Variant report

Variant	esv3385048
Chromosome Location	chr10:50610942-50988537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4879)
CpG islands
(count:7457)
Chromatin interactive
region (count:218)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4879 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:50643335-50643526	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:50750441-50750815	K562	blood:	n/a	n/a
3	ARID3A	chr10:50746424-50747227	K562	blood:	n/a	n/a
4	ARID3A	chr10:50707271-50707668	K562	blood:	n/a	n/a
5	ARID3A	chr10:50758724-50758783	K562	blood:	n/a	n/a
6	ARID3A	chr10:50802598-50802899	K562	blood:	n/a	n/a
7	ARID3A	chr10:50735313-50735353	K562	blood:	n/a	n/a
8	ATF1	chr10:50750403-50750790	K562	blood:	n/a	n/a
9	ATF1	chr10:50722611-50722644	K562	blood:	n/a	n/a
10	ATF1	chr10:50655062-50655184	K562	blood:	n/a	n/a
11	ATF1	chr10:50707420-50707711	K562	blood:	n/a	n/a
12	ATF2	chr10:50776395-50776704	GM12878	blood:	n/a	n/a
13	ATF2	chr10:50627041-50627474	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr10:50615570-50615967	GM12878	blood:	n/a	n/a
15	ATF2	chr10:50742842-50743590	GM12878	blood:	n/a	n/a
16	ATF2	chr10:50747109-50747519	GM12878	blood:	n/a	n/a
17	ATF2	chr10:50742940-50743545	GM12878	blood:	n/a	n/a
18	ATF2	chr10:50746854-50747629	GM12878	blood:	n/a	n/a
19	ATF2	chr10:50776254-50776670	GM12878	blood:	n/a	n/a
20	ATF3	chr10:50747037-50747338	GM12878	blood:	n/a	n/a
21	ATF3	chr10:50970265-50970481	H1-hESC	embryonic stem cell:	n/a	chr10:50970383-50970392 chr10:50970405-50970414 chr10:50970359-50970368 chr10:50970388-50970402 chr10:50970452-50970461 chr10:50970407-50970416
22	ATF3	chr10:50970240-50970504	HepG2	liver:	n/a	chr10:50970383-50970392 chr10:50970405-50970414 chr10:50970359-50970368 chr10:50970388-50970402 chr10:50970452-50970461 chr10:50970407-50970416
23	ATF3	chr10:50887389-50887778	H1-hESC	embryonic stem cell:	n/a	chr10:50887595-50887615 chr10:50887595-50887604
24	ATF3	chr10:50970194-50970515	K562	blood:	n/a	chr10:50970383-50970392 chr10:50970405-50970414 chr10:50970359-50970368 chr10:50970388-50970402 chr10:50970452-50970461 chr10:50970407-50970416
25	ATF3	chr10:50616559-50616803	K562	blood:	n/a	n/a
26	ATF3	chr10:50747022-50747335	K562	blood:	n/a	n/a
27	ATF3	chr10:50970300-50970494	GM12878	blood:	n/a	chr10:50970383-50970392 chr10:50970405-50970414 chr10:50970359-50970368 chr10:50970388-50970402 chr10:50970452-50970461 chr10:50970407-50970416
28	ATF3	chr10:50887396-50887744	H1-hESC	embryonic stem cell:	n/a	chr10:50887595-50887615 chr10:50887595-50887604
29	ATF3	chr10:50887442-50887695	K562	blood:	n/a	chr10:50887595-50887615 chr10:50887595-50887604
30	ATF3	chr10:50654112-50654389	K562	blood:	n/a	n/a
31	ATF3	chr10:50970168-50970483	GM12878	blood:	n/a	chr10:50970383-50970392 chr10:50970405-50970414 chr10:50970359-50970368 chr10:50970388-50970402 chr10:50970452-50970461 chr10:50970407-50970416
32	BACH1	chr10:50821165-50821429	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr10:50891044-50891267	K562	blood:	n/a	n/a
34	BACH1	chr10:50815079-50815303	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr10:50898059-50898816	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr10:50887334-50887920	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr10:50747683-50747755	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr10:50819285-50819539	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr10:50818288-50818355	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr10:50627142-50627453	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr10:50969856-50970751	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr10:50943326-50943356	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr10:50818924-50819042	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr10:50747028-50747429	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr10:50827761-50827855	H1-hESC	embryonic stem cell:	n/a	n/a
46	BATF	chr10:50747167-50747584	GM12878	blood:	n/a	n/a
47	BATF	chr10:50743044-50743387	GM12878	blood:	n/a	chr10:50743210-50743220 chr10:50743209-50743220
48	BATF	chr10:50743019-50743490	GM12878	blood:	n/a	chr10:50743210-50743220 chr10:50743209-50743220
49	BATF	chr10:50746432-50746790	GM12878	blood:	n/a	n/a
50	BATF	chr10:50785273-50785556	GM12878	blood:	n/a	chr10:50785393-50785402

