Variant report

Variant	nsv1024002
Chromosome Location	chr4:188481699-188837872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1103)
CpG islands
(count:1404)
Chromatin interactive
region (count:11)
LncRNA
region (count:57)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1103 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:188527707-188527965	HepG2	liver:	n/a	n/a
2	ATF1	chr4:188735920-188736251	K562	blood:	n/a	n/a
3	ATF1	chr4:188538300-188538599	K562	blood:	n/a	n/a
4	ATF3	chr4:188527774-188527903	K562	blood:	n/a	n/a
5	BHLHE40	chr4:188534744-188534930	K562	blood:	n/a	n/a
6	BHLHE40	chr4:188519650-188519830	GM12878	blood:	n/a	n/a
7	BHLHE40	chr4:188527838-188527964	K562	blood:	n/a	n/a
8	BHLHE40	chr4:188538740-188538867	K562	blood:	n/a	n/a
9	BHLHE40	chr4:188533400-188533687	K562	blood:	n/a	n/a
10	BRCA1	chr4:188570315-188570361	GM12878	blood:	n/a	n/a
11	CBX3	chr4:188507537-188508612	HCT-116	colon:	n/a	n/a
12	CBX3	chr4:188660869-188661415	HCT-116	colon:	n/a	n/a
13	CBX3	chr4:188665981-188666555	HCT-116	colon:	n/a	n/a
14	CEBPB	chr4:188538148-188538851	HCT-116	colon:	n/a	chr4:188538447-188538458 chr4:188538481-188538492
15	CEBPB	chr4:188572787-188573018	HepG2	liver:	n/a	chr4:188572900-188572911
16	CEBPB	chr4:188529058-188529739	IMR90	lung:	n/a	n/a
17	CEBPB	chr4:188539916-188540476	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr4:188570725-188570925	K562	blood:	n/a	chr4:188570868-188570879
19	CEBPB	chr4:188735851-188736097	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr4:188570202-188570305	HepG2	liver:	n/a	n/a
21	CEBPB	chr4:188540074-188540575	A549	lung:	n/a	n/a
22	CEBPB	chr4:188569034-188569253	A549	lung:	n/a	chr4:188569144-188569155
23	CEBPB	chr4:188570719-188571283	HepG2	liver:	n/a	chr4:188570868-188570879
24	CEBPB	chr4:188517595-188517873	IMR90	lung:	n/a	chr4:188517748-188517759
25	CEBPB	chr4:188552350-188552627	HepG2	liver:	n/a	n/a
26	CEBPB	chr4:188591052-188591273	IMR90	lung:	n/a	n/a
27	CEBPB	chr4:188735841-188736022	K562	blood:	n/a	n/a
28	CEBPB	chr4:188735771-188736121	A549	lung:	n/a	n/a
29	CEBPB	chr4:188578046-188578537	IMR90	lung:	n/a	chr4:188578218-188578229
30	CEBPB	chr4:188829199-188829608	IMR90	lung:	n/a	n/a
31	CEBPB	chr4:188539805-188540519	IMR90	lung:	n/a	n/a
32	CEBPB	chr4:188520966-188521237	HepG2	liver:	n/a	chr4:188521110-188521121
33	CEBPB	chr4:188632833-188633099	H1-hESC	embryonic stem cell:	n/a	chr4:188632937-188632948
34	CEBPB	chr4:188587766-188588125	IMR90	lung:	n/a	chr4:188587944-188587955
35	CEBPB	chr4:188538338-188538515	K562	blood:	n/a	chr4:188538447-188538458 chr4:188538481-188538492
36	CEBPB	chr4:188632788-188633066	K562	blood:	n/a	chr4:188632937-188632948
37	CEBPB	chr4:188632802-188633082	A549	lung:	n/a	chr4:188632937-188632948
38	CEBPB	chr4:188540170-188540484	A549	lung:	n/a	n/a
39	CEBPB	chr4:188574591-188574791	HepG2	liver:	n/a	chr4:188574678-188574689 chr4:188574677-188574690
40	CEBPB	chr4:188752270-188752506	HepG2	liver:	n/a	chr4:188752367-188752378
41	CEBPB	chr4:188735766-188736151	K562	blood:	n/a	n/a
42	CEBPB	chr4:188538294-188538645	K562	blood:	n/a	chr4:188538447-188538458 chr4:188538481-188538492
43	CEBPB	chr4:188509334-188509409	HepG2	liver:	n/a	chr4:188509373-188509384
44	CEBPB	chr4:188529114-188529530	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr4:188524161-188524444	IMR90	lung:	n/a	n/a
46	CEBPB	chr4:188690622-188690921	IMR90	lung:	n/a	chr4:188690750-188690761
47	CEBPB	chr4:188690662-188690861	H1-hESC	embryonic stem cell:	n/a	chr4:188690750-188690761
48	CEBPB	chr4:188735860-188736134	MCF-7	breast:	n/a	n/a
49	CEBPB	chr4:188600607-188601013	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr4:188538086-188538843	HCT-116	colon:	n/a	chr4:188538447-188538458 chr4:188538481-188538492

