Variant report

Variant	nsv962022
Chromosome Location	chr2:133046658-133110808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1307)
CpG islands
(count:976)
Chromatin interactive
region (count:28)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1307 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:133104731-133105317	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:133054449-133054600	K562	blood:	n/a	n/a
3	ARID3A	chr2:133094781-133094937	K562	blood:	n/a	n/a
4	ARID3A	chr2:133106714-133106906	K562	blood:	n/a	n/a
5	ARID3A	chr2:133104760-133104980	K562	blood:	n/a	n/a
6	ATF1	chr2:133062156-133062328	K562	blood:	n/a	n/a
7	ATF1	chr2:133094721-133095082	K562	blood:	n/a	n/a
8	ATF1	chr2:133104740-133105152	K562	blood:	n/a	n/a
9	ATF1	chr2:133076152-133076243	K562	blood:	n/a	n/a
10	ATF3	chr2:133062218-133062459	K562	blood:	n/a	n/a
11	ATF3	chr2:133110083-133110524	A549	lung:	n/a	n/a
12	ATF3	chr2:133094797-133095064	K562	blood:	n/a	n/a
13	BACH1	chr2:133094866-133095024	K562	blood:	n/a	n/a
14	BACH1	chr2:133095514-133095827	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr2:133095528-133095811	K562	blood:	n/a	n/a
16	BHLHE40	chr2:133062328-133062360	K562	blood:	n/a	n/a
17	BHLHE40	chr2:133046472-133046891	HepG2	liver:	n/a	n/a
18	BHLHE40	chr2:133090083-133090281	K562	blood:	n/a	n/a
19	BHLHE40	chr2:133106805-133106889	K562	blood:	n/a	n/a
20	BHLHE40	chr2:133110217-133110224	K562	blood:	n/a	n/a
21	BHLHE40	chr2:133104680-133105281	K562	blood:	n/a	n/a
22	BRCA1	chr2:133110245-133110300	HepG2	liver:	n/a	n/a
23	BRCA1	chr2:133104723-133105160	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr2:133102792-133102794	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr2:133104602-133105322	HepG2	liver:	n/a	n/a
26	BRCA1	chr2:133110120-133110207	H1-hESC	embryonic stem cell:	n/a	n/a
27	CBX3	chr2:133104565-133105347	K562	blood:	n/a	n/a
28	CBX3	chr2:133089721-133090145	K562	blood:	n/a	n/a
29	CBX3	chr2:133094476-133095161	K562	blood:	n/a	n/a
30	CBX3	chr2:133095481-133095863	K562	blood:	n/a	n/a
31	CBX3	chr2:133089877-133090403	K562	blood:	n/a	n/a
32	CEBPB	chr2:133090548-133090667	K562	blood:	n/a	n/a
33	CEBPB	chr2:133101052-133101359	A549	lung:	n/a	chr2:133101212-133101223
34	CEBPB	chr2:133074232-133074382	IMR90	lung:	n/a	chr2:133074302-133074313
35	CEBPB	chr2:133046761-133046791	HepG2	liver:	n/a	chr2:133046778-133046789 chr2:133046778-133046791
36	CEBPB	chr2:133101066-133101355	IMR90	lung:	n/a	chr2:133101212-133101223
37	CEBPB	chr2:133104873-133105065	K562	blood:	n/a	n/a
38	CEBPB	chr2:133090482-133090744	HepG2	liver:	n/a	n/a
39	CEBPB	chr2:133062149-133062536	A549	lung:	n/a	n/a
40	CEBPB	chr2:133074160-133074412	A549	lung:	n/a	chr2:133074302-133074313
41	CEBPB	chr2:133062211-133062392	HepG2	liver:	n/a	n/a
42	CEBPB	chr2:133102834-133103056	HepG2	liver:	n/a	chr2:133102953-133102964
43	CEBPB	chr2:133062159-133062521	HepG2	liver:	n/a	n/a
44	CEBPB	chr2:133062082-133062599	A549	lung:	n/a	n/a
45	CEBPB	chr2:133062114-133062539	K562	blood:	n/a	n/a
46	CEBPB	chr2:133074139-133074468	Hela-S3	cervix:	n/a	chr2:133074302-133074313
47	CEBPB	chr2:133090604-133090679	IMR90	lung:	n/a	n/a
48	CEBPB	chr2:133102874-133103106	Hela-S3	cervix:	n/a	chr2:133102953-133102964
49	CEBPB	chr2:133074179-133074481	MCF-7	breast:	n/a	chr2:133074302-133074313
50	CEBPB	chr2:133065409-133065625	Hela-S3	cervix:	n/a	n/a

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:133104748-133104798	RPTEC	kidney:	n/a
2	chr2:133062041-133062091	NB4	blood:	n/a
3	chr2:133062041-133062091	SK-N-MC	brain:	n/a
4	chr2:133090122-133090172	H1-hESC	embryonic stem cell:	embryo
5	chr2:133066472-133066522	HCF	heart:	n/a
6	chr2:133110427-133110477	ovcar-3	ovarian:	n/a
7	chr2:133066472-133066522	AG04449	skin:	fetal
8	chr2:133104982-133105032	Caco-2	colon:	n/a
9	chr2:133090347-133090397	HRPEpiC	eye:	n/a
10	chr2:133105420-133105470	ProgFib	skin:	n/a
11	chr2:133062284-133062334	NHDF-neo	bronchial:	n/a
12	chr2:133062405-133062455	HIPEpiC	eye:	n/a
13	chr2:133107039-133107089	CMK	blood:	n/a
14	chr2:133062155-133062205	U87	brain:	n/a
15	chr2:133104748-133104798	HRCEpiC	kidney:	n/a
16	chr2:133090347-133090397	ovcar-3	ovarian:	n/a
17	chr2:133105420-133105470	MCF10A-Er-Src	breast:	n/a
18	chr2:133090122-133090172	HCF	heart:	n/a
19	chr2:133062300-133062350	K562	blood:	n/a
20	chr2:133062300-133062350	Caco-2	colon:	n/a
21	chr2:133062041-133062091	HCPEpiC	choroid plexus:	n/a
22	chr2:133090251-133090301	HMEC	breast:	n/a
