Variant report

Variant	nsv590211
Chromosome Location	chr3:47189485-47256057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1167)
CpG islands
(count:917)
Chromatin interactive
region (count:50)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1167 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:47205658-47205920	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:47206259-47206469	K562	blood:	n/a	n/a
3	ARID3A	chr3:47194017-47194314	K562	blood:	n/a	n/a
4	ARID3A	chr3:47191803-47192109	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:47225033-47225090	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:47203930-47204531	K562	blood:	n/a	n/a
7	ARID3A	chr3:47191183-47191388	HepG2	liver:	n/a	n/a
8	ATF2	chr3:47217034-47217800	GM12878	blood:	n/a	n/a
9	ATF2	chr3:47206050-47206556	GM12878	blood:	n/a	n/a
10	ATF3	chr3:47205353-47206118	K562	blood:	n/a	chr3:47205626-47205640
11	BACH1	chr3:47204619-47204966	K562	blood:	n/a	n/a
12	BACH1	chr3:47204998-47205065	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr3:47205775-47206184	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr3:47205814-47205895	K562	blood:	n/a	n/a
15	BACH1	chr3:47227914-47228096	K562	blood:	n/a	n/a
16	BCL3	chr3:47205540-47206084	A549	lung:	n/a	chr3:47205768-47205781 chr3:47205884-47205897
17	BCLAF1	chr3:47204520-47205114	GM12878	blood:	n/a	chr3:47204624-47204633 chr3:47204976-47204989 chr3:47204781-47204794
18	BCLAF1	chr3:47204267-47205023	GM12878	blood:	n/a	chr3:47204624-47204633 chr3:47204976-47204989 chr3:47204781-47204794
19	BCLAF1	chr3:47217027-47217718	GM12878	blood:	n/a	chr3:47217406-47217415
20	BCLAF1	chr3:47205517-47205927	GM12878	blood:	n/a	chr3:47205768-47205781 chr3:47205884-47205897
21	BCLAF1	chr3:47204962-47205980	K562	blood:	n/a	chr3:47205108-47205117 chr3:47205416-47205429 chr3:47205161-47205174 chr3:47205449-47205462 chr3:47205768-47205781 chr3:47204976-47204989 chr3:47205884-47205897
22	BCLAF1	chr3:47203416-47203904	GM12878	blood:	n/a	chr3:47203679-47203688
23	BCLAF1	chr3:47205514-47205996	GM12878	blood:	n/a	chr3:47205768-47205781 chr3:47205884-47205897
24	BCLAF1	chr3:47205942-47206765	GM12878	blood:	n/a	n/a
25	BHLHE40	chr3:47217162-47217674	GM12878	blood:	n/a	n/a
26	BHLHE40	chr3:47204184-47204795	GM12878	blood:	n/a	n/a
27	BHLHE40	chr3:47204099-47204741	K562	blood:	n/a	n/a
28	BHLHE40	chr3:47205001-47206468	K562	blood:	n/a	chr3:47206092-47206108 chr3:47205158-47205174 chr3:47205304-47205320 chr3:47205443-47205459 chr3:47206100-47206116 chr3:47205150-47205166 chr3:47205312-47205328
29	BHLHE40	chr3:47205507-47206641	GM12878	blood:	n/a	chr3:47206092-47206108 chr3:47206100-47206116
30	BRCA1	chr3:47205687-47205865	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr3:47206248-47206563	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr3:47205024-47205030	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr3:47205758-47205768	HepG2	liver:	n/a	n/a
34	BRCA1	chr3:47205629-47205829	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr3:47204677-47204890	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr3:47205565-47205976	K562	blood:	n/a	n/a
37	CBX3	chr3:47235716-47236287	K562	blood:	n/a	n/a
38	CBX3	chr3:47205467-47206585	K562	blood:	n/a	n/a
39	CBX3	chr3:47235780-47236020	K562	blood:	n/a	n/a
40	CCNT2	chr3:47204688-47206434	K562	blood:	n/a	chr3:47205817-47205826 chr3:47205083-47205092 chr3:47205468-47205477 chr3:47205473-47205482
41	CEBPB	chr3:47203849-47204545	K562	blood:	n/a	chr3:47204051-47204062
42	CEBPB	chr3:47223286-47223444	IMR90	lung:	n/a	n/a
43	CEBPB	chr3:47223164-47223497	K562	blood:	n/a	n/a
44	CEBPB	chr3:47252599-47252823	IMR90	lung:	n/a	chr3:47252681-47252692
45	CEBPB	chr3:47205203-47205294	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr3:47203889-47204246	HepG2	liver:	n/a	chr3:47204051-47204062
47	CEBPB	chr3:47235455-47235891	IMR90	lung:	n/a	n/a
48	CEBPB	chr3:47252537-47252743	HepG2	liver:	n/a	chr3:47252681-47252692
49	CEBPB	chr3:47206579-47206841	IMR90	lung:	n/a	n/a