(count:7457 , 50 per page) page: 1 2 3 4 5 6 7 ... 150

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:50976348-50976398	BJ	skin:	n/a
2	chr10:50887632-50887682	A549	lung:	n/a
3	chr10:50824106-50824156	LNCaP	prostate:	n/a
4	chr10:50817104-50817154	HCT-116	colon:	n/a
5	chr10:50822391-50822441	U87	brain:	n/a
6	chr10:50818652-50818702	A549	lung:	n/a
7	chr10:50971607-50971657	H1-hESC	embryonic stem cell:	embryo
8	chr10:50977130-50977180	SK-N-SH	brain:	n/a
9	chr10:50887212-50887262	SKMC	muscle:	n/a
10	chr10:50817096-50817146	PFSK-1	brain:	n/a
11	chr10:50975940-50975990	K562	blood:	n/a
12	chr10:50970591-50970641	HCM	heart:	n/a
13	chr10:50820604-50820654	GM06990	blood:	n/a
14	chr10:50887861-50887911	Hepatocyte	liver:	n/a
15	chr10:50616478-50616528	Jurkat	blood:	n/a
16	chr10:50976348-50976398	BJ	skin:	n/a
17	chr10:50887632-50887682	A549	lung:	n/a
18	chr10:50824106-50824156	LNCaP	prostate:	n/a
19	chr10:50817104-50817154	HCT-116	colon:	n/a
20	chr10:50822391-50822441	U87	brain:	n/a
21	chr10:50818652-50818702	A549	lung:	n/a
22	chr10:50971607-50971657	H1-hESC	embryonic stem cell:	embryo
23	chr10:50977130-50977180	SK-N-SH	brain:	n/a
24	chr10:50887212-50887262	SKMC	muscle:	n/a
25	chr10:50817096-50817146	PFSK-1	brain:	n/a
26	chr10:50975940-50975990	K562	blood:	n/a
27	chr10:50970591-50970641	HCM	heart:	n/a
28	chr10:50820604-50820654	GM06990	blood:	n/a
29	chr10:50887861-50887911	Hepatocyte	liver:	n/a
30	chr10:50616478-50616528	Jurkat	blood:	n/a
31	chr10:50746589-50746639	ovcar-3	ovarian:	n/a
32	chr10:50747314-50747364	GM06990	blood:	n/a
33	chr10:50820803-50820853	Jurkat	blood:	n/a
34	chr10:50970249-50970299	IMR90	lung:	fetal
35	chr10:50822175-50822225	HRPEpiC	eye:	n/a
36	chr10:50818707-50818757	MCF-7	breast:	n/a
37	chr10:50822175-50822225	GM12891	blood:	n/a
38	chr10:50821078-50821128	SK-N-SH	brain:	n/a
39	chr10:50747314-50747364	HL-60	blood:	n/a
40	chr10:50863204-50863254	CMK	blood:	n/a
41	chr10:50863204-50863254	H1-hESC	embryonic stem cell:	embryo
42	chr10:50747652-50747702	AG10803	skin:	n/a
43	chr10:50816262-50816312	Jurkat	blood:	n/a
44	chr10:50970539-50970589	PrEC	prostate:	n/a
45	chr10:50970258-50970308	NHDF-neo	bronchial:	n/a
46	chr10:50821652-50821702	HEEpiC	esophagus:	n/a
47	chr10:50887212-50887262	HEEpiC	esophagus:	n/a
48	chr10:50626838-50626888	HEEpiC	esophagus:	n/a
49	chr10:50976646-50976696	HL-60	blood:	n/a
50	chr10:50821597-50821647	A549	lung:	n/a

