Variant report

Variant	nsv1010438
Chromosome Location	chr2:55373562-55450144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1158)
CpG islands
(count:488)
Chromatin interactive
region (count:109)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1158 , 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	chr2:55402747-55403344	K562	blood:	n/a	n/a
2	ARID3A	chr2:55394461-55394804	K562	blood:	n/a	n/a
3	ARID3A	chr2:55385414-55385544	K562	blood:	n/a	n/a
4	ARID3A	chr2:55395475-55396065	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:55407537-55407828	HepG2	liver:	n/a	n/a
6	ATF1	chr2:55402780-55403136	K562	blood:	n/a	n/a
7	ATF1	chr2:55394564-55394831	K562	blood:	n/a	n/a
8	ATF1	chr2:55384680-55384998	K562	blood:	n/a	n/a
9	ATF2	chr2:55402647-55403132	GM12878	blood:	n/a	n/a
10	ATF2	chr2:55386393-55386871	GM12878	blood:	n/a	n/a
11	BATF	chr2:55384727-55384988	GM12878	blood:	n/a	n/a
12	BATF	chr2:55386475-55386753	GM12878	blood:	n/a	n/a
13	BCL11A	chr2:55381094-55381370	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:55384056-55384995	K562	blood:	n/a	n/a
15	BHLHE40	chr2:55384817-55385017	GM12878	blood:	n/a	n/a
16	BHLHE40	chr2:55394049-55394982	K562	blood:	n/a	n/a
17	BHLHE40	chr2:55393680-55393797	K562	blood:	n/a	n/a
18	BHLHE40	chr2:55386450-55386707	K562	blood:	n/a	chr2:55386585-55386601
19	CBX3	chr2:55394452-55394902	K562	blood:	n/a	n/a
20	CBX3	chr2:55435738-55436146	K562	blood:	n/a	n/a
21	CBX3	chr2:55435761-55436028	K562	blood:	n/a	n/a
22	CBX3	chr2:55385295-55385732	K562	blood:	n/a	n/a
23	CCNT2	chr2:55384827-55385000	K562	blood:	n/a	n/a
24	CCNT2	chr2:55395809-55395961	K562	blood:	n/a	n/a
25	CCNT2	chr2:55394554-55394819	K562	blood:	n/a	n/a
26	CEBPB	chr2:55387011-55387134	Hela-S3	cervix:	n/a	chr2:55387068-55387079
27	CEBPB	chr2:55380644-55381029	IMR90	lung:	n/a	n/a
28	CEBPB	chr2:55443600-55443812	K562	blood:	n/a	n/a
29	CEBPB	chr2:55443764-55443765	A549	lung:	n/a	n/a
30	CEBPB	chr2:55380654-55381030	HepG2	liver:	n/a	n/a
31	CEBPB	chr2:55386997-55387195	IMR90	lung:	n/a	chr2:55387068-55387079
32	CEBPB	chr2:55402543-55403062	K562	blood:	n/a	n/a
33	CEBPB	chr2:55449286-55449495	IMR90	lung:	n/a	n/a
34	CEBPB	chr2:55422062-55422402	HepG2	liver:	n/a	chr2:55422228-55422239
35	CEBPB	chr2:55384725-55385004	IMR90	lung:	n/a	n/a
36	CEBPB	chr2:55443657-55443785	HepG2	liver:	n/a	n/a
37	CEBPB	chr2:55388669-55388822	HepG2	liver:	n/a	chr2:55388781-55388794
38	CEBPB	chr2:55375483-55375837	IMR90	lung:	n/a	n/a
39	CEBPB	chr2:55375421-55375934	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr2:55380548-55381162	A549	lung:	n/a	n/a
41	CEBPB	chr2:55385727-55385946	K562	blood:	n/a	n/a
42	CEBPB	chr2:55444570-55444688	HepG2	liver:	n/a	chr2:55444609-55444620
43	CEBPB	chr2:55449272-55449493	A549	lung:	n/a	n/a
44	CEBPB	chr2:55449369-55449411	K562	blood:	n/a	n/a
45	CEBPB	chr2:55386984-55387145	K562	blood:	n/a	chr2:55387068-55387079
46	CEBPB	chr2:55422090-55422366	A549	lung:	n/a	chr2:55422228-55422239
47	CEBPB	chr2:55402492-55403081	IMR90	lung:	n/a	n/a
48	CEBPB	chr2:55380646-55381048	K562	blood:	n/a	n/a
49	CEBPB	chr2:55380712-55381040	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr2:55387010-55387125	HepG2	liver:	n/a	chr2:55387068-55387079

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55402999-55403049	Hepatocyte	liver:	n/a
2	chr2:55446669-55446719	PANC-1	pancreas:	n/a
3	chr2:55446669-55446719	NHBE	bronchial:	n/a
4	chr2:55393977-55394027	HRPEpiC	eye:	n/a
5	chr2:55393977-55394027	GM12878	blood:	n/a
6	chr2:55395888-55395938	SK-N-SH_RA	brain:	n/a
7	chr2:55393977-55394027	HMEC	breast:	n/a
8	chr2:55402999-55403049	HEEpiC	esophagus:	n/a
9	chr2:55393977-55394027	NB4	blood:	n/a
10	chr2:55395888-55395938	SKMC	muscle:	n/a
11	chr2:55393977-55394027	PrEC	prostate:	n/a
12	chr2:55446669-55446719	HepG2	liver:	n/a
13	chr2:55446669-55446719	Hela-S3	cervix:	n/a
14	chr2:55446669-55446719	K562	blood:	n/a
15	chr2:55389666-55389716	PrEC	prostate:	n/a
16	chr2:55446669-55446719	AG09319	gingival:	n/a
17	chr2:55393977-55394027	GM12892	blood:	n/a
18	chr2:55393977-55394027	Jurkat	blood:	n/a
19	chr2:55384477-55384527	MCF10A-Er-Src	breast:	n/a
20	chr2:55389666-55389716	HEK293	kidney:	embryo
21	chr2:55382186-55382236	HCT-116	colon:	n/a
22	chr2:55389666-55389716	PFSK-1	brain:	n/a
23	chr2:55395888-55395938	BJ	skin:	n/a
24	chr2:55384477-55384527	RPTEC	kidney:	n/a
25	chr2:55391421-55391471	HCT-116	colon:	n/a
26	chr2:55382186-55382236	HCF	heart:	n/a
27	chr2:55402999-55403049	AG04449	skin:	fetal