50	CEBPB	chr3:47252492-47252857	K562	blood:	n/a	chr3:47252681-47252692

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:47210162-47210212	NB4	blood:	n/a
2	chr3:47191823-47191873	U87	brain:	n/a
3	chr3:47210162-47210212	NB4	blood:	n/a
4	chr3:47191823-47191873	U87	brain:	n/a
5	chr3:47206647-47206697	NHBE	bronchial:	n/a
6	chr3:47205434-47205484	U87	brain:	n/a
7	chr3:47205858-47205908	NH-A	brain:	n/a
8	chr3:47205630-47205680	ovcar-3	ovarian:	n/a
9	chr3:47204651-47204701	HIPEpiC	eye:	n/a
10	chr3:47205434-47205484	LNCaP	prostate:	n/a
11	chr3:47206301-47206351	SAEC	small airway:	n/a
12	chr3:47206301-47206351	GM12892	blood:	n/a
13	chr3:47206647-47206697	HRE	kidney:	n/a
14	chr3:47205788-47205838	NB4	blood:	n/a
15	chr3:47205858-47205908	BJ	skin:	n/a
16	chr3:47206647-47206697	Hepatocyte	liver:	n/a
17	chr3:47205643-47205693	NHBE	bronchial:	n/a
18	chr3:47210162-47210212	GM12878	blood:	n/a
19	chr3:47205656-47205706	HUVEC	blood vessel:	n/a
20	chr3:47204927-47204977	SAEC	small airway:	n/a
21	chr3:47206301-47206351	AG10803	skin:	n/a
22	chr3:47204651-47204701	NT2-D1	testis:	n/a
23	chr3:47210162-47210212	SAEC	small airway:	n/a
24	chr3:47205643-47205693	NH-A	brain:	n/a
25	chr3:47205788-47205838	AG04449	skin:	fetal
26	chr3:47206301-47206351	NH-A	brain:	n/a
27	chr3:47210162-47210212	PANC-1	pancreas:	n/a
28	chr3:47202493-47202543	H1-hESC	embryonic stem cell:	embryo
29	chr3:47210162-47210212	HIPEpiC	eye:	n/a
30	chr3:47206301-47206351	HNPCEpiC	eye:	n/a
31	chr3:47205788-47205838	GM12892	blood:	n/a
32	chr3:47205858-47205908	HCT-116	colon:	n/a
33	chr3:47206647-47206697	AG04450	lung:	fetal
34	chr3:47205656-47205706	GM06990	blood:	n/a
35	chr3:47205656-47205706	Jurkat	blood:	n/a
36	chr3:47210162-47210212	HMEC	breast:	n/a
37	chr3:47202493-47202543	NHBE	bronchial:	n/a
38	chr3:47202493-47202543	LNCaP	prostate:	n/a
39	chr3:47205788-47205838	Caco-2	colon:	n/a
40	chr3:47205630-47205680	HIPEpiC	eye:	n/a
41	chr3:47210162-47210212	H1-hESC	embryonic stem cell:	embryo
42	chr3:47202493-47202543	HPAEpiC	pulmonary alveolar:	n/a
43	chr3:47205656-47205706	HPAEpiC	pulmonary alveolar:	n/a
44	chr3:47202493-47202543	SK-N-SH_RA	brain:	n/a
45	chr3:47205627-47205677	RPTEC	kidney:	n/a
46	chr3:47191823-47191873	H1-hESC	embryonic stem cell:	embryo
47	chr3:47210162-47210212	NHBE	bronchial:	n/a
48	chr3:47205434-47205484	ECC-1	luminal epithelium:	n/a
49	chr3:47191823-47191873	HRPEpiC	eye:	n/a
50	chr3:47205434-47205484	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:47187957..47190858-chr3:47193196..47195551,2	K562	blood:
2	chr3:47244578..47247467-chr3:47322927..47324918,2	MCF-7	breast:
3	chr3:47204211..47206785-chr3:47421682..47423744,2	K562	blood:
4	chr3:47184671..47186867-chr3:47196509..47199504,2	MCF-7	breast:
5	chr3:47204122..47207133-chr3:47321636..47325818,4	K562	blood:
6	chr3:47203222..47204974-chr3:47216567..47218199,2	K562	blood:
7	chr3:47206330..47207935-chr3:47269635..47272422,2	K562	blood:
8	chr3:47206205..47208829-chr3:47228493..47230499,2	K562	blood:
9	chr3:47212127..47215555-chr3:47216166..47219089,5	K562	blood:
10	chr3:47246768..47248949-chr3:47249706..47251385,2	K562	blood:
11	chr3:47192656..47195424-chr3:47287048..47290020,2	K562	blood:
12	chr3:47204839..47206673-chr3:47316671..47318992,2	K562	blood:
13	chr3:47212127..47213926-chr3:47216166..47217763,2	K562	blood:
14	chr3:47189860..47191745-chr3:47198153..47199687,2	K562	blood:
15	chr3:47203222..47204974-chr3:47216567..47218199,2	K562	blood:
16	chr3:47215840..47217709-chr3:47242966..47244606,2	K562	blood:
17	chr3:47206205..47208829-chr3:47228493..47230499,2	K562	blood:
18	chr3:47251688..47253992-chr3:47255323..47258020,3	K562	blood:
19	chr3:47254260..47256683-chr3:47261651..47264367,2	MCF-7	breast:
20	chr3:47203577..47205455-chr3:47421565..47423969,3	MCF-7	breast:
21	chr3:47122254..47124275-chr3:47192922..47194900,2	K562	blood:
22	chr3:47189967..47191564-chr3:47204385..47206673,2	MCF-7	breast:
23	chr3:47193971..47196675-chr3:47199347..47201120,2	K562	blood:
24	chr3:47189860..47191745-chr3:47198153..47199687,2	K562	blood:
25	chr3:47184823..47187568-chr3:47200664..47202534,2	K562	blood:
26	chr3:47206313..47209230-chr3:47234534..47237007,2	K562	blood:
27	chr3:47251688..47253992-chr3:47255323..47258020,3	K562	blood:
28	chr3:47216807..47218782-chr3:47220055..47222409,2	K562	blood:
29	chr3:47215840..47217709-chr3:47242966..47244606,2	K562	blood:
30	chr3:47209847..47212241-chr3:47213273..47215317,2	K562	blood:
31	chr3:47175569..47177603-chr3:47199664..47202518,2	K562	blood:
32	chr3:47193971..47196675-chr3:47199347..47201120,2	K562	blood:
33	chr3:47212755..47215203-chr3:47233129..47236003,2	K562	blood:
34	chr3:47212127..47215555-chr3:47216166..47219089,5	K562	blood:
35	chr3:47212755..47215203-chr3:47233129..47236003,2	K562	blood:
36	chr3:47216807..47218782-chr3:47220055..47222409,2	K562	blood:
37	chr3:47205324..47205884-chr5:39074182..39075163,2	Hela-S3	cervix:
38	chr3:47209847..47212241-chr3:47213273..47215317,2	K562	blood:
39	chr3:47205606..47207421-chr3:47222256..47224382,2	K562	blood:
40	chr3:47185004..47187148-chr3:47202667..47204488,3	K562	blood:
41	chr3:47047075..47049174-chr3:47204688..47207568,2	K562	blood:
42	chr3:47206313..47209230-chr3:47234534..47237007,2	K562	blood:
43	chr3:47144386..47146568-chr3:47206115..47208943,2	K562	blood:
44	chr3:47205609..47207145-chr3:47226489..47228107,2	K562	blood:
45	chr3:47187957..47190858-chr3:47193196..47195551,2	K562	blood:
46	chr3:47204166..47205955-chr3:47210547..47213493,2	MCF-7	breast:
47	chr3:47244351..47246647-chr3:47288782..47291421,2	K562	blood:
48	chr3:47246768..47248949-chr3:47249706..47251385,2	K562	blood:
49	chr3:47195998..47198423-chr3:47353673..47355758,2	K562	blood:
50	chr3:47212127..47213926-chr3:47216166..47217763,2	K562	blood:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL18-1	chr3:47205721-47206087	XLOC_002636
2	lnc-SETD2-1	chr3:47214038-47214531	NONHSAT089481
3	lnc-KLHL18-6	chr3:47234969-47239512	NONHSAT089483
4	lnc-KLHL18-1	chr3:47205987-47206087	NONHSAT089479
5	lnc-KLHL18-1	chr3:47205987-47206087	ENSG00000227398
6	lnc-KLHL18-1	chr3:47217207-47217364	XLOC_002636
7	lnc-NBEAL2-2	chr3:47192211-47192368	l_2362_chr3:47180551-47192368_testes
8	lnc-KLHL18-1	chr3:47205469-47206087	NONHSAT089476
9	lnc-KLHL18-1	chr3:47210659-47212289	NONHSAT089476
10	lnc-KLHL18-1	chr3:47210663-47210886	XLOC_002636
11	lnc-KLHL18-1	chr3:47205987-47206087	ENSG00000227398.3
12	lnc-SETD2-1	chr3:47211228-47211657	NONHSAT089481
13	lnc-KLHL18-1	chr3:47210659-47210886	NONHSAT089479
14	lnc-KLHL18-1	chr3:47205860-47206087	NONHSAT089478
15	lnc-KLHL18-1	chr3:47210659-47211101	XLOC_002636
16	lnc-KLHL18-1	chr3:47210659-47210886	NONHSAT089478
17	lnc-SETD2-1	chr3:47210659-47210743	NONHSAT089481
18	lnc-NBEAL2-2	chr3:47248261-47248357	refGeneNc_4033_NR_033373
19	lnc-KLHL18-1	chr3:47210659-47210886	ENSG00000227398
20	lnc-NBEAL2-2	chr3:47252551-47252653	refGeneNc_4033_NR_033373
21	lnc-NBEAL2-2	chr3:47190262-47190757	l_2362_chr3:47180551-47192368_testes
22	lnc-KLHL18-1	chr3:47210659-47210886	ENSG00000227398.3
23	lnc-KLHL18-1	chr3:47210139-47219924	NONHSAT089480
24	lnc-NBEAL2-2	chr3:47254898-47255063	refGeneNc_4033_NR_033373
25	lnc-KLHL18-1	chr3:47205720-47206087	XLOC_002636
26	lnc-KLHL18-1	chr3:47206614-47206657	XLOC_002636

No data

Variant related genes	Relation type
SETD2	TF binding region
KIF9-AS1	TF binding region
SETD2	CpG island
KIF9-AS1	CpG island
ENSG00000088727	chromatin interactions
ENSG00000260236	chromatin interactions
ENSG00000227398	chromatin interactions
ENSG00000160796	chromatin interactions
ENSG00000114648	chromatin interactions
ENSG00000076201	chromatin interactions
ENSG00000164327	chromatin interactions
ENSG00000181555	chromatin interactions
C2orf29	miRNA target sites
MRPL37	miRNA target sites
FBXL5	miRNA target sites
FAM65C	miRNA target sites
KIAA1671	miRNA target sites

Extended variants