23	chr2:133105045-133105095	NT2-D1	testis:	n/a
24	chr2:133105420-133105470	BJ	skin:	n/a
25	chr2:133062300-133062350	AoSMC	blood vessel:	n/a
26	chr2:133090251-133090301	HCF	heart:	n/a
27	chr2:133062155-133062205	AG04450	lung:	fetal
28	chr2:133090347-133090397	HRE	kidney:	n/a
29	chr2:133104982-133105032	ProgFib	skin:	n/a
30	chr2:133107039-133107089	SKMC	muscle:	n/a
31	chr2:133105045-133105095	Caco-2	colon:	n/a
32	chr2:133090251-133090301	T-47D	breast:	n/a
33	chr2:133107039-133107089	HNPCEpiC	eye:	n/a
34	chr2:133062405-133062455	HCT-116	colon:	n/a
35	chr2:133105420-133105470	AoSMC	blood vessel:	n/a
36	chr2:133062405-133062455	AG04450	lung:	fetal
37	chr2:133105420-133105470	HRCEpiC	kidney:	n/a
38	chr2:133066472-133066522	LNCaP	prostate:	n/a
39	chr2:133062284-133062334	GM12878	blood:	n/a
40	chr2:133105420-133105470	NHDF-neo	bronchial:	n/a
41	chr2:133090122-133090172	SK-N-SH	brain:	n/a
42	chr2:133106819-133106869	MCF10A-Er-Src	breast:	n/a
43	chr2:133062155-133062205	LNCaP	prostate:	n/a
44	chr2:133062155-133062205	HAEpiC	amniotic membrane:	n/a
45	chr2:133107039-133107089	BE2_C	brain:	n/a
46	chr2:133104982-133105032	T-47D	breast:	n/a
47	chr2:133062155-133062205	HIPEpiC	eye:	n/a
48	chr2:133106819-133106869	HUVEC	blood vessel:	n/a
49	chr2:133062284-133062334	AG09319	gingival:	n/a
50	chr2:133110427-133110477	A549	lung:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:133104482..133106618-chr2:133108927..133110502,2	MCF-7	breast:
2	chr2:133057287..133057807-chr2:154964913..154965433,2	MCF-7	breast:
3	chr19:44860583..44861870-chr2:133104308..133105302,7	Hela-S3	cervix:
4	chr2:133108915..133111457-chr2:133172343..133174834,3	MCF-7	breast:
5	chr2:133106208..133106974-chr2:133928762..133929385,2	MCF-7	breast:
6	chr2:133109798..133110355-chr20:29611407..29612129,2	MCF-7	breast:
7	chr2:133110121..133110687-chr8:43101237..43102219,2	MCF-7	breast:
8	chr19:44859654..44861763-chr2:133102344..133104670,2	K562	blood:
9	chr19:44870383..44873063-chr2:133091902..133095007,3	MCF-7	breast:
10	chr2:133106377..133107304-chr20:29611507..29612208,2	MCF-7	breast:
11	chr19:44858590..44859395-chr2:133106608..133107319,5	MCF-7	breast:
12	chr19:44895650..44897507-chr2:133068550..133071124,2	MCF-7	breast:
13	chr19:44858569..44859729-chr2:133105937..133107575,6	MCF-7	breast:
14	chr19:44859033..44861169-chr2:133104533..133106354,2	K562	blood:
15	chr2:133106413..133107377-chr2:133181739..133182675,3	MCF-7	breast:
16	chr2:133104869..133106905-chr2:133107987..133110603,2	K562	blood:
17	chr2:133104482..133106618-chr2:133108927..133110502,2	MCF-7	breast:
18	chr19:44860567..44861162-chr2:133104579..133105358,2	MCF-7	breast:
19	chr19:44858582..44859085-chr2:133106403..133107293,2	K562	blood:
20	chr2:133104869..133106905-chr2:133107987..133110603,2	K562	blood:
21	chr19:44860226..44861181-chr2:133104577..133105347,5	HCT-116	colon:
22	chr2:133026098..133026689-chr2:133106836..133107370,2	MCF-7	breast:
23	chr2:133106447..133107306-chr2:133173079..133174146,3	MCF-7	breast:
24	chr2:133095694..133097559-chr2:133103404..133105244,2	MCF-7	breast:
25	chr2:133106605..133107151-chr2:133206153..133207006,2	MCF-7	breast:
26	chr2:133106241..133106888-chr2:134318328..134318856,2	K562	blood:
27	chr19:44869272..44873235-chr2:133093559..133096600,6	K562	blood:
28	chr2:133108792..133112199-chr2:133172607..133174892,3	MCF-7	breast:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR39-2	chr2:133094769-133095390	NONHSAT074526
2	lnc-ANKRD30BL-7	chr2:133103189-133104870	ENSG00000272769.1
3	lnc-GPR39-2	chr2:133095000-133095041	NONHSAT074530
4	lnc-GPR39-2	chr2:133092596-133092734	NONHSAT074526
5	lnc-GPR39-2	chr2:133095945-133096187	XLOC_001680
6	lnc-GPR39-2	chr2:133095945-133096187	XLOC_001680
7	lnc-GPR39-2	chr2:133094897-133095041	XLOC_001680
8	lnc-GPR39-2	chr2:133095158-133095288	NONHSAT074530
9	lnc-GPR39-2	chr2:133094931-133095041	NONHSAT074528
10	lnc-GPR39-2	chr2:133095945-133096184	NONHSAT074528
11	lnc-GPR39-2	chr2:133095945-133096187	XLOC_001680
12	lnc-GPR39-2	chr2:133095052-133095288	XLOC_001680
13	lnc-GPR39-2	chr2:133095580-133095736	NONHSAT074528
14	lnc-GPR39-2	chr2:133095697-133095736	XLOC_001680
15	lnc-GPR39-2	chr2:133095052-133095288	XLOC_001680
16	lnc-GPR39-2	chr2:133092597-133092734	XLOC_001680
17	lnc-GPR39-2	chr2:133095435-133096235	NONHSAT074526
18	lnc-GPR39-2	chr2:133095945-133096184	NONHSAT074530
19	lnc-GPR39-2	chr2:133095945-133096192	XLOC_001680
20	lnc-GPR39-2	chr2:133094559-133094792	NONHSAT074528
