Variant report

Variant	esv3360842
Chromosome Location	chr12:49452910-49455458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:814)
CpG islands
(count:428)
Chromatin interactive
region (count:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:814 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:49454474-49454716	K562	blood:	n/a	n/a
2	ARID3A	chr12:49454397-49454807	HepG2	liver:	n/a	n/a
3	ATF1	chr12:49454421-49454774	K562	blood:	n/a	n/a
4	ATF2	chr12:49454115-49454827	GM12878	blood:	n/a	n/a
5	ATF2	chr12:49454229-49454848	GM12878	blood:	n/a	n/a
6	ATF2	chr12:49454425-49455036	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:49454237-49455154	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr12:49454141-49455131	A549	lung:	n/a	chr12:49454180-49454189
9	ATF3	chr12:49454186-49454935	A549	lung:	n/a	n/a
10	BACH1	chr12:49454386-49454800	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr12:49454369-49454814	K562	blood:	n/a	n/a
12	BATF	chr12:49454455-49454685	GM12878	blood:	n/a	n/a
13	BCL11A	chr12:49454462-49454740	H1-hESC	embryonic stem cell:	n/a	chr12:49454720-49454729 chr12:49454573-49454582
14	BCL11A	chr12:49454469-49454688	GM12878	blood:	n/a	chr12:49454573-49454582
15	BCL11A	chr12:49454380-49454842	GM12878	blood:	n/a	chr12:49454720-49454729 chr12:49454573-49454582
16	BCL3	chr12:49454283-49455426	A549	lung:	n/a	chr12:49454720-49454729 chr12:49454357-49454370 chr12:49454950-49454963 chr12:49454892-49454905 chr12:49454573-49454582 chr12:49454363-49454376
17	BCL3	chr12:49454304-49454902	K562	blood:	n/a	chr12:49454720-49454729 chr12:49454357-49454370 chr12:49454573-49454582 chr12:49454363-49454376
18	BCL3	chr12:49454053-49455212	A549	lung:	n/a	chr12:49454720-49454729 chr12:49454357-49454370 chr12:49454950-49454963 chr12:49454180-49454193 chr12:49454892-49454905 chr12:49454573-49454582 chr12:49454363-49454376
19	BCL3	chr12:49454421-49454816	GM12878	blood:	n/a	chr12:49454720-49454729 chr12:49454573-49454582
20	BCLAF1	chr12:49453970-49455012	GM12878	blood:	n/a	chr12:49454720-49454729 chr12:49454357-49454370 chr12:49454043-49454056 chr12:49454950-49454963 chr12:49454180-49454193 chr12:49454892-49454905 chr12:49454573-49454582 chr12:49454363-49454376
21	BCLAF1	chr12:49454001-49454880	GM12878	blood:	n/a	chr12:49454720-49454729 chr12:49454357-49454370 chr12:49454043-49454056 chr12:49454180-49454193 chr12:49454573-49454582 chr12:49454363-49454376
22	BHLHE40	chr12:49453092-49453139	K562	blood:	n/a	n/a
23	BHLHE40	chr12:49454419-49454861	HepG2	liver:	n/a	chr12:49454670-49454686
24	BHLHE40	chr12:49454284-49454976	GM12878	blood:	n/a	chr12:49454670-49454686
25	BHLHE40	chr12:49454415-49455048	K562	blood:	n/a	chr12:49454670-49454686
26	BRCA1	chr12:49454445-49454789	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr12:49454214-49454946	HepG2	liver:	n/a	n/a
28	BRCA1	chr12:49454447-49454954	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr12:49454415-49454778	GM12878	blood:	n/a	n/a
30	CBX3	chr12:49454215-49455085	K562	blood:	n/a	n/a
31	CBX3	chr12:49454438-49454918	K562	blood:	n/a	n/a
32	CCNT2	chr12:49453250-49455095	K562	blood:	n/a	chr12:49454180-49454189
33	CEBPB	chr12:49454557-49454802	HepG2	liver:	n/a	n/a
34	CEBPB	chr12:49454301-49454955	A549	lung:	n/a	n/a
35	CEBPB	chr12:49454484-49454824	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr12:49454301-49455004	GM12878	blood:	n/a	n/a
