Variant report

Variant	esv1799450
Chromosome Location	chr2:55494904-55520842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1280)
CpG islands
(count:1466)
Chromatin interactive
region (count:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1280 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:55509163-55509804	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:55496079-55496648	HepG2	liver:	n/a	n/a
3	ATF2	chr2:55496074-55496639	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr2:55496025-55496883	GM12878	blood:	n/a	n/a
5	ATF2	chr2:55496054-55496589	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr2:55496023-55496744	GM12878	blood:	n/a	n/a
7	ATF2	chr2:55509172-55509997	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr2:55509103-55509930	GM12878	blood:	n/a	n/a
9	ATF3	chr2:55495945-55496752	A549	lung:	n/a	n/a
10	ATF3	chr2:55495727-55496643	A549	lung:	n/a	n/a
11	ATF3	chr2:55509128-55509706	A549	lung:	n/a	n/a
12	BACH1	chr2:55507233-55507574	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr2:55509167-55509605	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr2:55495852-55496650	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr2:55496203-55496583	GM12878	blood:	n/a	n/a
16	BCL11A	chr2:55496170-55496563	GM12878	blood:	n/a	n/a
17	BCL3	chr2:55496202-55496581	GM12878	blood:	n/a	n/a
18	BCL3	chr2:55509056-55509740	GM12878	blood:	n/a	chr2:55509245-55509258 chr2:55509239-55509248
19	BCL3	chr2:55495510-55496662	A549	lung:	n/a	chr2:55496096-55496109
20	BCL3	chr2:55509009-55510047	A549	lung:	n/a	chr2:55509245-55509258 chr2:55509239-55509248
21	BCL3	chr2:55508957-55510111	A549	lung:	n/a	chr2:55509245-55509258 chr2:55509239-55509248
22	BCL3	chr2:55495902-55496848	A549	lung:	n/a	chr2:55496096-55496109
23	BCLAF1	chr2:55495891-55496691	GM12878	blood:	n/a	chr2:55496096-55496109
24	BCLAF1	chr2:55509019-55509707	GM12878	blood:	n/a	chr2:55509245-55509258 chr2:55509239-55509248
25	BCLAF1	chr2:55496004-55496844	K562	blood:	n/a	chr2:55496096-55496109
26	BCLAF1	chr2:55509035-55509727	GM12878	blood:	n/a	chr2:55509245-55509258 chr2:55509239-55509248
27	BCLAF1	chr2:55495967-55496768	K562	blood:	n/a	chr2:55496096-55496109
28	BCLAF1	chr2:55495968-55496709	GM12878	blood:	n/a	chr2:55496096-55496109
29	BHLHE40	chr2:55509164-55510113	K562	blood:	n/a	n/a
30	BHLHE40	chr2:55495813-55496657	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:55495943-55496589	K562	blood:	n/a	n/a
32	BHLHE40	chr2:55495872-55496583	HepG2	liver:	n/a	n/a
33	BHLHE40	chr2:55509293-55509608	GM12878	blood:	n/a	n/a
34	BHLHE40	chr2:55497679-55497736	K562	blood:	n/a	n/a
35	BHLHE40	chr2:55504624-55504632	HepG2	liver:	n/a	n/a
36	BRCA1	chr2:55496097-55496551	HepG2	liver:	n/a	n/a
37	BRCA1	chr2:55496192-55496461	GM12878	blood:	n/a	n/a
38	BRCA1	chr2:55495943-55496523	H1-hESC	embryonic stem cell:	n/a	n/a
39	BRCA1	chr2:55509131-55509471	HepG2	liver:	n/a	chr2:55509176-55509183
40	BRCA1	chr2:55496247-55496707	Hela-S3	cervix:	n/a	n/a
41	CBX3	chr2:55508980-55510136	K562	blood:	n/a	n/a
42	CBX3	chr2:55495967-55496718	HCT-116	colon:	n/a	n/a
43	CBX3	chr2:55509238-55509539	K562	blood:	n/a	n/a
44	CBX3	chr2:55495905-55496706	K562	blood:	n/a	n/a
45	CBX3	chr2:55496034-55496683	K562	blood:	n/a	n/a
46	CCNT2	chr2:55510570-55510743	K562	blood:	n/a	n/a
47	CCNT2	chr2:55509090-55509763	K562	blood:	n/a	n/a
48	CCNT2	chr2:55495973-55496645	K562	blood:	n/a	n/a
49	CCNT2	chr2:55520341-55520369	K562	blood:	n/a	n/a
50	CEBPB	chr2:55496058-55496621	A549	lung:	n/a	n/a

(count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55496144-55496194	HNPCEpiC	eye:	n/a
2	chr2:55496371-55496421	NH-A	brain:	n/a
3	chr2:55496144-55496194	HNPCEpiC	eye:	n/a
4	chr2:55496371-55496421	NH-A	brain:	n/a
5	chr2:55509334-55509384	HRE	kidney:	n/a
6	chr2:55509150-55509200	HCPEpiC	choroid plexus:	n/a
7	chr2:55496490-55496540	HCF	heart:	n/a
8	chr2:55496490-55496540	LNCaP	prostate:	n/a
9	chr2:55496004-55496054	NH-A	brain:	n/a
10	chr2:55512437-55512487	U87	brain:	n/a
11	chr2:55496552-55496602	PrEC	prostate:	n/a
12	chr2:55496144-55496194	Jurkat	blood:	n/a
13	chr2:55496490-55496540	U87	brain:	n/a
14	chr2:55496384-55496434	HNPCEpiC	eye:	n/a
15	chr2:55496232-55496282	HRPEpiC	eye:	n/a
16	chr2:55496390-55496440	HIPEpiC	eye:	n/a
17	chr2:55515029-55515079	H1-hESC	embryonic stem cell:	embryo
18	chr2:55509150-55509200	AG04449	skin:	fetal
19	chr2:55496384-55496434	SK-N-SH_RA	brain:	n/a
20	chr2:55515029-55515079	BE2_C	brain:	n/a
21	chr2:55509150-55509200	HIPEpiC	eye:	n/a
