Variant report

Variant	nsv874161
Chromosome Location	chr2:56154316-56203798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:56176611-56176849	K562	blood:	n/a	n/a
2	BHLHE40	chr2:56179662-56179772	K562	blood:	n/a	n/a
3	BRCA1	chr2:56185307-56185905	Hela-S3	cervix:	n/a	chr2:56185516-56185523
4	CCNT2	chr2:56197002-56197125	K562	blood:	n/a	n/a
5	CEBPB	chr2:56185307-56185901	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr2:56175780-56175950	HepG2	liver:	n/a	chr2:56175877-56175888 chr2:56175833-56175845 chr2:56175875-56175886
7	CEBPB	chr2:56156684-56156955	K562	blood:	n/a	chr2:56156796-56156809 chr2:56156796-56156809
8	CEBPB	chr2:56156617-56157099	A549	lung:	n/a	chr2:56156796-56156809 chr2:56156796-56156809
9	CEBPB	chr2:56187982-56188776	Hela-S3	cervix:	n/a	chr2:56188216-56188227
10	CEBPB	chr2:56184394-56184781	A549	lung:	n/a	n/a
11	CEBPB	chr2:56202108-56202245	HepG2	liver:	n/a	chr2:56202135-56202146
12	CEBPB	chr2:56154142-56154492	IMR90	lung:	n/a	chr2:56154322-56154333
13	CEBPB	chr2:56154149-56154501	Hela-S3	cervix:	n/a	chr2:56154322-56154333
14	CEBPB	chr2:56156700-56156963	HepG2	liver:	n/a	chr2:56156796-56156809 chr2:56156796-56156809
15	CEBPB	chr2:56175367-56176048	IMR90	lung:	n/a	chr2:56175877-56175888 chr2:56175833-56175845 chr2:56175875-56175886
16	CEBPB	chr2:56154143-56154495	A549	lung:	n/a	chr2:56154322-56154333
17	CEBPB	chr2:56184322-56184866	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr2:56181501-56182220	Hela-S3	cervix:	n/a	chr2:56182021-56182032 chr2:56182021-56182034 chr2:56182021-56182032 chr2:56181888-56181899 chr2:56182022-56182033
19	CEBPB	chr2:56154199-56154469	H1-hESC	embryonic stem cell:	n/a	chr2:56154322-56154333
20	CEBPB	chr2:56154185-56154462	K562	blood:	n/a	chr2:56154322-56154333
21	CEBPB	chr2:56181966-56182148	HepG2	liver:	n/a	chr2:56182021-56182032 chr2:56182021-56182034 chr2:56182021-56182032 chr2:56182022-56182033
22	CEBPB	chr2:56156644-56156995	IMR90	lung:	n/a	chr2:56156796-56156809 chr2:56156796-56156809
23	CEBPB	chr2:56154142-56154498	HepG2	liver:	n/a	chr2:56154322-56154333
24	CEBPB	chr2:56154099-56154490	MCF-7	breast:	n/a	chr2:56154322-56154333
25	CEBPB	chr2:56174729-56176073	Hela-S3	cervix:	n/a	chr2:56175877-56175888 chr2:56175833-56175845 chr2:56175875-56175886
26	CEBPB	chr2:56181805-56182200	IMR90	lung:	n/a	chr2:56182021-56182032 chr2:56182021-56182034 chr2:56182021-56182032 chr2:56181888-56181899 chr2:56182022-56182033
27	CHD2	chr2:56185392-56185956	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr2:56188410-56188721	ECC-1	luminal epithelium:	n/a	chr2:56188621-56188642 chr2:56188627-56188643 chr2:56188628-56188641 chr2:56188626-56188644
29	CTCF	chr2:56188532-56188737	GM13977	blood:	n/a	chr2:56188621-56188642 chr2:56188627-56188643 chr2:56188628-56188641 chr2:56188626-56188644
30	CTCF	chr2:56181940-56182090	RPTEC	kidney:	n/a	n/a
31	CTCF	chr2:56188269-56188944	HCT-116	colon:	n/a	chr2:56188621-56188642 chr2:56188627-56188643 chr2:56188628-56188641 chr2:56188626-56188644
32	CTCF	chr2:56189300-56189450	AG10803	skin:	n/a	n/a
33	CTCF	chr2:56188520-56188670	GM12872	blood:	n/a	chr2:56188621-56188642 chr2:56188627-56188643 chr2:56188628-56188641 chr2:56188626-56188644
34	CTCF	chr2:56188430-56188808	A549	lung:	n/a	chr2:56188621-56188642 chr2:56188627-56188643 chr2:56188628-56188641 chr2:56188626-56188644
35	CTCF	chr2:56188400-56188550	A549	lung:	n/a	n/a
36	CTCF	chr2:56193733-56193841	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr2:56186740-56186890	HRE	kidney:	n/a	n/a
38	CTCF	chr2:56179691-56179710	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr2:56188980-56189130	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr2:56179623-56179814	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:56188560-56188710	RPTEC	kidney:	n/a	chr2:56188621-56188642 chr2:56188627-56188643 chr2:56188628-56188641 chr2:56188626-56188644
42	CTCF	chr2:56188533-56188678	GM19239	blood:	n/a	chr2:56188621-56188642 chr2:56188627-56188643 chr2:56188628-56188641 chr2:56188626-56188644
43	CTCF	chr2:56188412-56188891	K562	blood:	n/a	chr2:56188621-56188642 chr2:56188627-56188643 chr2:56188628-56188641 chr2:56188626-56188644
44	CTCF	chr2:56189020-56189170	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr2:56188120-56188270	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr2:56188540-56188690	GM12873	blood:	n/a	chr2:56188621-56188642 chr2:56188627-56188643 chr2:56188628-56188641 chr2:56188626-56188644