28	chr2:55389666-55389716	GM19239	blood:	n/a
29	chr2:55384477-55384527	BE2_C	brain:	n/a
30	chr2:55389666-55389716	NH-A	brain:	n/a
31	chr2:55393977-55394027	SKMC	muscle:	n/a
32	chr2:55382186-55382236	NHDF-neo	bronchial:	n/a
33	chr2:55395888-55395938	U87	brain:	n/a
34	chr2:55389666-55389716	CMK	blood:	n/a
35	chr2:55382186-55382236	LNCaP	prostate:	n/a
36	chr2:55395888-55395938	Hepatocyte	liver:	n/a
37	chr2:55384477-55384527	HCF	heart:	n/a
38	chr2:55389666-55389716	K562	blood:	n/a
39	chr2:55402999-55403049	SK-N-SH	brain:	n/a
40	chr2:55402999-55403049	LNCaP	prostate:	n/a
41	chr2:55391421-55391471	ProgFib	skin:	n/a
42	chr2:55391421-55391471	SK-N-SH_RA	brain:	n/a
43	chr2:55402999-55403049	NH-A	brain:	n/a
44	chr2:55384477-55384527	Hepatocyte	liver:	n/a
45	chr2:55402999-55403049	PANC-1	pancreas:	n/a
46	chr2:55384477-55384527	NT2-D1	testis:	n/a
47	chr2:55395888-55395938	GM12878	blood:	n/a
48	chr2:55446669-55446719	SAEC	small airway:	n/a
49	chr2:55384477-55384527	SKMC	muscle:	n/a
50	chr2:55395888-55395938	HAEpiC	amniotic membrane:	n/a

(count:109 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:55275101..55276800-chr2:55441099..55444085,2	K562	blood:
2	chr2:55366338..55369324-chr2:55384110..55386041,3	K562	blood:
3	chr2:55126891..55127632-chr2:55402484..55403169,4	MCF-7	breast:
4	chr2:55440554..55442948-chr2:55464620..55466638,2	MCF-7	breast:
5	chr2:55275586..55279731-chr2:55383502..55386447,3	K562	blood:
6	chr2:55366215..55370313-chr2:55376970..55382641,6	K562	blood:
7	chr2:55371026..55375430-chr2:55375600..55379751,6	K562	blood:
8	chr2:55424063..55425912-chr2:55471234..55472747,2	K562	blood:
9	chr2:55438202..55442828-chr2:55449571..55452245,4	MCF-7	breast:
10	chr2:55274212..55277423-chr2:55400698..55404492,4	K562	blood:
11	chr2:55435664..55437797-chr2:55450159..55452087,2	MCF-7	breast:
12	chr2:55256373..55258022-chr2:55400238..55403014,2	K562	blood:
13	chr2:55274533..55276717-chr2:55398790..55401683,2	K562	blood:
14	chr2:55276124..55278386-chr2:55377199..55379824,2	MCF-7	breast:
15	chr2:55396152..55398981-chr2:55400829..55403298,2	MCF-7	breast:
16	chr2:55277314..55278923-chr2:55386826..55389173,2	K562	blood:
17	chr2:55439611..55442389-chr2:55444067..55447159,3	K562	blood:
18	chr2:55242047..55242761-chr2:55395804..55396365,2	K562	blood:
19	chr2:55391168..55392772-chr2:55394267..55395800,2	MCF-7	breast:
20	chr2:55371026..55375430-chr2:55375600..55379751,6	K562	blood:
21	chr2:55276212..55277768-chr2:55374247..55375833,2	K562	blood:
22	chr2:55276196..55278592-chr2:55388732..55390265,2	MCF-7	breast:
23	chr2:55277394..55280185-chr2:55402655..55405697,3	K562	blood:
24	chr2:55394216..55396855-chr2:55401149..55403821,2	K562	blood:
25	chr2:55391168..55392772-chr2:55394267..55395800,2	MCF-7	breast:
26	chr2:55254227..55256679-chr2:55395838..55397468,2	K562	blood:
27	chr2:55359631..55362469-chr2:55389581..55391287,2	MCF-7	breast:
28	chr2:55389326..55391363-chr2:55393207..55395340,2	K562	blood:
29	chr2:55273899..55278013-chr2:55394987..55400290,7	K562	blood:
30	chr2:55385743..55388295-chr2:55460088..55461878,2	K562	blood:
31	chr2:55277310..55277991-chr2:55380185..55381166,2	Hela-S3	cervix:
32	chr2:55396231..55398049-chr2:55458251..55460461,2	K562	blood:
33	chr2:55291031..55292984-chr2:55393872..55396324,2	K562	blood:
34	chr2:55396357..55398246-chr2:55402197..55406122,3	MCF-7	breast:
35	chr2:55439611..55442665-chr2:55443845..55449055,6	K562	blood:
36	chr2:55368832..55370528-chr2:55373910..55375514,2	MCF-7	breast:
37	chr2:55275783..55278013-chr2:55394198..55397050,5	K562	blood:
38	chr2:18390509..18393280-chr2:55382468..55384962,2	MCF-7	breast:
39	chr2:55439611..55442389-chr2:55444067..55447159,3	K562	blood:
40	chr2:55241798..55242364-chr2:55402626..55403369,2	MCF-7	breast:
41	chr2:55269967..55271669-chr2:55397322..55399843,2	K562	blood:
42	chr2:55277501..55278176-chr2:55394308..55395014,2	K562	blood:
43	chr2:55418148..55421092-chr2:55618955..55620570,2	K562	blood:
44	chr2:55290475..55291200-chr2:55402493..55403001,2	MCF-7	breast:
45	chr2:55241288..55243824-chr2:55401386..55404364,2	MCF-7	breast:
46	chr2:55277523..55279403-chr2:55387349..55389378,2	K562	blood:
47	chr2:55389326..55391363-chr2:55393207..55395340,2	K562	blood:
48	chr2:55404004..55406813-chr2:55410897..55413319,2	K562	blood:
49	chr2:55437973..55440553-chr2:55504006..55505515,2	K562	blood:
50	chr2:55378428..55381284-chr2:55382487..55384417,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTIF2-3	chr2:55449371-55449629	NONHSAT070768
