Variant report

Variant	nsv1031829
Chromosome Location	chr5:178442633-178658706
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1435)
CpG islands
(count:6967)
Chromatin interactive
region (count:86)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1435 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:178570502-178570786	K562	blood:	n/a	n/a
2	ARID3A	chr5:178614256-178614523	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:178570524-178570804	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:178450529-178450765	HepG2	liver:	n/a	n/a
5	ATF1	chr5:178516546-178516874	K562	blood:	n/a	n/a
6	ATF1	chr5:178658394-178658571	K562	blood:	n/a	n/a
7	ATF2	chr5:178570450-178570822	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr5:178570381-178570760	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr5:178587754-178587897	K562	blood:	n/a	n/a
10	ATF3	chr5:178570449-178570756	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr5:178516536-178516788	K562	blood:	n/a	chr5:178516689-178516699 chr5:178516688-178516703 chr5:178516689-178516702 chr5:178516691-178516711 chr5:178516692-178516702 chr5:178516688-178516701 chr5:178516690-178516701 chr5:178516692-178516700 chr5:178516692-178516699 chr5:178516690-178516701
12	BACH1	chr5:178481413-178481714	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr5:178481513-178481613	K562	blood:	n/a	n/a
14	BATF	chr5:178475729-178476166	GM12878	blood:	n/a	n/a
15	BATF	chr5:178475617-178476112	GM12878	blood:	n/a	n/a
16	BCL11A	chr5:178475632-178476123	GM12878	blood:	n/a	n/a
17	BCL11A	chr5:178475718-178476032	GM12878	blood:	n/a	n/a
18	BCL3	chr5:178650193-178650886	GM12878	blood:	n/a	n/a
19	BCL3	chr5:178650528-178650927	GM12878	blood:	n/a	n/a
20	BHLHE40	chr5:178655800-178656133	K562	blood:	n/a	n/a
21	BHLHE40	chr5:178639943-178640216	K562	blood:	n/a	n/a
22	BHLHE40	chr5:178594178-178594361	GM12878	blood:	n/a	chr5:178594259-178594275
23	BHLHE40	chr5:178622593-178622738	K562	blood:	n/a	chr5:178622682-178622695
24	BHLHE40	chr5:178496356-178496412	K562	blood:	n/a	n/a
25	BHLHE40	chr5:178450583-178450973	K562	blood:	n/a	n/a
26	BHLHE40	chr5:178594282-178594482	K562	blood:	n/a	n/a
27	BRCA1	chr5:178487152-178487471	H1-hESC	embryonic stem cell:	n/a	n/a
28	CBX3	chr5:178587627-178587883	K562	blood:	n/a	n/a
29	CCNT2	chr5:178516589-178516784	K562	blood:	n/a	n/a
30	CCNT2	chr5:178594142-178594401	K562	blood:	n/a	n/a
31	CCNT2	chr5:178450829-178451180	K562	blood:	n/a	n/a
32	CEBPB	chr5:178628243-178628559	HepG2	liver:	n/a	chr5:178628403-178628414
33	CEBPB	chr5:178628273-178628533	H1-hESC	embryonic stem cell:	n/a	chr5:178628403-178628414
34	CEBPB	chr5:178628215-178628562	K562	blood:	n/a	chr5:178628403-178628414
35	CEBPB	chr5:178475566-178475775	HepG2	liver:	n/a	chr5:178475696-178475707
36	CEBPB	chr5:178450536-178450937	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr5:178628252-178628543	Hela-S3	cervix:	n/a	chr5:178628403-178628414
38	CEBPB	chr5:178491913-178492012	HepG2	liver:	n/a	chr5:178491980-178491991
39	CEBPB	chr5:178577826-178577892	HepG2	liver:	n/a	chr5:178577847-178577858
40	CEBPB	chr5:178648671-178648772	K562	blood:	n/a	chr5:178648732-178648743
41	CEBPB	chr5:178628311-178628506	A549	lung:	n/a	chr5:178628403-178628414
42	CEBPB	chr5:178519193-178519255	HepG2	liver:	n/a	chr5:178519229-178519240
43	CEBPB	chr5:178648617-178648858	HepG2	liver:	n/a	chr5:178648732-178648743
44	CEBPB	chr5:178628227-178628571	IMR90	lung:	n/a	chr5:178628403-178628414
45	CEBPB	chr5:178475745-178475761	A549	lung:	n/a	n/a
46	CHD2	chr5:178614494-178614650	HepG2	liver:	n/a	chr5:178614596-178614606
47	CHD2	chr5:178613153-178613270	HepG2	liver:	n/a	n/a
48	CHD2	chr5:178487037-178487551	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr5:178450606-178450764	HepG2	liver:	n/a	n/a
50	CHD2	chr5:178654633-178654914	H1-hESC	embryonic stem cell:	n/a	n/a