(count:218 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr10:50960158..50963082-chr10:50966138..50968051,2	K562	blood:
2	chr10:50656731..50658500-chr10:50666252..50669153,2	MCF-7	breast:
3	chr10:50814065..50816075-chr10:50831042..50833228,2	K562	blood:
4	chr10:50733015..50734544-chr10:50744395..50746528,2	MCF-7	breast:
5	chr10:50745672..50748723-chr10:50753394..50755997,3	MCF-7	breast:
6	chr10:50729482..50733326-chr10:50734602..50739448,5	K562	blood:
7	chr10:50746990..50749930-chr10:50758500..50760326,2	MCF-7	breast:
8	chr1:19536985..19537839-chr10:50747132..50747819,2	Hela-S3	cervix:
9	chr10:50868130..50870327-chr10:50874133..50876599,2	K562	blood:
10	chr10:50817275..50819669-chr10:50821869..50826020,4	K562	blood:
11	chr10:50635267..50636982-chr10:50640291..50641806,2	K562	blood:
12	chr10:50963177..50965287-chr10:50968017..50970003,2	K562	blood:
13	chr10:50802656..50803582-chr10:50810996..50811794,2	K562	blood:
14	chr10:50746990..50749930-chr10:50758500..50760326,2	MCF-7	breast:
15	chr10:50617316..50619314-chr10:50731416..50733517,2	K562	blood:
16	chr10:50731383..50733326-chr10:50736507..50739448,3	K562	blood:
17	chr10:50745695..50748127-chr17:56707618..56709652,2	MCF-7	breast:
18	chr10:50829978..50831621-chr10:50840399..50842582,2	MCF-7	breast:
19	chr10:50970021..50971776-chr10:50987661..50990067,2	MCF-7	breast:
20	chr10:50801245..50801840-chr10:50953036..50953570,2	MCF-7	breast:
21	chr10:50765967..50768022-chr10:50768615..50770437,2	MCF-7	breast:
22	chr10:50954773..50957241-chr10:50965884..50969750,3	K562	blood:
23	chr10:50185149..50185671-chr10:50720018..50720966,2	MCF-7	breast:
24	chr10:50825488..50827089-chr10:50860500..50862659,2	MCF-7	breast:
25	chr10:50617610..50618526-chr10:50720225..50721007,3	MCF-7	breast:
26	chr10:50614821..50616660-chr10:50726765..50728206,11	K562	blood:
27	chr10:50801155..50801773-chr10:50810806..50811622,2	MCF-7	breast:
28	chr10:50770715..50773687-chr10:50775612..50777273,2	K562	blood:
29	chr10:50829861..50831911-chr10:50834667..50836429,2	MCF-7	breast:
30	chr10:50957936..50960804-chr10:50966325..50969524,4	K562	blood:
31	chr10:50719950..50720567-chr10:50801233..50801768,2	K562	blood:
32	chr10:50865610..50868131-chr10:50870738..50873167,2	K562	blood:
33	chr10:50815088..50816772-chr10:50825663..50828109,2	K562	blood:
34	chr10:50738435..50741425-chr10:50746279..50748741,3	MCF-7	breast:
35	chr10:50799877..50800776-chr10:50814007..50814522,2	K562	blood:
36	chr10:50724821..50729589-chr10:50731335..50734731,5	K562	blood:
37	chr10:50615493..50616931-chr10:50720236..50720959,5	MCF-7	breast:
38	chr10:50189578..50192203-chr10:50707466..50710047,2	K562	blood:
39	chr10:50601157..50603668-chr10:50610918..50613730,3	K562	blood:
40	chr10:50801243..50801878-chr10:50826995..50827951,3	K562	blood:
41	chr10:50625768..50626670-chr10:50720019..50720792,2	MCF-7	breast:
42	chr10:50756033..50757654-chr10:50761828..50764703,2	K562	blood:
43	chr10:50865610..50868131-chr10:50870738..50873167,2	K562	blood:
44	chr10:50694526..50696414-chr10:50698639..50700547,2	MCF-7	breast:
45	chr10:50724821..50729589-chr10:50731335..50734731,5	K562	blood:
46	chr10:50715569..50718101-chr10:50726217..50728314,2	K562	blood:
47	chr10:50802714..50803240-chr10:52035391..52036038,2	K562	blood:
48	chr10:50694526..50696414-chr10:50698639..50700547,2	MCF-7	breast:
49	chr10:50615564..50616150-chr10:50626091..50626641,2	MCF-7	breast:
50	chr10:50726159..50727907-chr10:50745055..50747037,2	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf71-3	chr10:50639184-50639919	NONHSAT013305
2	lnc-CHAT-1	chr10:50759880-50760060	NONHSAT013313
3	lnc-SLC18A3-1	chr10:50827771-50827841	NONHSAT013316
4	lnc-C10orf71-1	chr10:50627323-50627556	ENSG00000235939.1
5	lnc-SLC18A3-1	chr10:50821165-50821248	NONHSAT013316
6	lnc-SLC18A3-1	chr10:50824548-50824648	NONHSAT013316
7	lnc-ERCC6-1	chr10:50641879-50655452	NONHSAT013306
8	lnc-DRGX-3	chr10:50726991-50729600	NONHSAT013309
9	lnc-C10orf71-1	chr10:50680749-50680949	ENSG00000235939.1
10	lnc-CHAT-1	chr10:50760497-50760698	NONHSAT013313
11	lnc-CHAT-1	chr10:50759354-50759577	NONHSAT013313