2	lnc-MTIF2-3	chr2:55445481-55445736	NONHSAT070768
3	lnc-MTIF2-3	chr2:55445256-55445736	NONHSAT070767
4	lnc-MTIF2-3	chr2:55404738-55404917	NONHSAT070763
5	lnc-C2orf63-1	chr2:55378213-55378338	XLOC_002098
6	lnc-MTIF2-1	chr2:55441523-55442286	ENSG00000203327.2
7	lnc-C2orf63-1	chr2:55397326-55397546	XLOC_002098
8	lnc-MTIF2-3	chr2:55402775-55403122	NONHSAT070763
9	lnc-MTIF2-1	chr2:55443111-55443262	ENSG00000203327.2

No data

Variant related genes	Relation type
ENSG00000227799	TF binding region
CLHC1	TF binding region
ENSG00000203327	TF binding region
ENSG00000227799	CpG island
CLHC1	CpG island
ENSG00000203327	CpG island
ENSG00000143947	chromatin interactions
ENSG00000038002	chromatin interactions
ENSG00000206964	chromatin interactions
ENSG00000266376	chromatin interactions
ENSG00000162994	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000200086	chromatin interactions
ENSG00000227799	chromatin interactions

Extended variants
information (count: 3085 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:3085 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13399572	chr2:55373562-55373563	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571560741	chr2:55373589-55373590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540995230	chr2:55373609-55373610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553996789	chr2:55373703-55373704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs117233778	chr2:55373734-55373735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148616848	chr2:55373762-55373763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190631367	chr2:55373843-55373844	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556416657	chr2:55373861-55373862	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576374111	chr2:55373865-55373866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544593869	chr2:55373866-55373867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564854467	chr2:55373878-55373879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114145604	chr2:55373882-55373883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182419288	chr2:55373896-55373897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12477082	chr2:55373936-55373937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529896019	chr2:55373945-55373946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550049000	chr2:55373948-55373949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563566919	chr2:55374006-55374007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374118634	chr2:55374047-55374048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552191712	chr2:55374071-55374072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571588432	chr2:55374094-55374095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368066406	chr2:55374138-55374139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529623675	chr2:55374148-55374149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142677701	chr2:55374177-55374178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187178747	chr2:55374196-55374197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192058586	chr2:55374245-55374246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs61197615	chr2:55374266-55374267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182982298	chr2:55374284-55374285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569922495	chr2:55374296-55374297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539270727	chr2:55374329-55374330	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs187283980	chr2:55374337-55374338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532084975	chr2:55374338-55374339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9309262	chr2:55374344-55374345	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112317448	chr2:55374376-55374377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147434120	chr2:55374413-55374414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568278250	chr2:55374459-55374460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552341393	chr2:55374468-55374469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540701655	chr2:55374469-55374470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569179547	chr2:55374477-55374478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554648525	chr2:55374484-55374485	