Variant report

Variant	nsv895376
Chromosome Location	chr10:50480164-50557211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:794)
CpG islands
(count:1407)
Chromatin interactive
region (count:76)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:50507990-50508960	K562	blood:	n/a	n/a
2	ARID3A	chr10:50507010-50507590	K562	blood:	n/a	n/a
3	ARID3A	chr10:50497610-50497643	K562	blood:	n/a	n/a
4	ARID3A	chr10:50486620-50486648	K562	blood:	n/a	n/a
5	ATF1	chr10:50486488-50486789	K562	blood:	n/a	n/a
6	ATF1	chr10:50508145-50508913	K562	blood:	n/a	n/a
7	ATF1	chr10:50491205-50491457	K562	blood:	n/a	n/a
8	BACH1	chr10:50520022-50520222	K562	blood:	n/a	n/a
9	BACH1	chr10:50508137-50509075	K562	blood:	n/a	n/a
10	BHLHE40	chr10:50482131-50482434	K562	blood:	n/a	n/a
11	BHLHE40	chr10:50511026-50511034	K562	blood:	n/a	n/a
12	BHLHE40	chr10:50493480-50493517	K562	blood:	n/a	n/a
13	BHLHE40	chr10:50505806-50506808	K562	blood:	n/a	n/a
14	BHLHE40	chr10:50491141-50491381	K562	blood:	n/a	n/a
15	BHLHE40	chr10:50485956-50486756	K562	blood:	n/a	n/a
16	BHLHE40	chr10:50507016-50509408	K562	blood:	n/a	n/a
17	BHLHE40	chr10:50518011-50518209	GM12878	blood:	n/a	n/a
18	BHLHE40	chr10:50507883-50508449	GM12878	blood:	n/a	n/a
19	BHLHE40	chr10:50489615-50489680	K562	blood:	n/a	n/a
20	CBX3	chr10:50486392-50486774	K562	blood:	n/a	n/a
21	CBX3	chr10:50506670-50509246	K562	blood:	n/a	n/a
22	CBX3	chr10:50508489-50508962	K562	blood:	n/a	n/a
23	CCNT2	chr10:50507373-50509112	K562	blood:	n/a	n/a
24	CEBPB	chr10:50545696-50545972	HepG2	liver:	n/a	chr10:50545793-50545804
25	CEBPB	chr10:50500293-50500314	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr10:50537695-50537868	A549	lung:	n/a	n/a
27	CEBPB	chr10:50527352-50527497	K562	blood:	n/a	n/a
28	CEBPB	chr10:50500194-50500402	IMR90	lung:	n/a	n/a
29	CEBPB	chr10:50537728-50537937	HepG2	liver:	n/a	n/a
30	CEBPB	chr10:50488259-50488449	HepG2	liver:	n/a	chr10:50488400-50488411
31	CEBPB	chr10:50482786-50483090	K562	blood:	n/a	chr10:50482942-50482955 chr10:50482943-50482954 chr10:50482942-50482953
32	CEBPB	chr10:50493344-50493564	A549	lung:	n/a	n/a
33	CEBPB	chr10:50482901-50483022	HepG2	liver:	n/a	chr10:50482942-50482955 chr10:50482943-50482954 chr10:50482942-50482953
34	CEBPB	chr10:50488289-50488521	IMR90	lung:	n/a	chr10:50488400-50488411
35	CEBPB	chr10:50491121-50491379	K562	blood:	n/a	n/a
36	CEBPB	chr10:50508200-50508972	K562	blood:	n/a	n/a
37	CEBPB	chr10:50508134-50508981	K562	blood:	n/a	n/a
38	CEBPB	chr10:50506830-50506955	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr10:50546397-50546597	H1-hESC	embryonic stem cell:	n/a	chr10:50546507-50546518
40	CEBPB	chr10:50493292-50493620	HepG2	liver:	n/a	n/a
41	CEBPB	chr10:50556357-50556364	K562	blood:	n/a	n/a
42	CEBPB	chr10:50493381-50493621	K562	blood:	n/a	n/a
43	CEBPB	chr10:50550469-50550525	HepG2	liver:	n/a	n/a
44	CEBPB	chr10:50527960-50528160	K562	blood:	n/a	n/a
45	CEBPB	chr10:50546349-50546687	K562	blood:	n/a	chr10:50546507-50546518
46	CEBPB	chr10:50532776-50532869	A549	lung:	n/a	n/a
47	CEBPB	chr10:50506679-50507248	K562	blood:	n/a	chr10:50506681-50506693
48	CEBPB	chr10:50546375-50546683	HepG2	liver:	n/a	chr10:50546507-50546518
49	CEBPB	chr10:50519382-50519523	HepG2	liver:	n/a	n/a
50	CEBPB	chr10:50546363-50546648	IMR90	lung:	n/a	chr10:50546507-50546518

(count:1407 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:50506293-50506343	NB4	blood:	n/a
2	chr10:50534598-50534648	GM19239	blood:	n/a
3	chr10:50507214-50507264	HEEpiC	esophagus:	n/a
4	chr10:50534436-50534486	HRE	kidney:	n/a
5	chr10:50506293-50506343	NB4	blood:	n/a
6	chr10:50534598-50534648	GM19239	blood:	n/a
7	chr10:50507214-50507264	HEEpiC	esophagus:	n/a