21	lnc-GPR39-2	chr2:133094931-133095041	XLOC_001680
22	lnc-GPR39-2	chr2:133095580-133095608	XLOC_001680
23	lnc-ANKRD30BL-1	chr2:133051891-133051950	XLOC_002329

No data

Variant related genes	Relation type
ENSG00000272769	TF binding region
ENSG00000230803	TF binding region
ZNF806	TF binding region
FAM201B	TF binding region
ENSG00000272769	CpG island
ENSG00000230803	CpG island
ZNF806	CpG island
FAM201B	CpG island
ENSG00000149531	chromatin interactions
ENSG00000230992	chromatin interactions
ENSG00000253884	chromatin interactions
ENSG00000062370	chromatin interactions
ENSG00000183840	chromatin interactions
ENSG00000272769	chromatin interactions
TNPO1	miRNA target sites
TNKS1BP1	miRNA target sites
FAM49B	miRNA target sites
EXOC5	miRNA target sites

Extended variants
information (count: 2870 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2870 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200612803	chr2:133046679-133046680	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs80255590	chr2:133046725-133046726	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs34920334	chr2:133046727-133046728	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs569483056	chr2:133046740-133046741	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs3952957	chr2:133046742-133046743	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs3952956	chr2:133046748-133046749	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs556362764	chr2:133046762-133046763	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs4954290	chr2:133046772-133046773	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs113702187	chr2:133046776-133046777	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs10179109	chr2:133046801-133046802	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs553428849	chr2:133046807-133046808	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs10176619	chr2:133046817-133046818	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs542470987	chr2:133046858-133046859	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs62163853	chr2:133046885-133046886	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs62163854	chr2:133046890-133046891	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs563894796	chr2:133046896-133046897	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs200891947	chr2:133046914-133046915	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs575872629	chr2:133046958-133046959	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs377138211	chr2:133046966-133046967	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs73955428	chr2:133046967-133046968	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs113316334	chr2:133046968-133046969	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs73955429	chr2:133046969-133046970	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs545990842	chr2:133046975-133046976	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs10176753	chr2:133046981-133046982	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs528525947	chr2:133046997-133046998	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs546965158	chr2:133047006-133047007	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs72987881	chr2:133047012-133047013	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs72483740	chr2:133047036-133047037	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs548045671	chr2:133047052-133047053	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs72483741	chr2:133047067-133047068	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs139986170	chr2:133047095-133047096	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs77271821	chr2:133047097-133047098	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs79043474	chr2:133047126-133047127	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs530570129	chr2:133047134-133047135	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs113469135	chr2:133047141-133047142	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs73955432	chr2:133047144-133047145	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs75970994	chr2:133047148-133047149	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs113763265	chr2:133047155-133047156	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs137927587	chr2:133047159-133047160	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs35893073	chr2:133047160-133047161	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs570517223	