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190332370	chr2:55374498-55374499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565977421	chr2:55374509-55374510	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs76141720	chr2:55374551-55374552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563426712	chr2:55374572-55374573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532369998	chr2:55374608-55374609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs538206794	chr2:55374643-55374644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557716820	chr2:55374644-55374645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs139719729	chr2:55374774-55374775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs527663446	chr2:55374787-55374788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547519759	chr2:55374819-55374820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182552600	chr2:55374822-55374823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Autism	20685689	CNVD
cervicovaginal lavage	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1641 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55361800-55378600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:55365200-55381000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:55365600-55378600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:55366200-55378600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:55367200-55378800	Weak transcription	Placenta	Placenta
6	chr2:55367800-55375000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:55369600-55374600	Weak transcription	Hela-S3	cervix
8	chr2:55369800-55374800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:55369800-55378200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:55369800-55378600	Weak transcription	Fetal Stomach	stomach
11	chr2:55370000-55375600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:55370000-55379600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:55371600-55382400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:55371800-55375800	Enhancers	K562	blood
15	chr2:55372800-55374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:55373000-55376000	Enhancers	HSMMtube	muscle
17	chr2:55373400-55373600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:55373400-55373800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:55373400-55373800	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:55373400-55381000	Weak transcription	Stomach Mucosa	stomach
21	chr2:55373600-55373800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:55373600-55373800	Enhancers	NHEK	skin
23	chr2:55373800-55375000	Weak transcription	NHEK	skin
24	chr2:55373800-55375600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:55373800-55375600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:55373800-55378600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:55374000-55378000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:55374600-55377400	Enhancers	Hela-S3	cervix
29	chr2:55374800-55376600	Enhancers	HUVEC	blood vessel
30	chr2:55374800-55377400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:55375000-55376200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:55375000-55376200	Enhancers	NHDF-Ad	bronchial
33	chr2:55375000-55376200	Enhancers	NHEK	skin
34	chr2:55375000-55376400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:55375000-55376600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:55375200-55376000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:55375200-55376000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:55375200-55376000	Enhancers	Osteobl	bone
39	chr2:55375200-55376600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:55375200-55378400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr2:55375400-55375800	Weak transcription	Fetal Thymus	thymus
42	chr2:55375400-55376000	Enhancers	HSMM	muscle
43	chr2:55375400-55376000	Enhancers	NH-A	brain
44	chr2:55375600-55376000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:55375600-55376000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:55375600-55376000	Enhancers	Fetal Muscle Leg	muscle
47	chr2:55375600-55376000	Enhancers	NHLF	lung
48	chr2:55375600-55376200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:55375600-55376400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr2:55375800-55376000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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