22	chr2:55496384-55496434	AG09309	skin:	n/a
23	chr2:55515029-55515079	GM12891	blood:	n/a
24	chr2:55496552-55496602	BE2_C	brain:	n/a
25	chr2:55500061-55500111	ovcar-3	ovarian:	n/a
26	chr2:55496004-55496054	AG09319	gingival:	n/a
27	chr2:55496490-55496540	PANC-1	pancreas:	n/a
28	chr2:55512437-55512487	NB4	blood:	n/a
29	chr2:55496462-55496512	A549	lung:	n/a
30	chr2:55509105-55509155	GM12878	blood:	n/a
31	chr2:55496490-55496540	PFSK-1	brain:	n/a
32	chr2:55509779-55509829	CMK	blood:	n/a
33	chr2:55509523-55509573	Jurkat	blood:	n/a
34	chr2:55509523-55509573	NHDF-neo	bronchial:	n/a
35	chr2:55496490-55496540	HRPEpiC	eye:	n/a
36	chr2:55496232-55496282	HUVEC	blood vessel:	n/a
37	chr2:55512437-55512487	HCF	heart:	n/a
38	chr2:55500061-55500111	AG04449	skin:	fetal
39	chr2:55507730-55507780	MCF-7	breast:	n/a
40	chr2:55509253-55509303	AG09309	skin:	n/a
41	chr2:55496490-55496540	MCF-7	breast:	n/a
42	chr2:55511435-55511485	HepG2	liver:	n/a
43	chr2:55515029-55515079	HCF	heart:	n/a
44	chr2:55496490-55496540	SK-N-SH_RA	brain:	n/a
45	chr2:55507730-55507780	CMK	blood:	n/a
46	chr2:55512437-55512487	NT2-D1	testis:	n/a
47	chr2:55509258-55509308	HRPEpiC	eye:	n/a
48	chr2:55496384-55496434	Jurkat	blood:	n/a
49	chr2:55509253-55509303	HCM	heart:	n/a
50	chr2:55509150-55509200	HUVEC	blood vessel:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:55496021..55498315-chr2:55843389..55845953,2	K562	blood:
2	chr2:55507639..55510296-chr2:55843126..55844712,2	K562	blood:
3	chr2:55509373..55510992-chr2:55512785..55514521,3	MCF-7	breast:
4	chr2:55495690..55497899-chr2:55501241..55503217,2	MCF-7	breast:
5	chr2:55496021..55497900-chr2:55843389..55845266,2	K562	blood:
6	chr2:55508669..55511212-chr2:55645960..55648569,3	MCF-7	breast:
7	chr2:55274992..55277411-chr2:55494676..55497816,3	K562	blood:
8	chr2:55458112..55461105-chr2:55507986..55510921,3	MCF-7	breast:
9	chr2:55508376..55510742-chr2:55843787..55846796,4	K562	blood:
10	chr2:55494684..55499569-chr2:55516943..55523168,5	K562	blood:
11	chr2:55507859..55511177-chr2:55645007..55647398,3	K562	blood:
12	chr2:55508571..55512777-chr2:55645734..55648780,3	K562	blood:
13	chr2:55518930..55520910-chr2:55525941..55528054,2	K562	blood:
14	chr2:55516061..55518491-chr2:55518529..55520349,2	K562	blood:
15	chr2:55499045..55500751-chr2:55505359..55507052,2	MCF-7	breast:
16	chr2:55520326..55522931-chr2:55543015..55545040,2	K562	blood:
17	chr2:55450683..55452300-chr2:55507599..55509366,2	K562	blood:
18	chr2:55437973..55440553-chr2:55504006..55505515,2	K562	blood:
19	chr2:55516323..55518543-chr2:55519705..55522425,2	MCF-7	breast:
20	chr2:55513717..55517670-chr2:55518024..55521740,6	K562	blood:
21	chr2:55516061..55518491-chr2:55518529..55520349,2	K562	blood:
22	chr2:55510957..55512657-chr2:55520415..55521941,2	MCF-7	breast:
23	chr2:55496544..55498355-chr2:55643954..55646229,2	K562	blood:
24	chr2:55499045..55500751-chr2:55505359..55507052,2	MCF-7	breast:
25	chr2:55494928..55498059-chr2:55506695..55512310,8	K562	blood:
26	chr2:55495879..55496701-chr7:143598878..143599680,2	HCT-116	colon:
27	chr2:55514301..55516151-chr2:55518959..55520928,3	MCF-7	breast:
28	chr12:120728776..120730953-chr2:55493561..55496361,2	MCF-7	breast:
29	chr2:55509373..55510992-chr2:55512785..55514521,3	MCF-7	breast:
30	chr2:55274992..55276773-chr2:55494676..55496447,2	K562	blood:
31	chr2:55496311..55498089-chr2:55508225..55509799,2	MCF-7	breast:
32	chr2:55475194..55477770-chr2:55494963..55497132,2	MCF-7	breast:
33	chr2:55458156..55461118-chr2:55494163..55499368,6	MCF-7	breast:
34	chr2:55512725..55515035-chr2:55515151..55518093,2	MCF-7	breast:
35	chr2:55494750..55497639-chr2:55510154..55512422,2	MCF-7	breast:
36	chr2:55458256..55462359-chr2:55494864..55497801,3	K562	blood:
37	chr2:55510957..55512657-chr2:55520415..55521941,2	MCF-7	breast:
38	chr2:55513717..55517670-chr2:55518024..55521740,6	K562	blood:
39	chr2:55493189..55494879-chr2:55494974..55496543,2	MCF-7	breast:
40	chr2:55517531..55519068-chr2:55523898..55526477,2	MCF-7	breast:
41	chr2:55495418..55497283-chr2:55513358..55515845,2	MCF-7	breast:
42	chr2:55516323..55518543-chr2:55519705..55522425,2	MCF-7	breast:
43	chr2:55457538..55465596-chr2:55493335..55497971,13	MCF-7	breast:
44	chr2:55494928..55498059-chr2:55506695..55512310,8	K562	blood:
45	chr2:55458256..55461079-chr2:55494634..55496499,3	K562	blood:
46	chr2:55501447..55504547-chr2:55508034..55511018,3	MCF-7	breast:
47	chr2:55494631..55497013-chr2:55842868..55845390,2	MCF-7	breast:
48	chr2:55497553..55499335-chr2:55513107..55515419,2	K562	blood:
49	chr2:55495242..55497992-chr2:55516142..55518443,2	K562	blood:
50	chr2:55501428..55503229-chr2:55507740..55510366,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRORSD1P	TF binding region
MTIF2	TF binding region
ENSG00000206964	TF binding region
PRORSD1P	CpG island
MTIF2	CpG island
ENSG00000206964	CpG island
ENSG00000138041	chromatin interactions
ENSG00000143947	chromatin interactions
ENSG00000198420	chromatin interactions
ENSG00000272606	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000162994	chromatin interactions
ENSG00000115355	chromatin interactions
ENSG00000227799	chromatin interactions
ENSG00000085760	chromatin interactions
ENSG00000162997	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000206964	chromatin interactions

Extended variants
information (count: 1144 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1144 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7590143	chr2:55494904-55494905	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181606890	chr2:55494924-55494925	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs138977305	chr2:55494975-55494976	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs538732447	chr2:55495011-55495012	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs372427573	chr2:55495033-55495034	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs2589107	chr2:55495040-55495041	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535340980	chr2:55495072-55495073	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs555349275	chr2:55495114-55495115	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs549782605	chr2:55495164-55495165	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs575200608	chr2:55495191-55495192	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs186776041	chr2:55495194-55495195	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs6545483	chr2:55495251-55495252	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs542261552	chr2:55495257-55495258	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs576886274	chr2:55495263-55495264	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs553840248	chr2:55495279-55495280	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs559500175	chr2:55495303-55495304	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs200109579	chr2:55495385-55495386	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs11445334	chr2:55495388-55495389	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs67888234	chr2:55495389-55495390	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs79917762	chr2:55495390-55495391	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs372884666	chr2:55495479-55495480	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs115142837	chr2:55495497-55495498	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs541612813	chr2:55495523-55495524	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs561679665	chr2:55495525-55495526	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs149006823	chr2:55495531-55495532	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs543258736	chr2:55495597-55495598	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs552395260	chr2:55495604-55495605	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs550172850	chr2:55495622-55495623	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs191216408	chr2:55495644-55495645	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs532650356	chr2:55495650-55495651	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs552343167	chr2:55495653-55495654	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs183230077	chr2:55495679-55495680	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs535274211	chr2:55495689-55495690	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs115768597	chr2:55495695-55495696	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs568791234	chr2:55495776-55495777	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs75917411	chr2:55495780-55495781	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs373403185	chr2:55495794-55495795	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs532473308	chr2:55495807-55495808	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs373199424	chr2:55495809-55495810	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs114288260	chr2:55495838-55495839	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs145829133	