information (count: 2023 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2023 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566035618	chr3:47189508-47189509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559234699	chr3:47189519-47189520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574630706	chr3:47189582-47189583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111714919	chr3:47189584-47189585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541484981	chr3:47189589-47189590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368439366	chr3:47189601-47189602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76219817	chr3:47189630-47189631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376478893	chr3:47189633-47189634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140284757	chr3:47189675-47189676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530555323	chr3:47189681-47189682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145282611	chr3:47189682-47189683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183066242	chr3:47189683-47189684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528687537	chr3:47189695-47189696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547173388	chr3:47189707-47189708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187834368	chr3:47189748-47189749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536116305	chr3:47189761-47189762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191933438	chr3:47189781-47189782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372043264	chr3:47189836-47189837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150925382	chr3:47189864-47189865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140894249	chr3:47189890-47189891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572963392	chr3:47190026-47190027	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs534513689	chr3:47190035-47190036	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs552722801	chr3:47190037-47190038	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs150157904	chr3:47190094-47190095	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs538310859	chr3:47190143-47190144	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs542092739	chr3:47190197-47190198	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs182993350	chr3:47190210-47190211	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs6809110	chr3:47190220-47190221	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545960711	chr3:47190247-47190248	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs564179362	chr3:47190254-47190255	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs187893737	chr3:47190279-47190280	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs193004164	chr3:47190290-47190291	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs562273195	chr3:47190294-47190295	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs115392774	chr3:47190316-47190317	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs56183241	chr3:47190320-47190321	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs551231591	chr3:47190328-47190329	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs569199418	chr3:47190371-47190372	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs539460566	chr3:47190381-47190382	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs551317906	chr3:47190413-47190414	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs566648321	chr3:47190420-47190421	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs533997775	chr3:47190432-47190433	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs138593237	chr3:47190433-47190434	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs79340728	chr3:47190442-47190443	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs568225686	chr3:47190470-47190471	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs184308851	chr3:47190500-47190501	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs187708589	