47	CTCF	chr2:56193628-56193896	A549	lung:	n/a	n/a
48	CTCF	chr2:56188540-56188690	HEK293	kidney:	n/a	chr2:56188621-56188642 chr2:56188627-56188643 chr2:56188628-56188641 chr2:56188626-56188644
49	CTCF	chr2:56188560-56188710	GM12870	blood:	n/a	chr2:56188621-56188642 chr2:56188627-56188643 chr2:56188628-56188641 chr2:56188626-56188644
50	CTCF	chr2:56155400-56155429	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:56192635-56192685	AG04450	lung:	fetal
2	chr2:56192635-56192685	HCF	heart:	n/a
3	chr2:56192635-56192685	NB4	blood:	n/a
4	chr2:56192635-56192685	HIPEpiC	eye:	n/a
5	chr2:56185789-56185839	SKMC	muscle:	n/a
6	chr2:56192635-56192685	Caco-2	colon:	n/a
7	chr2:56185789-56185839	HL-60	blood:	n/a
8	chr2:56192635-56192685	HRCEpiC	kidney:	n/a
9	chr2:56185789-56185839	GM12878	blood:	n/a
10	chr2:56192635-56192685	HepG2	liver:	n/a
11	chr2:56185789-56185839	HNPCEpiC	eye:	n/a
12	chr2:56192635-56192685	PANC-1	pancreas:	n/a
13	chr2:56185789-56185839	AG04449	skin:	fetal
14	chr2:56185789-56185839	ProgFib	skin:	n/a
15	chr2:56185789-56185839	SK-N-SH_RA	brain:	n/a
16	chr2:56192635-56192685	NT2-D1	testis:	n/a
17	chr2:56192635-56192685	HL-60	blood:	n/a
18	chr2:56185789-56185839	Hela-S3	cervix:	n/a
19	chr2:56185789-56185839	A549	lung:	n/a
20	chr2:56192635-56192685	PrEC	prostate:	n/a
21	chr2:56192635-56192685	SK-N-SH	brain:	n/a
22	chr2:56192635-56192685	MCF10A-Er-Src	breast:	n/a
23	chr2:56185789-56185839	HCM	heart:	n/a
24	chr2:56185789-56185839	K562	blood:	n/a
25	chr2:56192635-56192685	GM12878	blood:	n/a
26	chr2:56192635-56192685	PFSK-1	brain:	n/a
27	chr2:56185789-56185839	LNCaP	prostate:	n/a
28	chr2:56192635-56192685	HMEC	breast:	n/a
29	chr2:56185789-56185839	ECC-1	luminal epithelium:	n/a
30	chr2:56192635-56192685	SAEC	small airway:	n/a
31	chr2:56192635-56192685	AG09319	gingival:	n/a
32	chr2:56192635-56192685	AG04449	skin:	fetal
33	chr2:56192635-56192685	K562	blood:	n/a
34	chr2:56192635-56192685	ECC-1	luminal epithelium:	n/a
35	chr2:56185789-56185839	BE2_C	brain:	n/a
36	chr2:56185789-56185839	CMK	blood:	n/a
37	chr2:56192635-56192685	SK-N-SH_RA	brain:	n/a
38	chr2:56185789-56185839	Caco-2	colon:	n/a
39	chr2:56185789-56185839	AoSMC	blood vessel:	n/a
40	chr2:56185789-56185839	NH-A	brain:	n/a
41	chr2:56185789-56185839	AG10803	skin:	n/a
42	chr2:56192635-56192685	HCPEpiC	choroid plexus:	n/a
43	chr2:56192635-56192685	LNCaP	prostate:	n/a
44	chr2:56192635-56192685	A549	lung:	n/a
45	chr2:56185789-56185839	HAEpiC	amniotic membrane:	n/a
46	chr2:56185789-56185839	IMR90	lung:	fetal
47	chr2:56192635-56192685	GM12892	blood:	n/a
48	chr2:56192635-56192685	HEK293	kidney:	embryo
49	chr2:56185789-56185839	BJ	skin:	n/a
50	chr2:56192635-56192685	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:56001464..56004424-chr2:56185372..56187665,3	MCF-7	breast:
2	chr12:2903788..2906211-chr2:56187891..56190669,2	MCF-7	breast:
3	chr2:55945407..55945989-chr2:56188428..56188986,2	MCF-7	breast:
4	chr2:56174984..56177810-chr2:56181564..56184235,2	K562	blood:
5	chr2:56149060..56151450-chr2:56151647..56155915,3	MCF-7	breast:
6	chr2:55998660..55999310-chr2:56188089..56189086,3	K562	blood:
7	chr2:56158828..56161506-chr2:56178207..56181197,2	MCF-7	breast:
8	chr2:56174984..56177810-chr2:56181564..56184235,2	K562	blood:
9	chr2:56150165..56151052-chr2:56188223..56189072,3	MCF-7	breast:
10	chr2:56169478..56172187-chr2:56174953..56177671,2	MCF-7	breast:
11	chr2:55944515..55947437-chr2:56188349..56191143,2	MCF-7	breast:
12	chr2:55998494..55999415-chr2:56188226..56189063,2	MCF-7	breast:
13	chr2:56159616..56161838-chr2:56172027..56174900,2	MCF-7	breast:
14	chr2:55945011..55946407-chr2:56188187..56189117,5	K562	blood:
15	chr2:56187210..56190071-chr2:56191391..56193290,2	K562	blood:
16	chr2:56159616..56161838-chr2:56172027..56174900,2	MCF-7	breast:
17	chr2:56152117..56154083-chr2:56155709..56157314,3	K562	blood:
18	chr2:55943881..55946260-chr2:56171300..56172831,2	K562	blood:
19	chr2:56187210..56190071-chr2:56191391..56193290,2	K562	blood:
20	chr2:55998188..55999614-chr2:56188128..56189121,13	MCF-7	breast:
21	chr2:56169478..56172187-chr2:56174953..56177671,2	MCF-7	breast:
22	chr2:56149371..56151100-chr2:56187829..56189531,2	MCF-7	breast:
23	chr2:55958747..55960432-chr2:56187012..56189326,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFEMP1-4	chr2:56158056-56158694	NONHSAT070809