8	chr10:50534436-50534486	HRE	kidney:	n/a
9	chr10:50506875-50506925	AG09309	skin:	n/a
10	chr10:50507003-50507053	AG04449	skin:	fetal
11	chr10:50507092-50507142	ProgFib	skin:	n/a
12	chr10:50530719-50530769	GM06990	blood:	n/a
13	chr10:50533993-50534043	IMR90	lung:	fetal
14	chr10:50533993-50534043	AG09319	gingival:	n/a
15	chr10:50506896-50506946	GM12878	blood:	n/a
16	chr10:50506317-50506367	HRPEpiC	eye:	n/a
17	chr10:50507092-50507142	H1-hESC	embryonic stem cell:	embryo
18	chr10:50506293-50506343	PFSK-1	brain:	n/a
19	chr10:50534598-50534648	HPAEpiC	pulmonary alveolar:	n/a
20	chr10:50507003-50507053	SAEC	small airway:	n/a
21	chr10:50507092-50507142	HPAEpiC	pulmonary alveolar:	n/a
22	chr10:50534403-50534453	T-47D	breast:	n/a
23	chr10:50506293-50506343	SKMC	muscle:	n/a
24	chr10:50533993-50534043	GM12878	blood:	n/a
25	chr10:50507214-50507264	Caco-2	colon:	n/a
26	chr10:50507298-50507348	RPTEC	kidney:	n/a
27	chr10:50507092-50507142	ovcar-3	ovarian:	n/a
28	chr10:50507092-50507142	NHDF-neo	bronchial:	n/a
29	chr10:50534436-50534486	NHBE	bronchial:	n/a
30	chr10:50506885-50506935	HRCEpiC	kidney:	n/a
31	chr10:50507092-50507142	U87	brain:	n/a
32	chr10:50530719-50530769	HRCEpiC	kidney:	n/a
33	chr10:50512509-50512559	PFSK-1	brain:	n/a
34	chr10:50507092-50507142	HCM	heart:	n/a
35	chr10:50534403-50534453	PFSK-1	brain:	n/a
36	chr10:50530771-50530821	Caco-2	colon:	n/a
37	chr10:50506875-50506925	GM12891	blood:	n/a
38	chr10:50507298-50507348	Caco-2	colon:	n/a
39	chr10:50506875-50506925	HIPEpiC	eye:	n/a
40	chr10:50507298-50507348	AG10803	skin:	n/a
41	chr10:50506293-50506343	LNCaP	prostate:	n/a
42	chr10:50534403-50534453	U87	brain:	n/a
43	chr10:50506896-50506946	PFSK-1	brain:	n/a
44	chr10:50533993-50534043	RPTEC	kidney:	n/a
45	chr10:50536966-50537016	AG09309	skin:	n/a
46	chr10:50506896-50506946	HCF	heart:	n/a
47	chr10:50530771-50530821	MCF-7	breast:	n/a
48	chr10:50534598-50534648	HCM	heart:	n/a
49	chr10:50506293-50506343	PrEC	prostate:	n/a
50	chr10:50506748-50506798	NHDF-neo	bronchial:	n/a

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:50522197..50524972-chr10:50527699..50530228,2	K562	blood:
2	chr10:50132451..50134337-chr10:50514826..50516580,2	K562	blood:
3	chr10:50541425..50543053-chr10:50588433..50591403,2	MCF-7	breast:
4	chr10:50516625..50523164-chr10:50524827..50529904,7	K562	blood:
5	chr10:50477072..50479723-chr10:50481880..50483777,2	K562	blood:
6	chr10:50518724..50520939-chr10:50521170..50522767,2	K562	blood:
7	chr10:50531692..50533298-chr10:50539270..50542163,2	K562	blood:
8	chr10:50518664..50521454-chr10:50523153..50524705,2	K562	blood:
9	chr10:50476174..50479892-chr10:50480036..50482768,4	K562	blood:
10	chr10:50487004..50489223-chr10:50490139..50491748,2	K562	blood:
11	chr10:50532499..50533452-chr10:50615439..50616339,3	MCF-7	breast:
12	chr10:50536963..50540512-chr10:50542123..50548139,6	K562	blood:
13	chr10:50531446..50534180-chr10:50539215..50542269,3	K562	blood:
14	chr10:49718293..49721279-chr10:50504590..50507564,3	K562	blood:
15	chr10:50481532..50484429-chr10:50560256..50563104,2	K562	blood:
16	chr10:50538884..50540583-chr10:50556883..50559829,2	K562	blood:
17	chr10:50517433..50519865-chr10:50527374..50529904,2	K562	blood:
18	chr10:50384432..50385996-chr10:50507928..50509644,2	K562	blood:
19	chr10:50518724..50520939-chr10:50521170..50522767,2	K562	blood:
20	chr10:50531446..50534180-chr10:50539215..50542269,3	K562	blood:
21	chr10:50522197..50524972-chr10:50527699..50530228,2	K562	blood:
22	chr10:50506694..50508677-chr10:50523070..50524681,2	K562	blood:
23	chr10:50556443..50558537-chr10:50562122..50564726,2	K562	blood:
24	chr10:50536963..50540512-chr10:50542123..50548139,6	K562	blood:
25	chr10:50475395..50477674-chr10:50480122..50481734,2	K562	blood:
26	chr10:50518664..50521454-chr10:50523153..50524705,2	K562	blood:
27	chr10:50467089..50469467-chr10:50508943..50510857,2	K562	blood:
28	chr10:50506490..50508857-chr10:50525681..50528479,3	K562	blood:
29	chr10:50527598..50529126-chr10:50532227..50534014,2	K562	blood:
30	chr10:50531692..50533298-chr10:50539270..50542163,2	K562	blood:
31	chr10:50384969..50387621-chr10:50504946..50509741,4	K562	blood:
32	chr10:50527598..50529126-chr10:50532227..50534014,2	K562	blood:
33	chr10:50361956..50364273-chr10:50509060..50511829,2	K562	blood:
34	chr10:50322533..50324257-chr10:50507150..50509486,2	K562	blood:
35	chr10:50539771..50543599-chr10:50573240..50575854,3	MCF-7	breast:
36	chr10:50487004..50489223-chr10:50490139..50491748,2	K562	blood:
37	chr10:50539229..50541098-chr10:50542834..50545078,2	MCF-7	breast:
38	chr10:50507238..50509671-chr10:50517396..50520442,4	K562	blood:
39	chr10:50451424..50453022-chr10:50507349..50510137,2	K562	blood:
40	chr10:50477578..50479139-chr10:50508412..50510306,2	K562	blood:
41	chr10:50532596..50533234-chr10:50720810..50721429,2	MCF-7	breast:
42	chr10:50539229..50541098-chr10:50542834..50545078,2	MCF-7	breast:
43	chr10:50374066..50375952-chr10:50506772..50508302,2	K562	blood:
44	chr10:50467890..50470006-chr10:50498807..50500806,2	K562	blood:
45	chr10:50484423..50486164-chr10:50488112..50489860,2	K562	blood:
46	chr10:50389858..50392906-chr10:50482187..50485409,3	K562	blood:
47	chr10:50538884..50540583-chr10:50556883..50559829,2	K562	blood:
48	chr10:50543283..50544862-chr10:50573036..50574648,2	K562	blood:
49	chr10:50465169..50466715-chr10:50486145..50487685,2	K562	blood:
50	chr10:50543997..50546975-chr10:50547216..50549247,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAT-2	chr10:50524190-50524292	NONHSAT013303
2	lnc-DRGX-2	chr10:50506735-50506825	XLOC_008817
3	lnc-DRGX-2	chr10:50502784-50504818	NONHSAT013300
4	lnc-DRGX-2	chr10:50502784-50504818	NONHSAT013301
5	lnc-DRGX-2	chr10:50506735-50506938	NR_108038
6	lnc-DRGX-2	chr10:50504328-50504818	NR_108038
7	lnc-DRGX-2	chr10:50506854-50507013	NONHSAT013300
8	lnc-DRGX-2	chr10:50504157-50504818	XLOC_008817
9	lnc-DRGX-2	chr10:50504508-50504812	XLOC_008817
10	lnc-DRGX-2	chr10:50506854-50507063	XLOC_008817
11	lnc-DRGX-2	chr10:50506735-50506945	XLOC_008817
12	lnc-DRGX-2	chr10:50504495-50504818	XLOC_008817
13	lnc-CHAT-2	chr10:50507319-50507499	NONHSAT013303
14	lnc-DRGX-2	chr10:50506735-50506846	NONHSAT013301

No data

Variant related genes	Relation type
C10orf71	TF binding region
C10orf71-AS1	TF binding region
C10orf71	CpG island
C10orf71-AS1	CpG island
ENSG00000128805	chromatin interactions
ENSG00000177354	chromatin interactions
ENSG00000248682	chromatin interactions
ENSG00000165633	chromatin interactions
ENSG00000204161	chromatin interactions
ENSG00000236208	chromatin interactions
TMX3	miRNA target sites

Extended variants
information (count: 3151 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3151 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7899869	chr10:50480164-50480165	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143791361	chr10:50480176-50480177	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs551175517	chr10:50480275-50480276	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148133621	chr10:50480288-50480289	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs140938045	chr10:50480313-50480314	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs557376066	chr10:50480324-50480325	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564805851	