(count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:188686763-188686813	HepG2	liver:	n/a
2	chr4:188686763-188686813	HepG2	liver:	n/a
3	chr4:188577176-188577226	K562	blood:	n/a
4	chr4:188534912-188534962	HL-60	blood:	n/a
5	chr4:188686726-188686776	K562	blood:	n/a
6	chr4:188736336-188736386	AG09309	skin:	n/a
7	chr4:188829287-188829337	AG09319	gingival:	n/a
8	chr4:188534873-188534923	HCT-116	colon:	n/a
9	chr4:188533158-188533208	GM12891	blood:	n/a
10	chr4:188528319-188528369	Jurkat	blood:	n/a
11	chr4:188736336-188736386	AoSMC	blood vessel:	n/a
12	chr4:188736112-188736162	GM12878	blood:	n/a
13	chr4:188686763-188686813	HRE	kidney:	n/a
14	chr4:188530842-188530892	Hepatocyte	liver:	n/a
15	chr4:188534448-188534498	NT2-D1	testis:	n/a
16	chr4:188736112-188736162	MCF10A-Er-Src	breast:	n/a
17	chr4:188736112-188736162	GM12892	blood:	n/a
18	chr4:188577176-188577226	HIPEpiC	eye:	n/a
19	chr4:188528319-188528369	LNCaP	prostate:	n/a
20	chr4:188686763-188686813	PANC-1	pancreas:	n/a
21	chr4:188534693-188534743	HRPEpiC	eye:	n/a
22	chr4:188588839-188588889	AG04450	lung:	fetal
23	chr4:188736172-188736222	U87	brain:	n/a
24	chr4:188829287-188829337	HEEpiC	esophagus:	n/a
25	chr4:188539183-188539233	BE2_C	brain:	n/a
26	chr4:188824073-188824123	GM06990	blood:	n/a
27	chr4:188539183-188539233	HCPEpiC	choroid plexus:	n/a
28	chr4:188686763-188686813	ovcar-3	ovarian:	n/a
29	chr4:188533158-188533208	HCM	heart:	n/a
30	chr4:188533158-188533208	AG04450	lung:	fetal
31	chr4:188534873-188534923	AG09309	skin:	n/a
32	chr4:188686664-188686714	GM12878	blood:	n/a
33	chr4:188588839-188588889	SK-N-MC	brain:	n/a
34	chr4:188686763-188686813	CMK	blood:	n/a
35	chr4:188534509-188534559	PFSK-1	brain:	n/a
36	chr4:188534693-188534743	GM06990	blood:	n/a
37	chr4:188588839-188588889	PFSK-1	brain:	n/a
38	chr4:188534509-188534559	HRCEpiC	kidney:	n/a
39	chr4:188829287-188829337	SK-N-SH	brain:	n/a
40	chr4:188554583-188554633	A549	lung:	n/a
41	chr4:188686726-188686776	AG09309	skin:	n/a
42	chr4:188534912-188534962	HAEpiC	amniotic membrane:	n/a
43	chr4:188534776-188534826	MCF-7	breast:	n/a
44	chr4:188539183-188539233	U87	brain:	n/a
45	chr4:188686664-188686714	PFSK-1	brain:	n/a
46	chr4:188534693-188534743	HCPEpiC	choroid plexus:	n/a
47	chr4:188700879-188700929	SK-N-MC	brain:	n/a
48	chr4:188534448-188534498	GM06990	blood:	n/a
49	chr4:188686763-188686813	GM12892	blood:	n/a
50	chr4:188528319-188528369	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:188527128..188528286-chr4:189293970..189294660,4	MCF-7	breast:
2	chr1:149223042..149224634-chr4:188652998..188654518,2	MCF-7	breast:
3	chr4:188527681..188530400-chr4:188530916..188532601,2	K562	blood:
4	chr4:188587219..188588049-chr4:189293834..189294448,2	MCF-7	breast:
5	chr4:188638802..188641142-chr4:188661839..188664453,2	K562	blood:
6	chr4:188527681..188530400-chr4:188530916..188532601,2	K562	blood:
7	chr1:149223786..149225310-chr4:188651498..188652998,2	MCF-7	breast:
8	chr1:149223776..149224611-chr4:188652518..188653518,3	MCF-7	breast:
9	chr1:149223872..149224384-chr4:188652498..188652998,2	MCF-7	breast:
10	chr4:188638802..188641142-chr4:188661839..188664453,2	K562	blood:
11	chr4:188807826..188808346-chr6:74078319..74078839,2	MCF-7	breast:

(count:57 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIML2-4	chr4:188567364-188567526	NONHSAT099704
2	lnc-ZFP42-2	chr4:188635490-188635540	NONHSAT099719
3	lnc-ZFP42-2	chr4:188632898-188633228	XLOC_003829
4	lnc-ZFP42-2	chr4:188626207-188626577	NONHSAT099720
5	lnc-ZFP42-2	chr4:188571621-188571815	XLOC_003829
6	lnc-ZFP42-2	chr4:188534919-188535153	XLOC_003829