(count:6967 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178622080-178622130	HCF	heart:	n/a
2	chr5:178658477-178658527	AG04449	skin:	fetal
3	chr5:178580645-178580695	H1-hESC	embryonic stem cell:	embryo
4	chr5:178655042-178655092	GM12878	blood:	n/a
5	chr5:178567126-178567176	GM12878	blood:	n/a
6	chr5:178545514-178545564	K562	blood:	n/a
7	chr5:178451176-178451226	HMEC	breast:	n/a
8	chr5:178487500-178487550	AG04450	lung:	fetal
9	chr5:178591479-178591529	ProgFib	skin:	n/a
10	chr5:178489201-178489251	HNPCEpiC	eye:	n/a
11	chr5:178594649-178594699	T-47D	breast:	n/a
12	chr5:178450763-178450813	LNCaP	prostate:	n/a
13	chr5:178645682-178645732	SK-N-SH_RA	brain:	n/a
14	chr5:178622080-178622130	HCF	heart:	n/a
15	chr5:178658477-178658527	AG04449	skin:	fetal
16	chr5:178580645-178580695	H1-hESC	embryonic stem cell:	embryo
17	chr5:178655042-178655092	GM12878	blood:	n/a
18	chr5:178567126-178567176	GM12878	blood:	n/a
19	chr5:178545514-178545564	K562	blood:	n/a
20	chr5:178451176-178451226	HMEC	breast:	n/a
21	chr5:178487500-178487550	AG04450	lung:	fetal
22	chr5:178591479-178591529	ProgFib	skin:	n/a
23	chr5:178489201-178489251	HNPCEpiC	eye:	n/a
24	chr5:178594649-178594699	T-47D	breast:	n/a
25	chr5:178450763-178450813	LNCaP	prostate:	n/a
26	chr5:178645682-178645732	SK-N-SH_RA	brain:	n/a
27	chr5:178487481-178487531	GM06990	blood:	n/a
28	chr5:178565917-178565967	HCF	heart:	n/a
29	chr5:178594649-178594699	Hepatocyte	liver:	n/a
30	chr5:178447119-178447169	PFSK-1	brain:	n/a
31	chr5:178545514-178545564	HMEC	breast:	n/a
32	chr5:178554242-178554292	HIPEpiC	eye:	n/a
33	chr5:178548229-178548279	PANC-1	pancreas:	n/a
34	chr5:178552097-178552147	HCM	heart:	n/a
35	chr5:178487500-178487550	HPAEpiC	pulmonary alveolar:	n/a
36	chr5:178565721-178565771	HNPCEpiC	eye:	n/a
37	chr5:178577498-178577548	AG04450	lung:	fetal
38	chr5:178450758-178450808	HCT-116	colon:	n/a
39	chr5:178658501-178658551	HPAEpiC	pulmonary alveolar:	n/a
40	chr5:178598142-178598192	BE2_C	brain:	n/a
41	chr5:178547863-178547913	AG09319	gingival:	n/a
42	chr5:178478236-178478286	H1-hESC	embryonic stem cell:	embryo
43	chr5:178545115-178545165	HRCEpiC	kidney:	n/a
44	chr5:178656269-178656319	AoSMC	blood vessel:	n/a
45	chr5:178618678-178618728	U87	brain:	n/a
46	chr5:178455197-178455247	HCPEpiC	choroid plexus:	n/a
47	chr5:178651200-178651250	AoSMC	blood vessel:	n/a
48	chr5:178567126-178567176	SK-N-SH	brain:	n/a
49	chr5:178580561-178580611	SKMC	muscle:	n/a
50	chr5:178598142-178598192	PrEC	prostate:	n/a