2	lnc-CCDC85A-4	chr2:56163008-56163084	ucscGeneNc_uc002rzk_2
3	lnc-EFEMP1-1	chr2:56190326-56191017	ENSG00000226702
4	lnc-EFEMP1-1	chr2:56200943-56202732	NONHSAT070812
5	lnc-EFEMP1-4	chr2:56155293-56158694	ucscGeneNc_uc002rzl_1
6	lnc-EFEMP1-1	chr2:56186575-56191017	NONHSAT070812
7	lnc-EFEMP1-4	chr2:56170949-56171015	ucscGeneNc_uc002rzl_1
8	lnc-EFEMP1-5	chr2:56178789-56179149	NONHSAT070810
9	lnc-EFEMP1-1	chr2:56202902-56203042	NONHSAT070812
10	lnc-EFEMP1-4	chr2:56170949-56171021	NONHSAT070809
11	lnc-EFEMP1-1	chr2:56183727-56185924	NONHSAT070812
12	lnc-CCDC85A-2	chr2:56179293-56179374	ENSG00000272180.1

Variant related genes	Relation type
EFEMP1	TF binding region
ENSG00000272180	TF binding region
RN7SKP208	TF binding region
EFEMP1	CpG island
ENSG00000272180	CpG island
RN7SKP208	CpG island
ENSG00000004478	chromatin interactions
ENSG00000202344	chromatin interactions
ENSG00000115380	chromatin interactions
ENSG00000272180	chromatin interactions

Extended variants
information (count: 1803 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1803 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10469935	chr2:56154316-56154317	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574059245	chr2:56154411-56154412	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542245110	chr2:56154415-56154416	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs139969018	chr2:56154441-56154442	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs183990707	chr2:56154513-56154514	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561829884	chr2:56154529-56154530	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546090020	chr2:56154600-56154601	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188313061	chr2:56154717-56154718	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs191283051	chr2:56154724-56154725	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs547878687	chr2:56154755-56154756	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs567796521	chr2:56154758-56154759	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs184987244	chr2:56154770-56154771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369453526	chr2:56154771-56154772	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371369048	chr2:56154810-56154811	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190295747	chr2:56154872-56154873	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs141797128	chr2:56154894-56154895	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs144523895	chr2:56154913-56154914	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148536853	chr2:56154918-56154919	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376241520	chr2:56154941-56154942	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201220756	chr2:56154957-56154958	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75168075	chr2:56154974-56154975	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567552041	chr2:56155041-56155042	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs377128599	chr2:56155046-56155047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114629833	chr2:56155053-56155054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs574242705	chr2:56155059-56155060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544256571	chr2:56155085-56155086	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35638669	chr2:56155086-56155087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548823613	chr2:56155120-56155121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs6707184	chr2:56155140-56155141	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556646923	chr2:56155151-56155152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs151042429	chr2:56155212-56155213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545751646	chr2:56155213-56155214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545568307	chr2:56155253-56155254	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559633049	chr2:56155261-56155262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559616418	chr2:56155264-56155265	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528280684	chr2:56155309-56155310	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs542072843	chr2:56155318-56155319	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs140743284	