10:19540759-19540809	BE2_C	brain:	n/a
24	chr10:19540759-19540809	U87	brain:	n/a
25	chr10:19540759-19540809	NB4	blood:	n/a
26	chr10:19540759-19540809	SK-N-SH	brain:	n/a
27	chr10:19540759-19540809	HPAEpiC	pulmonary alveolar:	n/a
28	chr10:19540759-19540809	Caco-2	colon:	n/a
29	chr10:19540759-19540809	HepG2	liver:	n/a
30	chr10:19540759-19540809	PANC-1	pancreas:	n/a
31	chr10:19540759-19540809	HL-60	blood:	n/a
32	chr10:19540759-19540809	AG04449	skin:	fetal
33	chr10:19540759-19540809	IMR90	lung:	fetal
34	chr10:19540759-19540809	CMK	blood:	n/a
35	chr10:19540759-19540809	GM12891	blood:	n/a
36	chr10:19540759-19540809	NH-A	brain:	n/a
37	chr10:19540759-19540809	SK-N-MC	brain:	n/a
38	chr10:19540759-19540809	HMEC	breast:	n/a
39	chr10:19540759-19540809	Jurkat	blood:	n/a
40	chr10:19540759-19540809	HEEpiC	esophagus:	n/a
41	chr10:19540759-19540809	HRCEpiC	kidney:	n/a
42	chr10:19540759-19540809	AoSMC	blood vessel:	n/a
43	chr10:19540759-19540809	HNPCEpiC	eye:	n/a
44	chr10:19540759-19540809	MCF10A-Er-Src	breast:	n/a
45	chr10:19540759-19540809	A549	lung:	n/a
46	chr10:19540759-19540809	ovcar-3	ovarian:	n/a
47	chr10:19540759-19540809	RPTEC	kidney:	n/a
48	chr10:19540759-19540809	Hepatocyte	liver:	n/a
49	chr10:19540759-19540809	Hela-S3	cervix:	n/a
50	chr10:19540759-19540809	SAEC	small airway:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:19534164..19535892-chr10:19543312..19545061,2	MCF-7	breast:
2	chr10:19466484..19467327-chr10:19521039..19521911,3	MCF-7	breast:
3	chr10:19551633..19554617-chr10:19556322..19558693,2	K562	blood:
4	chr10:19547526..19550166-chr10:19551019..19552884,2	MCF-7	breast:
5	chr10:19534164..19535892-chr10:19543312..19545061,2	MCF-7	breast:
6	chr10:19544299..19547180-chr10:19549327..19551757,2	MCF-7	breast:
7	chr10:19547526..19550166-chr10:19551019..19552884,2	MCF-7	breast:
8	chr10:19544299..19547180-chr10:19549327..19551757,2	MCF-7	breast:
9	chr10:19551633..19554617-chr10:19556322..19558693,2	K562	blood:
10	chr10:19590664..19593584-chr10:19602792..19604860,2	K562	blood:
11	chr10:19578194..19580695-chr10:19582089..19585004,2	K562	blood:
12	chr10:19466484..19467332-chr10:19521028..19521911,4	MCF-7	breast:
13	chr10:19510172..19510750-chr10:19521065..19522003,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NSUN6-6	chr10:19579152-19579395	XLOC_008744
2	lnc-NSUN6-6	chr10:19580351-19580409	XLOC_008744

No data

Variant related genes	Relation type
ENSG00000227734	TF binding region
ENSG00000227734	CpG island
ENSG00000227734	chromatin interactions