chr2:55495856-55495857	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs112080366	chr2:55495866-55495867	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs570304658	chr2:55495884-55495885	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs539414073	chr2:55495895-55495896	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs552831391	chr2:55495931-55495932	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs572584734	chr2:55495997-55495998	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs201663156	chr2:55496011-55496012	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs541653794	chr2:55496027-55496028	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs555116859	chr2:55496070-55496071	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs12623872	chr2:55496078-55496079	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:78)

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

Chromatin state (count:1332 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55461600-55495400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:55461600-55495400	Weak transcription	Stomach Mucosa	stomach
3	chr2:55461800-55495000	Weak transcription	Fetal Brain Male	brain
4	chr2:55463000-55495400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:55463800-55495600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:55464600-55495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:55472000-55495200	Weak transcription	Psoas Muscle	Psoas
8	chr2:55476000-55495400	Weak transcription	HUVEC	blood vessel
9	chr2:55476600-55495400	Weak transcription	Aorta	Aorta
10	chr2:55476600-55495400	Weak transcription	Fetal Heart	heart
11	chr2:55476600-55495600	Weak transcription	Esophagus	oesophagus
12	chr2:55476800-55495400	Weak transcription	Fetal Kidney	kidney
13	chr2:55480000-55495400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:55480400-55495600	Weak transcription	Brain Substantia Nigra	brain
15	chr2:55481400-55495400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:55481400-55495400	Weak transcription	Fetal Lung	lung
17	chr2:55481600-55495400	Weak transcription	NHDF-Ad	bronchial
18	chr2:55487200-55495400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:55488000-55495400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:55489600-55495000	Weak transcription	Hela-S3	cervix
21	chr2:55489600-55495400	Weak transcription	NH-A	brain
22	chr2:55490600-55495600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:55491000-55495400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:55491000-55495400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:55491000-55495400	Weak transcription	Brain Germinal Matrix	brain
26	chr2:55491000-55495400	Weak transcription	Right Ventricle	heart
27	chr2:55491400-55495600	Weak transcription	Ovary	ovary
28	chr2:55491600-55495400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:55491600-55495400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:55491600-55495400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:55491600-55495400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:55491600-55495400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:55491600-55495400	Weak transcription	Brain Angular Gyrus	brain
34	chr2:55491600-55495400	Weak transcription	HMEC	breast
35	chr2:55491600-55495400	Weak transcription	HSMM	muscle
36	chr2:55491600-55495600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:55491600-55495600	Weak transcription	Small Intestine	intestine
38	chr2:55491800-55495000	Weak transcription	K562	blood
39	chr2:55491800-55495400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:55491800-55495400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:55491800-55495400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:55491800-55495400	Weak transcription	Colonic Mucosa	Colon
43	chr2:55491800-55495400	Weak transcription	Fetal Brain Female	brain
44	chr2:55491800-55495400	Weak transcription	Fetal Thymus	thymus
45	chr2:55491800-55495400	Weak transcription	HSMMtube	muscle
46	chr2:55491800-55495600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:55491800-55495600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:55491800-55495600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:55491800-55495600	Weak transcription	Thymus	Thymus
50	chr2:55492000-55495000	Weak transcription	Brain Hippocampus Middle	brain

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