chr2:56155339-56155340	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs530257919	chr2:56155340-56155341	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs550307432	chr2:56155356-56155357	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs144603191	chr2:56155370-56155371	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs532557718	chr2:56155385-56155386	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs548189886	chr2:56155398-56155399	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs371425948	chr2:56155430-56155431	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs182119388	chr2:56155469-56155470	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs76634416	chr2:56155509-56155510	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs113959191	chr2:56155528-56155529	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs568328410	chr2:56155571-56155572	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs536704283	chr2:56155598-56155599	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs557041186	chr2:56155678-56155679	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56153400-56154400	Enhancers	A549	lung
2	chr2:56156200-56157400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:56156600-56157000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:56160000-56160200	Enhancers	GM12878-XiMat	blood
5	chr2:56161400-56162200	Enhancers	Dnd41	blood
6	chr2:56161600-56161800	Enhancers	GM12878-XiMat	blood
7	chr2:56163800-56164000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:56164000-56164200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:56164200-56170600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:56167600-56168600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:56168800-56169200	Enhancers	HUVEC	blood vessel
12	chr2:56170400-56171000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:56170400-56171000	Enhancers	HMEC	breast
14	chr2:56170400-56171200	Enhancers	NHEK	skin
15	chr2:56170600-56171000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:56170600-56171200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:56171000-56176400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:56171000-56185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:56171200-56176400	Weak transcription	NHEK	skin
20	chr2:56174400-56176000	Enhancers	Adipose Nuclei	Adipose
21	chr2:56174600-56175200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:56174600-56176400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:56174800-56175200	Enhancers	Fetal Kidney	kidney
24	chr2:56174800-56176400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:56174800-56176400	Enhancers	Osteobl	bone
26	chr2:56174800-56177000	Enhancers	Hela-S3	cervix
27	chr2:56175000-56175400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:56175000-56177000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:56175000-56177000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:56175200-56175400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr2:56175200-56175600	Enhancers	HUVEC	blood vessel
32	chr2:56175200-56176400	Weak transcription	Fetal Kidney	kidney
33	chr2:56175400-56175600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:56175600-56175800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:56175600-56181400	Weak transcription	HUVEC	blood vessel
36	chr2:56175800-56176400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:56176000-56181400	Weak transcription	Adipose Nuclei	Adipose
38	chr2:56176400-56176600	Enhancers	Fetal Kidney	kidney
39	chr2:56176400-56177200	Enhancers	NHEK	skin
40	chr2:56176400-56177400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:56176400-56181000	Weak transcription	Osteobl	bone
42	chr2:56176400-56181400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:56176600-56181200	Weak transcription	Fetal Kidney	kidney
44	chr2:56176800-56177000	Enhancers	Gastric	stomach
45	chr2:56176800-56177800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:56177000-56181400	Weak transcription	Hela-S3	cervix
47	chr2:56177600-56177800	Enhancers	Gastric	stomach
48	chr2:56178000-56185200	Weak transcription	Right Atrium	heart
49	chr2:56178800-56180600	Active TSS	Stomach Smooth Muscle	stomach
50	chr2:56179000-56180000	Active TSS	Fetal Stomach	stomach

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