No data

Variant related genes	Relation type
ERCC6	TF binding region
CHAT	TF binding region
SLC18A3	TF binding region
PGBD3	TF binding region
ENSG00000235939	TF binding region
OGDHL	TF binding region
ENSG00000271237	TF binding region
ERCC6-PGBD3	TF binding region
C10orf53	TF binding region
ENSG00000226389	TF binding region
ERCC6	CpG island
CHAT	CpG island
SLC18A3	CpG island
PGBD3	CpG island
ENSG00000235939	CpG island
OGDHL	CpG island
ENSG00000271237	CpG island
ERCC6-PGBD3	CpG island
C10orf53	CpG island
ENSG00000226389	CpG island
ENSG00000271237	chromatin interactions
ENSG00000230424	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000187714	chromatin interactions
ENSG00000264800	chromatin interactions
ENSG00000197444	chromatin interactions
ENSG00000185480	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000258838	chromatin interactions
ENSG00000235939	chromatin interactions
ENSG00000226576	chromatin interactions
ENSG00000165606	chromatin interactions
ENSG00000108773	chromatin interactions
ENSG00000243251	chromatin interactions
ENSG00000241685	chromatin interactions
ENSG00000162783	chromatin interactions
ENSG00000225830	chromatin interactions
ENSG00000070748	chromatin interactions
ENSG00000075188	chromatin interactions
ENSG00000146834	chromatin interactions

Extended variants
information (count: 13915 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:13915 , 50 per page) page: 1 2 3 4 5 6 7 ... 279