Extended variants
information (count: 3438 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:3438 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7088424	chr10:19520750-19520751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs55851502	chr10:19520758-19520759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376226553	chr10:19520771-19520772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568424128	chr10:19520779-19520780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535619726	chr10:19520780-19520781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184367301	chr10:19520802-19520803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374396273	chr10:19520811-19520812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188772155	chr10:19520819-19520820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557727320	chr10:19520839-19520840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181148475	chr10:19520862-19520863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184493745	chr10:19520913-19520914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543406581	chr10:19520914-19520915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7072192	chr10:19520929-19520930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561920660	chr10:19520937-19520938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138110292	chr10:19520960-19520961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541198681	chr10:19520970-19520971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80224522	chr10:19520987-19520988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7087788	chr10:19521008-19521009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552430574	chr10:19521050-19521051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73593853	chr10:19521067-19521068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368023574	chr10:19521106-19521107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531567280	chr10:19521107-19521108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568839483	chr10:19521115-19521116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544787706	chr10:19521120-19521121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531748624	chr10:19521128-19521129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549780078	chr10:19521135-19521136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11009036	chr10:19521214-19521215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36115450	chr10:19521220-19521221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189371327	chr10:19521222-19521223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550317889	chr10:19521244-19521245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535776827	chr10:19521251-19521252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34888584	chr10:19521271-19521272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11009037	chr10:19521277-19521278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs397847658	chr10:19521286-19521287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144236094	chr10:19521349-19521350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182327535	chr10:19521353-19521354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557519493	chr10:19521397-19521398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74737332	chr10:19521414-19521415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187347696	chr10:19521444-19521445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555420827	chr10:19521445-19521446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573960993	chr10:19521507-19521508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190707590	chr10:19521528-19521529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553193825	chr10:19521530-19521531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181605634	chr10:19521537-19521538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185725555	chr10:19521589-19521590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77798414	chr10:19521627-19521628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1591326	chr10:19521630-19521631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190235541	chr10:19521638-19521639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561783943	chr10:19521641-19521642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183175936	chr10:19521680-19521681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19504000-19546600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:19506800-19523600	Weak transcription	Fetal Intestine Small	intestine
3	chr10:19520400-19523600	Weak transcription	Fetal Intestine Large	intestine
4	chr10:19523600-19524000	ZNF genes & repeats	Fetal Intestine Large	intestine
5	chr10:19523600-19524200	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr10:19524200-19528000	Weak transcription	Fetal Intestine Small	intestine
7	chr10:19528000-19528400	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr10:19535200-19535400	Enhancers	Fetal Lung	lung
9	chr10:19535400-19535600	Enhancers	Fetal Intestine Large	intestine
10	chr10:19535400-19538200	Weak transcription	Fetal Lung	lung
11	chr10:19535600-19542400	Weak transcription	Fetal Intestine Large	intestine
12	chr10:19538000-19572800	Weak transcription	Fetal Intestine Small	intestine
13	chr10:19538200-19538800	Enhancers	Fetal Lung	lung
14	chr10:19538800-19539200	Weak transcription	Fetal Lung	lung
15	chr10:19539200-19542200	Enhancers	Fetal Lung	lung
16	chr10:19539600-19540000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:19540000-19540800	Enhancers	NHLF	lung
18	chr10:19540200-19541200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:19541000-19541400	Enhancers	Fetal Kidney	kidney
20	chr10:19542400-19543000	Strong transcription	Fetal Intestine Large	intestine
21	chr10:19543000-19547200	Weak transcription	Fetal Intestine Large	intestine
22	chr10:19545400-19546400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr10:19546600-19548000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr10:19547000-19549800	Weak transcription	HepG2	liver
25	chr10:19547200-19548600	Strong transcription	Fetal Intestine Large	intestine
26	chr10:19548000-19558200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:19548600-19587000	Weak transcription	Fetal Intestine Large	intestine
28	chr10:19558200-19560200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr10:19559600-19560000	Enhancers	Fetal Brain Male	brain
30	chr10:19560200-19561400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:19561400-19561800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
32	chr10:19561800-19572200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr10:19572200-19573000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr10:19572800-19573200	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr10:19573000-19606000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr10:19573200-19580200	Weak transcription	Fetal Intestine Small	intestine
37	chr10:19579200-19579600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr10:19579600-19580000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr10:19580000-19580800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr10:19580200-19580600	Enhancers	Fetal Intestine Small	intestine
41	chr10:19580200-19580600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr10:19580600-19587000	Weak transcription	Fetal Intestine Small	intestine
43	chr10:19582600-19582800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr10:19587000-19587400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr10:19587000-19587600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr10:19587000-19587600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr10:19587000-19587600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr10:19587000-19587800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr10:19587000-19587800	Strong transcription	Fetal Intestine Small	intestine
50	chr10:19587000-19589000	Strong transcription	Fetal Intestine Large	intestine

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