7	lnc-ZFP42-8	chr4:188790795-188791294	l_2822_chr4:188790794-188818331_testes
8	lnc-ZFP42-2	chr4:188632898-188633111	NONHSAT099719
9	lnc-ZFP42-2	chr4:188553805-188553988	XLOC_003829
10	lnc-ZFP42-2	chr4:188626502-188626577	XLOC_003829
11	lnc-ZFP42-1	chr4:188789601-188789707	XLOC_003831
12	lnc-ZFP42-2	chr4:188543796-188543894	XLOC_003829
13	lnc-TRIML2-4	chr4:188513797-188514081	NONHSAT099706
14	lnc-ZFP42-10	chr4:188501769-188501890	NONHSAT099705
15	lnc-TRIML2-4	chr4:188514038-188514081	ENSG00000250590
16	lnc-ZFP42-2	chr4:188581291-188581523	XLOC_003829
17	lnc-ZFP42-10	chr4:188493477-188493987	NONHSAT099705
18	lnc-TRIML2-9	chr4:188771044-188771493	l_2820_chr4:188691027-188804581_testes
19	lnc-TRIML2-9	chr4:188716229-188716412	l_2820_chr4:188691027-188804581_testes
20	lnc-TRIML2-4	chr4:188567364-188567526	NONHSAT099706
21	lnc-TRIML2-4	chr4:188593716-188593795	ENSG00000250590
22	lnc-ZFP42-1	chr4:188735822-188736272	NONHSAT099722
23	lnc-ZFP42-2	chr4:188632898-188633273	NONHSAT099720
24	lnc-TRIML2-4	chr4:188586916-188586992	ENSG00000250590
25	lnc-ZFP42-2	chr4:188581291-188581521	XLOC_003829
26	lnc-ZFP42-2	chr4:188534800-188535153	XLOC_003829
27	lnc-ZFP42-2	chr4:188626129-188626577	NONHSAT099717
28	lnc-TRIML2-4	chr4:188513897-188514081	NONHSAT099704
29	lnc-ZFP42-1	chr4:188789600-188789707	NONHSAT099722
30	lnc-ZFP42-2	chr4:188626118-188626433	XLOC_003829
31	lnc-ZFP42-2	chr4:188571727-188571815	XLOC_003829
32	lnc-ZFP42-2	chr4:188543796-188543871	XLOC_003829
33	lnc-ZFP42-2	chr4:188626118-188626433	XLOC_003829
34	lnc-TRIML2-9	chr4:188804358-188804581	l_2820_chr4:188691027-188804581_testes
35	lnc-ZFP42-2	chr4:188542831-188543333	XLOC_003829
36	lnc-TRIML2-11	chr4:188535229-188535272	l_2818_chr4:188532414-188535272_placenta
37	lnc-TRIML2-9	chr4:188771634-188772347	l_2820_chr4:188691027-188804581_testes
38	lnc-TRIML2-11	chr4:188532415-188533775	l_2818_chr4:188532414-188535272_placenta
39	lnc-ZFP42-8	chr4:188808721-188808809	l_2822_chr4:188790794-188818331_testes
40	lnc-TRIML2-9	chr4:188691028-188691351	l_2820_chr4:188691027-188804581_testes
41	lnc-TRIML2-3	chr4:188534640-188534713	XLOC_004221
42	lnc-TRIML2-3	chr4:188534050-188534499	XLOC_004221
43	lnc-ZFP42-2	chr4:188581291-188581337	XLOC_003829
44	lnc-ZFP42-9	chr4:188771634-188772147	l_2821_chr4:188771633-188780051_testes
45	lnc-TRIML2-4	chr4:188593716-188593795	NR_110436
46	lnc-ZFP42-2	chr4:188554100-188554300	XLOC_003829
47	lnc-ZFP42-2	chr4:188626118-188626433	XLOC_003829
48	lnc-ZFP42-9	chr4:188779825-188780051	l_2821_chr4:188771633-188780051_testes
49	lnc-ZFP42-2	chr4:188553703-188553988	XLOC_003829
50	lnc-ZFP42-1	chr4:188735823-188736246	XLOC_003831

No data

Variant related genes	Relation type
ADAM20P3	TF binding region
ENSG00000249642	TF binding region
ENSG00000250590	TF binding region
ADAM20P3	CpG island
ENSG00000249642	CpG island
ENSG00000250590	CpG island
ENSG00000206737	chromatin interactions
TAGLN2	miRNA target sites
NDP	miRNA target sites
TIMP3	miRNA target sites
MED20	miRNA target sites
FSCN1	miRNA target sites
CDC42	miRNA target sites
KLF12	miRNA target sites
PHF6	miRNA target sites
KIF13B	miRNA target sites
MCL1	miRNA target sites

Extended variants