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58638646	chr10:50610985-50610986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs397977759	chr10:50610995-50610996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369756122	chr10:50610996-50610997	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540717097	chr10:50611022-50611023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565261609	chr10:50611097-50611098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532519366	chr10:50611106-50611107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35916817	chr10:50611135-50611136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544581205	chr10:50611138-50611139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376743514	chr10:50611168-50611169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190351729	chr10:50611177-50611178	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529979794	chr10:50611184-50611185	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141971357	chr10:50611188-50611189	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368406529	chr10:50611189-50611190	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566672248	chr10:50611218-50611219	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527524480	chr10:50611222-50611223	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552235611	chr10:50611283-50611284	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150662074	chr10:50611295-50611296	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181684740	chr10:50611303-50611304	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374926580	chr10:50611326-50611327	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186344590	chr10:50611330-50611331	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536537890	chr10:50611346-50611347	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554889065	chr10:50611347-50611348	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573362900	chr10:50611349-50611350	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540502761	chr10:50611388-50611389	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368936824	chr10:50611393-50611394	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs553083562	chr10:50611403-50611404	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73311940	chr10:50611409-50611410	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544730534	chr10:50611443-50611444	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142761257	chr10:50611444-50611445	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530166052	chr10:50611455-50611456	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542125892	chr10:50611470-50611471	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560223524	chr10:50611473-50611474	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527601170	chr10:50611484-50611485	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs73312002	chr10:50611490-50611491	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375046101	chr10:50611499-50611500	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191542469	chr10:50611500-50611501	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549505846	chr10:50611523-50611524	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374087111	chr10:50611556-50611557	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs552960996	chr10:50611573-50611574	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567714495	chr10:50611588-50611589	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535108306	chr10:50611631-50611632	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368518226	chr10:50611666-50611667	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113373461	chr10:50611686-50611687	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183059889	chr10:50611690-50611691	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11592837	chr10:50611714-50611715	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs28630783	chr10:50611726-50611727	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145481524	chr10:50611735-50611736	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534526842	chr10:50611746-50611747	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372749026	chr10:50611748-50611749	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558835182	chr10:50611772-50611773	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
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
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Hypotonia	21948486	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
XY gonadal dysgenesis	20685758	CNVD
Cancer	17440070	CNVD

Chromatin state (count:5390 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50611200-50611400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
2	chr10:50611400-50611600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
3	chr10:50611400-50614200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:50612000-50613400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:50612400-50612600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:50612600-50627200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:50612800-50613000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:50613000-50613200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr10:50613000-50613400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr10:50613000-50613400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr10:50613000-50613400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr10:50613000-50613800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr10:50613200-50613400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr10:50613400-50613600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:50613400-50613600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr10:50613400-50613600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr10:50613400-50615400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr10:50613400-50615600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:50615400-50615600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr10:50615400-50617000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr10:50615600-50615800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr10:50615600-50616000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:50615600-50616000	Enhancers	Left Ventricle	heart
24	chr10:50615600-50616800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:50615600-50617200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:50615800-50616000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr10:50615800-50616000	Bivalent Enhancer	Placenta	Placenta
28	chr10:50615800-50616000	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr10:50615800-50616200	Enhancers	Brain Germinal Matrix	brain
30	chr10:50615800-50616200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr10:50615800-50617000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr10:50615800-50621400	Enhancers	Pancreas	Pancrea
33	chr10:50616000-50616200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:50616000-50616400	Weak transcription	Left Ventricle	heart
35	chr10:50616200-50616400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
36	chr10:50616200-50616800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr10:50616200-50617200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr10:50616200-50617800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr10:50616200-50618000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr10:50616200-50618200	Weak transcription	Brain Germinal Matrix	brain
41	chr10:50616400-50616600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
42	chr10:50616400-50617000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr10:50616400-50619200	Enhancers	Left Ventricle	heart
44	chr10:50616600-50616800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr10:50616600-50617000	Enhancers	Right Ventricle	heart
46	chr10:50616800-50625000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr10:50617000-50617200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr10:50617000-50617200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr10:50617000-50617400	Weak transcription	Right Ventricle	heart
50	chr10:50617000-50617800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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