37	CEBPB	chr12:49454183-49454968	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPB	chr12:49454431-49454851	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr12:49454639-49454667	K562	blood:	n/a	n/a
40	CEBPD	chr12:49454297-49454895	K562	blood:	n/a	n/a
41	CEBPD	chr12:49454507-49454824	HepG2	liver:	n/a	n/a
42	CHD1	chr12:49453701-49454865	GM12878	blood:	n/a	chr12:49454043-49454053 chr12:49454374-49454384 chr12:49453842-49453852
43	CHD1	chr12:49453570-49453806	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD1	chr12:49451619-49455170	IMR90	lung:	n/a	chr12:49454043-49454053 chr12:49454374-49454384 chr12:49453842-49453852
45	CHD1	chr12:49454125-49454753	H1-hESC	embryonic stem cell:	n/a	chr12:49454374-49454384
46	CHD2	chr12:49454189-49455006	K562	blood:	n/a	chr12:49454374-49454384
47	CHD2	chr12:49453852-49455056	GM12878	blood:	n/a	chr12:49454043-49454053 chr12:49454374-49454384
48	CHD2	chr12:49452942-49453041	GM12878	blood:	n/a	n/a
49	CHD2	chr12:49452851-49453196	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr12:49453587-49455138	Hela-S3	cervix:	n/a	chr12:49454043-49454053 chr12:49454374-49454384 chr12:49453842-49453852

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49453638-49453688	SK-N-SH_RA	brain:	n/a
2	chr12:49453638-49453688	SK-N-SH_RA	brain:	n/a
3	chr12:49453711-49453761	K562	blood:	n/a
4	chr12:49454455-49454505	Jurkat	blood:	n/a
5	chr12:49454455-49454505	T-47D	breast:	n/a
6	chr12:49453322-49453372	SK-N-SH	brain:	n/a
7	chr12:49454455-49454505	AG10803	skin:	n/a
8	chr12:49454806-49454856	SK-N-SH_RA	brain:	n/a
9	chr12:49454455-49454505	U87	brain:	n/a
10	chr12:49453322-49453372	MCF-7	breast:	n/a
11	chr12:49454761-49454811	BE2_C	brain:	n/a
12	chr12:49453638-49453688	HRPEpiC	eye:	n/a
13	chr12:49453638-49453688	SK-N-SH	brain:	n/a
14	chr12:49453711-49453761	GM19239	blood:	n/a
15	chr12:49453711-49453761	GM12891	blood:	n/a
16	chr12:49453322-49453372	LNCaP	prostate:	n/a
17	chr12:49453990-49454040	GM12892	blood:	n/a
18	chr12:49453322-49453372	HCM	heart:	n/a
19	chr12:49453711-49453761	U87	brain:	n/a
20	chr12:49454761-49454811	RPTEC	kidney:	n/a
21	chr12:49454455-49454505	SK-N-SH	brain:	n/a
22	chr12:49453322-49453372	IMR90	lung:	fetal
23	chr12:49454806-49454856	PrEC	prostate:	n/a
24	chr12:49453990-49454040	SK-N-SH	brain:	n/a
25	chr12:49453638-49453688	HPAEpiC	pulmonary alveolar:	n/a
26	chr12:49454455-49454505	PANC-1	pancreas:	n/a
27	chr12:49454761-49454811	ECC-1	luminal epithelium:	n/a
28	chr12:49454455-49454505	PrEC	prostate:	n/a
29	chr12:49453711-49453761	MCF-7	breast:	n/a
30	chr12:49454761-49454811	ovcar-3	ovarian:	n/a
31	chr12:49453711-49453761	Jurkat	blood:	n/a
32	chr12:49453638-49453688	HMEC	breast:	n/a
33	chr12:49453711-49453761	CMK	blood:	n/a
34	chr12:49453322-49453372	K562	blood:	n/a
35	chr12:49454761-49454811	HMEC	breast:	n/a
36	chr12:49453990-49454040	AG04449	skin:	fetal
37	chr12:49453711-49453761	AG09319	gingival:	n/a
38	chr12:49453638-49453688	NHBE	bronchial:	n/a
39	chr12:49454761-49454811	NHBE	bronchial:	n/a
40	chr12:49453638-49453688	BJ	skin:	n/a
41	chr12:49453990-49454040	SAEC	small airway:	n/a
42	chr12:49454455-49454505	IMR90	lung:	fetal
43	chr12:49453990-49454040	ECC-1	luminal epithelium:	n/a
44	chr12:49453711-49453761	HMEC	breast:	n/a
45	chr12:49453322-49453372	NB4	blood:	n/a
46	chr12:49453711-49453761	HRPEpiC	eye:	n/a
47	chr12:49453322-49453372	HPAEpiC	pulmonary alveolar:	n/a