information (count: 5364 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:5364 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549673710	chr4:188481791-188481792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569567865	chr4:188481792-188481793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561290598	chr4:188481805-188481806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535386226	chr4:188481844-188481845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549203026	chr4:188481877-188481878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576358518	chr4:188481902-188481903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543939041	chr4:188481921-188481922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186855294	chr4:188481958-188481959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377018439	chr4:188482068-188482069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74808895	chr4:188482085-188482086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192006516	chr4:188482104-188482105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184173859	chr4:188482187-188482188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371013055	chr4:188482244-188482245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576713606	chr4:188482246-188482247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368429668	chr4:188482248-188482249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562334091	chr4:188482256-188482257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565024204	chr4:188482257-188482258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572517829	chr4:188482259-188482260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540744212	chr4:188482267-188482268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376121821	chr4:188482269-188482270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549413653	chr4:188482273-188482274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11942057	chr4:188482275-188482276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7675860	chr4:188482278-188482279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529224181	chr4:188482279-188482280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548986353	chr4:188482280-188482281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565890275	chr4:188482281-188482282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7698015	chr4:188482287-188482288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7697515	chr4:188482299-188482300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571002053	chr4:188482305-188482306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372210249	chr4:188482317-188482318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182274156	chr4:188482318-188482319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576335926	chr4:188482319-188482320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536167301	chr4:188482322-188482323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7697535	chr4:188482345-188482346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7697733	chr4:188482356-188482357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537424927	chr4:188482362-188482363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187210927	chr4:188482363-188482364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112358680	chr4:188482367-188482368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549873268	chr4:188482369-188482370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563326716	chr4:188482372-188482373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111889174	chr4:188482373-188482374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542915931	chr4:188482378-188482379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368865676	chr4:188482385-188482386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10021060	chr4:188482408-188482409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs373046427	chr4:188482409-188482410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551640555	chr4:188482413-188482414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113953779	chr4:188482420-188482421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533493523	chr4:188482440-188482441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549977239	chr4:188482453-188482454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184806632	chr4:188482461-188482462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Autism	20808228	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:188480600-188481800	Enhancers	Fetal Heart	heart