chr10:50480325-50480326	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs144686899	chr10:50480342-50480343	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs138566729	chr10:50480355-50480356	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560703773	chr10:50480356-50480357	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs4483512	chr10:50480390-50480391	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34306273	chr10:50480420-50480421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540291270	chr10:50480447-50480448	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141532954	chr10:50480462-50480463	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs532261928	chr10:50480538-50480539	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs550302099	chr10:50480557-50480558	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544858436	chr10:50480567-50480568	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550373237	chr10:50480586-50480587	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562508202	chr10:50480608-50480609	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs10857459	chr10:50480627-50480628	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549699064	chr10:50480644-50480645	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs138108986	chr10:50480645-50480646	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs566812313	chr10:50480657-50480658	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs191616195	chr10:50480660-50480661	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs149530851	chr10:50480734-50480735	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs183853307	chr10:50480741-50480742	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs535586779	chr10:50480743-50480744	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs144075090	chr10:50480749-50480750	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs12254955	chr10:50480763-50480764	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs28728361	chr10:50480779-50480780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189928624	chr10:50480793-50480794	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs75658947	chr10:50480803-50480804	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs572836748	chr10:50480842-50480843	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs116377820	chr10:50480873-50480874	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs370639665	chr10:50480907-50480908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs78596688	chr10:50480908-50480909	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs576855213	chr10:50480909-50480910	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs544302196	chr10:50480913-50480914	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs562418761	chr10:50480947-50480948	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs529734601	chr10:50480959-50480960	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs543308200	chr10:50480962-50480963	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs73303722	chr10:50480972-50480973	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192174668	chr10:50480996-50480997	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs368114831	chr10:50481001-50481002	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148668827	chr10:50481063-50481064	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571823750	chr10:50481068-50481069	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532454604	chr10:50481087-50481088	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550684517	chr10:50481099-50481100	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12357223	chr10:50481111-50481112	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs142791362	chr10:50481116-50481117	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