chr2:133047163-133047164	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs34809535	chr2:133047164-133047165	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs534355207	chr2:133047168-133047169	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs76097489	chr2:133047172-133047173	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs80194005	chr2:133047178-133047179	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs552910362	chr2:133047197-133047198	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs62163855	chr2:133047207-133047208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75000974	chr2:133047226-133047227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568034600	chr2:133047233-133047234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74723119	chr2:133047247-133047248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:950 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133046400-133047200	Bivalent Enhancer	Dnd41	blood
2	chr2:133046600-133046800	Enhancers	Primary T cells from cord blood	blood
3	chr2:133046600-133047000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:133046600-133047000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:133047000-133047400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:133047000-133051800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:133047400-133048000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:133048000-133048600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:133051800-133052200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:133052200-133053800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:133053800-133054200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:133055000-133058200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:133057800-133058200	Enhancers	Dnd41	blood
14	chr2:133058000-133058200	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:133058000-133058200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:133058200-133058400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:133058200-133058400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:133058200-133058400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:133058200-133058600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:133058200-133058600	Active TSS	Primary B cells from cord blood	blood
21	chr2:133058200-133058600	Active TSS	Primary T cells from cord blood	blood
22	chr2:133058200-133058600	Active TSS	Primary hematopoietic stem cells	blood
23	chr2:133058200-133058600	Active TSS	Adipose Nuclei	Adipose
24	chr2:133058200-133058600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
25	chr2:133058200-133058600	Active TSS	Duodenum Mucosa	Duodenum
26	chr2:133058200-133058600	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr2:133058200-133058600	Active TSS	Stomach Mucosa	stomach
28	chr2:133058200-133058600	Active TSS	HMEC	breast
29	chr2:133058200-133058600	Active TSS	Osteobl	bone
30	chr2:133058200-133058800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:133058200-133058800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:133058200-133058800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:133058200-133058800	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr2:133058200-133058800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:133058200-133058800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:133058200-133058800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:133058200-133058800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr2:133058200-133058800	Active TSS	Thymus	Thymus
39	chr2:133058200-133058800	Active TSS	A549	lung
40	chr2:133058200-133058800	Flanking Active TSS	Dnd41	blood
41	chr2:133058200-133058800	Active TSS	GM12878-XiMat	blood
42	chr2:133058200-133058800	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr2:133058400-133058600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr2:133058400-133058600	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr2:133058400-133058600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr2:133058400-133058600	Flanking Active TSS	Liver	Liver
47	chr2:133058400-133058600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr2:133058400-133058800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:133058400-133058800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr2:133058400-133058800	Enhancers	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links