2	chr4:188481800-188482800	Weak transcription	Fetal Heart	heart
3	chr4:188482800-188485000	Enhancers	Fetal Heart	heart
4	chr4:188486600-188487000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:188492200-188492600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:188493600-188493800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:188499400-188499600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
8	chr4:188499400-188500400	Enhancers	NHDF-Ad	bronchial
9	chr4:188502000-188502200	Bivalent/Poised TSS	Liver	Liver
10	chr4:188507600-188508400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:188507800-188508400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:188519000-188520000	Enhancers	NHDF-Ad	bronchial
13	chr4:188519200-188519600	Enhancers	HSMMtube	muscle
14	chr4:188519200-188520000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:188519600-188520000	Enhancers	HSMM	muscle
16	chr4:188519600-188520000	Enhancers	Osteobl	bone
17	chr4:188519600-188523600	Weak transcription	HSMMtube	muscle
18	chr4:188520000-188522600	Weak transcription	HSMM	muscle
19	chr4:188520000-188522800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:188520000-188522800	Weak transcription	NHDF-Ad	bronchial
21	chr4:188520000-188523200	Weak transcription	Osteobl	bone
22	chr4:188522600-188523200	Enhancers	NH-A	brain
23	chr4:188522600-188523600	Enhancers	HSMM	muscle
24	chr4:188522800-188523200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:188522800-188523200	Enhancers	NHDF-Ad	bronchial
26	chr4:188522800-188523600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:188522800-188523600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:188522800-188523600	Enhancers	HUVEC	blood vessel
29	chr4:188522800-188523600	Enhancers	NHLF	lung
30	chr4:188522800-188523800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:188523000-188524000	Enhancers	Fetal Lung	lung
32	chr4:188523000-188524800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:188523000-188525000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:188523000-188525000	Enhancers	NHEK	skin
35	chr4:188523200-188523600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:188523200-188523600	Enhancers	Osteobl	bone
37	chr4:188523200-188524200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr4:188523200-188524200	Flanking Active TSS	NH-A	brain
39	chr4:188523200-188524200	Flanking Active TSS	NHDF-Ad	bronchial
40	chr4:188523200-188524600	Enhancers	Adipose Nuclei	Adipose
41	chr4:188523200-188524800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:188523200-188524800	Enhancers	HMEC	breast
43	chr4:188523400-188523600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:188523400-188524600	Enhancers	A549	lung
45	chr4:188523600-188524000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:188523600-188524000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:188523600-188524000	Enhancers	Psoas Muscle	Psoas
48	chr4:188523600-188524000	Flanking Active TSS	HSMM	muscle
49	chr4:188523600-188524000	Flanking Active TSS	HSMMtube	muscle
50	chr4:188523600-188524000	Flanking Active TSS	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links