chr3:47190505-47190506	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs554871050	chr3:47190508-47190509	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs373367475	chr3:47190519-47190520	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs554316503	chr3:47190661-47190662	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs141281585	chr3:47190664-47190665	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1515 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47165800-47191000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:47165800-47197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:47166000-47200800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:47166000-47201200	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:47166000-47204600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:47166200-47197200	Weak transcription	Aorta	Aorta
7	chr3:47166200-47200600	Weak transcription	Hela-S3	cervix
8	chr3:47166400-47194200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:47166600-47204200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:47167400-47202400	Weak transcription	HSMM	muscle
11	chr3:47167800-47195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:47173600-47191000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:47175800-47200400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:47176400-47190800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:47177800-47194200	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:47178000-47190800	Weak transcription	Right Ventricle	heart
17	chr3:47178000-47194200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:47178600-47190600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:47181000-47193600	Weak transcription	Fetal Heart	heart
20	chr3:47182000-47190600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:47182000-47192600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr3:47182000-47195400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:47182600-47190800	Weak transcription	Small Intestine	intestine
24	chr3:47182600-47200800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:47182800-47191000	Weak transcription	Pancreas	Pancrea
26	chr3:47182800-47192000	Weak transcription	Stomach Mucosa	stomach
27	chr3:47182800-47198200	Weak transcription	Primary B cells from cord blood	blood
28	chr3:47183600-47192000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:47183600-47193800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:47183600-47200800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:47183600-47202200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:47183800-47190600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:47183800-47191000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:47183800-47191000	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:47183800-47193800	Weak transcription	Primary T cells from cord blood	blood
36	chr3:47183800-47194000	Weak transcription	Dnd41	blood
37	chr3:47183800-47194200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:47183800-47194400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:47183800-47198000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:47183800-47202200	Weak transcription	NHEK	skin
41	chr3:47183800-47203000	Weak transcription	Colonic Mucosa	Colon
42	chr3:47184000-47194200	Weak transcription	Spleen	Spleen
43	chr3:47184000-47197000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:47184400-47198400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:47184600-47192200	Weak transcription	Fetal Intestine Large	intestine
46	chr3:47184600-47194200	Weak transcription	Fetal Thymus	thymus
47	chr3:47184600-47194200	Weak transcription	Psoas Muscle	Psoas
48	chr3:47184600-47198000	Weak transcription	Thymus	Thymus
49	chr3:47184600-47202200	Weak transcription	Esophagus	oesophagus
50	chr3:47184800-47194000	Weak transcription	Ovary	ovary

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