(count:86 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:178613030..178614553-chr5:178617663..178620440,2	K562	blood:
2	chr5:178483141..178486203-chr5:178488375..178491712,3	MCF-7	breast:
3	chr5:178650071..178651966-chr5:178658345..178660809,2	MCF-7	breast:
4	chr5:178583720..178585825-chr5:178586641..178588375,2	K562	blood:
5	chr5:178637418..178640045-chr5:178643551..178645345,3	MCF-7	breast:
6	chr5:178445660..178448153-chr5:178448435..178450460,2	MCF-7	breast:
7	chr5:178508305..178510572-chr5:178515516..178518368,2	K562	blood:
8	chr5:178547111..178548845-chr5:178551796..178553713,2	K562	blood:
9	chr5:178652878..178655223-chr5:178665952..178668603,2	K562	blood:
10	chr5:178460496..178462361-chr5:178485766..178487782,2	MCF-7	breast:
11	chr5:178490747..178493004-chr5:178499608..178501771,2	K562	blood:
12	chr5:178483141..178486203-chr5:178488375..178491712,3	MCF-7	breast:
13	chr5:178606888..178609097-chr5:178620867..178622421,2	MCF-7	breast:
14	chr5:178619900..178622290-chr5:178622494..178625423,2	MCF-7	breast:
15	chr5:178488576..178490984-chr5:178494204..178495758,2	MCF-7	breast:
16	chr5:178488531..178490916-chr5:178493267..178496128,2	MCF-7	breast:
17	chr5:178464139..178466564-chr5:178484015..178485914,2	K562	blood:
18	chr5:178613030..178614553-chr5:178617663..178620440,2	K562	blood:
19	chr5:178631257..178632902-chr5:178635722..178638591,2	K562	blood:
20	chr5:178599047..178601683-chr5:178602682..178604778,3	K562	blood:
21	chr5:178626882..178628440-chr5:178635586..178638472,2	MCF-7	breast:
22	chr5:178547111..178548845-chr5:178551796..178553713,2	K562	blood:
23	chr5:178451565..178453293-chr5:178455866..178457677,2	MCF-7	breast:
24	chr5:178450567..178452511-chr5:178457855..178459672,2	MCF-7	breast:
25	chr5:178559035..178560886-chr5:178563328..178565903,2	K562	blood:
26	chr5:178595920..178597681-chr5:178605368..178607876,2	MCF-7	breast:
27	chr1:149223934..149224436-chr5:178546980..178547500,3	MCF-7	breast:
28	chr3:64008784..64009514-chr5:178540831..178541760,2	MCF-7	breast:
29	chr5:178488576..178490984-chr5:178494204..178495758,2	MCF-7	breast:
30	chr5:178595920..178597681-chr5:178605368..178607876,2	MCF-7	breast:
31	chr1:149223586..149225383-chr5:178547000..178548500,2	MCF-7	breast:
32	chr5:178482671..178485018-chr5:178485499..178487463,2	MCF-7	breast:
33	chr5:178631257..178632902-chr5:178635722..178638591,2	K562	blood:
34	chr5:178486677..178489431-chr5:178490895..178493650,2	MCF-7	breast:
35	chr5:178579999..178581669-chr5:178587423..178589774,2	MCF-7	breast:
36	chr5:178490747..178493004-chr5:178499608..178501771,2	K562	blood:
37	chr5:178488531..178490916-chr5:178493267..178496128,2	MCF-7	breast:
38	chr5:178449642..178452190-chr5:178454798..178457420,2	MCF-7	breast:
39	chr5:178599047..178601683-chr5:178602682..178604778,3	K562	blood:
40	chr5:178542353..178545239-chr5:178546502..178548105,2	K562	blood:
41	chr5:178593773..178595177-chr5:178920715..178921686,6	MCF-7	breast:
42	chr5:178545417..178547035-chr5:178698975..178701216,2	K562	blood:
43	chr5:178538154..178541379-chr5:178543841..178547566,3	MCF-7	breast:
44	chr5:178547111..178548841-chr5:178551234..178553296,2	K562	blood:
45	chr5:178483088..178485401-chr5:178485853..178487367,2	MCF-7	breast:
46	chr5:178487018..178488525-chr5:178506434..178508036,2	MCF-7	breast:
47	chr5:178649094..178651976-chr5:178660819..178662665,2	MCF-7	breast:
48	chr5:178619900..178622290-chr5:178622494..178625423,2	MCF-7	breast:
49	chr5:178487796..178490140-chr5:178490313..178493225,2	MCF-7	breast:
50	chr5:178605814..178608090-chr5:178611906..178613466,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRM6-4	chr5:178537854-178540736	NONHSAT105574
2	lnc-GRM6-4	chr5:178537868-178539359	NONHSAT105575

No data

Variant related genes	Relation type
ENSG00000253144	TF binding region
ADAMTS2	TF binding region
ZNF879	TF binding region
ZNF354C	TF binding region
ENSG00000253144	CpG island
ADAMTS2	CpG island
ZNF879	CpG island
ZNF354C	CpG island
ENSG00000178338	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000087116	chromatin interactions
ENSG00000253144	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000234284	chromatin interactions
ENSG00000177932	chromatin interactions