T-cell primary immunodeficiency	21948486	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50470800-50480800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:50477800-50480400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:50478000-50480600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:50478200-50481800	Enhancers	Left Ventricle	heart
5	chr10:50478200-50482000	Enhancers	Fetal Heart	heart
6	chr10:50478200-50482200	Enhancers	Primary hematopoietic stem cells	blood
7	chr10:50478200-50482400	Enhancers	Fetal Muscle Leg	muscle
8	chr10:50478400-50482000	Enhancers	Fetal Muscle Trunk	muscle
9	chr10:50478600-50481600	Enhancers	Psoas Muscle	Psoas
10	chr10:50478600-50481600	Enhancers	Right Ventricle	heart
11	chr10:50478600-50481600	Enhancers	Spleen	Spleen
12	chr10:50478600-50483200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr10:50478800-50481600	Enhancers	Right Atrium	heart
14	chr10:50478800-50482000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr10:50479000-50481800	Enhancers	NHDF-Ad	bronchial
16	chr10:50479000-50482000	Enhancers	HSMMtube	muscle
17	chr10:50479200-50480200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:50479200-50481600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:50479200-50483200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:50479400-50481000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:50479600-50480400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr10:50479600-50481200	Enhancers	NHLF	lung
23	chr10:50479800-50480600	Enhancers	Osteobl	bone
24	chr10:50479800-50481000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:50479800-50481600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr10:50479800-50482000	Enhancers	Placenta	Placenta
27	chr10:50480000-50480200	Flanking Active TSS	HSMM	muscle
28	chr10:50480000-50480800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr10:50480000-50481000	Enhancers	K562	blood
30	chr10:50480000-50481600	Enhancers	Adipose Nuclei	Adipose
31	chr10:50480000-50482000	Enhancers	Primary B cells from peripheral blood	blood
32	chr10:50480200-50480600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:50480200-50480600	Enhancers	HSMM	muscle
34	chr10:50480200-50480800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:50480200-50481000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr10:50480200-50481200	Enhancers	Lung	lung
37	chr10:50480200-50481400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:50480200-50481400	Enhancers	Stomach Smooth Muscle	stomach
39	chr10:50480200-50482000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr10:50480200-50482000	Enhancers	Fetal Thymus	thymus
41	chr10:50480400-50480800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr10:50480400-50481400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:50480400-50481600	Enhancers	Fetal Stomach	stomach
44	chr10:50480400-50481800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr10:50480400-50482000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr10:50480600-50481000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr10:50480600-50481000	Flanking Active TSS	Osteobl	bone
48	chr10:50480600-50481200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr10:50480600-50481200	Flanking Active TSS	HSMM	muscle
50	chr10:50480600-50482000	Enhancers	Primary B cells from cord blood	blood

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