Extended variants
information (count: 9090 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:9090 , 50 per page) page: 1 2 3 4 5 6 7 ... 182

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531748306	chr5:178442648-178442649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs536407461	chr5:178442654-178442655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs145117478	chr5:178442663-178442664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs150939398	chr5:178442700-178442701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs371651977	chr5:178442729-178442730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs190443980	chr5:178442773-178442774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs116821567	chr5:178442833-178442834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs73340547	chr5:178442838-178442839	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573140829	chr5:178442847-178442848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs561496407	chr5:178442851-178442852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539317716	chr5:178442853-178442854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551264512	chr5:178442854-178442855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs140679974	chr5:178442855-178442856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs560759750	chr5:178442983-178442984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs150171160	chr5:178442984-178442985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs181694661	chr5:178443002-178443003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573715005	chr5:178443018-178443019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs138623437	chr5:178443162-178443163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs184638095	chr5:178443189-178443190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs188963797	chr5:178447120-178447121	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs562948434	chr5:178447156-178447157	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs562078510	chr5:178447157-178447158	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs539102945	chr5:178448082-178448083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs180778877	chr5:178448116-178448117	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs139541696	chr5:178448143-178448144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs564631740	chr5:178448418-178448419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548747892	chr5:178448447-178448448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531389254	chr5:178448479-178448480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186073804	chr5:178448555-178448556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73805397	chr5:178448593-178448594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs371544300	chr5:178448689-178448690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376493035	chr5:178448690-178448691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529102322	chr5:178448691-178448692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6858888	chr5:178448700-178448701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565329618	chr5:178448705-178448706	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs139070632	chr5:178448721-178448722	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs144161067	chr5:178448726-178448727	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs569769360	chr5:178448766-178448767	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs368252440	chr5:178448797-178448798	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs146507225	chr5:178448806-178448807	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs556690964	chr5:178448814-178448815	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs574937314	chr5:178448825-178448826	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs116056301	chr5:178448867-178448868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554551100	chr5:178448898-178448899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190584116	chr5:178448925-178448926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546252042	chr5:178448944-178448945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141015407	chr5:178448957-178448958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182020659	chr5:178448990-178448991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6888539	chr5:178449010-178449011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs186256791	chr5:178449023-178449024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3514 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178442200-178443200	ZNF genes & repeats	Liver	Liver
2	chr5:178448400-178450200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:178449600-178449800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:178449600-178451600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:178449800-178450000	ZNF genes & repeats	Liver	Liver
6	chr5:178449800-178450200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:178449800-178450200	Enhancers	HUVEC	blood vessel
8	chr5:178449800-178451000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr5:178449800-178451200	Active TSS	Brain Anterior Caudate	brain
10	chr5:178449800-178451200	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr5:178449800-178451400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:178449800-178451400	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr5:178449800-178451600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:178449800-178451600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr5:178449800-178451600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:178449800-178451600	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr5:178449800-178451800	Active TSS	HMEC	breast
18	chr5:178449800-178452000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:178449800-178452000	Active TSS	Psoas Muscle	Psoas
20	chr5:178450000-178450200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:178450000-178450200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
22	chr5:178450000-178450200	Enhancers	Primary B cells from peripheral blood	blood
23	chr5:178450000-178450200	Active TSS	Primary T cells fromperipheralblood	blood
24	chr5:178450000-178450200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:178450000-178450200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:178450000-178450200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:178450000-178450200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr5:178450000-178450200	Active TSS	Fetal Muscle Trunk	muscle
29	chr5:178450000-178451000	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr5:178450000-178451200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:178450000-178451200	Active TSS	Adipose Nuclei	Adipose
32	chr5:178450000-178451200	Active TSS	Fetal Brain Female	brain
33	chr5:178450000-178451400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:178450000-178451600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:178450000-178451600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr5:178450000-178451600	Active TSS	Fetal Stomach	stomach
37	chr5:178450000-178451600	Active TSS	Right Atrium	heart
38	chr5:178450000-178451800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr5:178450000-178452200	Active TSS	Duodenum Mucosa	Duodenum
40	chr5:178450000-178452200	Active TSS	Fetal Kidney	kidney
41	chr5:178450200-178450400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:178450200-178450400	Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr5:178450200-178450400	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr5:178450200-178450400	Flanking Active TSS	Esophagus	oesophagus
45	chr5:178450200-178450400	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr5:178450200-178450400	Flanking Active TSS	Ovary	ovary
47	chr5:178450200-178450600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr5:178450200-178450600	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr5:178450200-178450600	Active TSS	Primary hematopoietic stem cells	blood
50	chr5:178450200-178450600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links