48	chr12:49453638-49453688	Hela-S3	cervix:	n/a
49	chr12:49453990-49454040	H1-hESC	embryonic stem cell:	embryo
50	chr12:49453990-49454040	K562	blood:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:49409714..49416851-chr12:49447402..49455499,24	MCF-7	breast:
2	chr12:49365267..49367565-chr12:49453514..49456197,2	K562	blood:
3	chr12:49454377..49456128-chr12:49555146..49557266,2	K562	blood:
4	chr12:49454829..49457551-chr12:49626042..49628267,3	K562	blood:
5	chr12:49453309..49455961-chr12:49948897..49951747,2	MCF-7	breast:
6	chr12:49449335..49458365-chr12:49656751..49666981,25	K562	blood:
7	chr12:49454563..49455155-chr7:87848985..87849619,2	Hela-S3	cervix:
8	chr12:49454180..49454681-chr20:61492751..61493406,2	Hela-S3	cervix:
9	chr12:49452655..49454232-chr8:145150875..145152586,2	MCF-7	breast:
10	chr12:49454318..49454923-chr6:26033379..26034226,2	Hela-S3	cervix:
11	chr12:49453099..49454977-chr16:2313964..2316664,2	MCF-7	breast:
12	chr12:49448896..49462070-chr12:49656751..49663992,28	K562	blood:
13	chr12:49408338..49419708-chr12:49447252..49460551,38	K562	blood:
14	chr10:14920093..14920668-chr12:49454106..49455063,2	Hela-S3	cervix:
15	chr12:46765603..46767339-chr12:49452531..49455344,2	K562	blood:
16	chr12:49453107..49454677-chr12:49580973..49582766,2	K562	blood:
17	chr12:49407466..49416688-chr12:49451532..49456163,12	MCF-7	breast:
18	chr12:49449329..49454848-chr12:49480302..49484566,6	K562	blood:
19	chr12:49453755..49454637-chr17:27620969..27621882,2	Hela-S3	cervix:
20	chr12:49453813..49454416-chr9:130565063..130566058,2	Hela-S3	cervix:
21	chr1:144534155..144534667-chr12:49454018..49454864,2	Hela-S3	cervix:
22	chr12:49451583..49453085-chr12:49626794..49628619,2	K562	blood:
23	chr12:49453076..49457977-chr12:49485062..49491403,12	K562	blood:
24	chr12:49453115..49455291-chr12:49657846..49660975,4	MCF-7	breast:
25	chr12:49455381..49457675-chr12:49576315..49579055,2	MCF-7	breast:
26	chr12:49454021..49456179-chr12:49508366..49510938,2	K562	blood:
27	chr12:49446392..49469923-chr12:49518127..49527853,66	K562	blood:
28	chr12:49245786..49247623-chr12:49451692..49454310,2	MCF-7	breast:
29	chr12:49452631..49454255-chr12:49495979..49497484,2	MCF-7	breast:
30	chr12:49454177..49455905-chr12:49464920..49466529,2	MCF-7	breast:
31	chr12:49453587..49454404-chr12:49522959..49523795,2	Hela-S3	cervix:
32	chr12:49450480..49457103-chr12:49487982..49492074,8	K562	blood:
33	chr12:49440399..49469923-chr12:49518291..49528303,83	K562	blood:
34	chr12:49452588..49458658-chr12:49486666..49491439,6	MCF-7	breast:
35	chr12:49454044..49455042-chr7:74489029..74489605,2	Hela-S3	cervix:
36	chr12:49455426..49457775-chr12:49666001..49667624,2	MCF-7	breast:
37	chr12:49453688..49456279-chr12:49494326..49496673,3	K562	blood:
38	chr12:49451046..49453435-chr12:49498643..49501746,3	K562	blood:
39	chr12:49451508..49465481-chr12:49521303..49528986,40	MCF-7	breast:
40	chr12:49432703..49444457-chr12:49447982..49454860,15	MCF-7	breast:
41	chr12:49454631..49456849-chr12:49504734..49506537,2	K562	blood:
42	chr12:49454627..49456339-chr12:49470882..49473684,2	K562	blood:
43	chr12:49454083..49454754-chr13:107219633..107220526,2	Hela-S3	cervix:
44	chr12:49450455..49459531-chr12:49522374..49527837,16	MCF-7	breast:
45	chr12:49418054..49419744-chr12:49454256..49456208,2	MCF-7	breast:
46	chr12:49206889..49209222-chr12:49451651..49454239,2	MCF-7	breast:
47	chr12:49211350..49214001-chr12:49453993..49456972,2	MCF-7	breast:
48	chr12:49424813..49427751-chr12:49451760..49454466,2	MCF-7	breast:
49	chr12:49453979..49454864-chr5:82372935..82373905,2	Hela-S3	cervix:
50	chr12:49210248..49212975-chr12:49452451..49454269,2	MCF-7	breast:

No data

Variant related genes	Relation type
KMT2D	TF binding region
KMT2D	CpG island
ENSG00000137259	chromatin interactions
ENSG00000200309	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000181929	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000075142	chromatin interactions
ENSG00000179091	chromatin interactions
ENSG00000108256	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000152422	chromatin interactions
ENSG00000139636	chromatin interactions
ENSG00000139549	chromatin interactions
ENSG00000258232	chromatin interactions
ENSG00000135519	chromatin interactions
ENSG00000169884	chromatin interactions
ENSG00000167552	chromatin interactions
ENSG00000174695	chromatin interactions
ENSG00000174243	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000257346	chromatin interactions
ENSG00000134884	chromatin interactions
ENSG00000205937	chromatin interactions
ENSG00000101190	chromatin interactions
ENSG00000167535	chromatin interactions
ENSG00000136877	chromatin interactions
ENSG00000167548	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181099069	chr12:49452918-49452919	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs574030561	chr12:49452942-49452943	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs144539465	chr12:49452978-49452979	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs79148493	chr12:49452985-49452986	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs538485897	chr12:49453028-49453029	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs377256278	chr12:49453076-49453077	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs544845151	chr12:49453133-49453134	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs565005367	chr12:49453157-49453158	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs567943406	chr12:49453191-49453192	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs556490137	chr12:49453232-49453233	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs145042402	chr12:49453236-49453237	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs35906138	chr12:49453267-49453268	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs371999467	chr12:49453280-49453281	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs1897642	chr12:49453298-49453299	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs1897643	chr12:49453495-49453496	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
16	rs543805896	chr12:49453499-49453500	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
17	rs560539386	chr12:49453508-49453509	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
18	rs535470004	chr12:49453557-49453558	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs552455168	chr12:49453639-49453640	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs547253734	chr12:49453661-49453662	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs567028839	chr12:49453692-49453693	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs12582095	chr12:49453783-49453784	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
23	rs532755486	chr12:49453961-49453962	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
24	rs185396124	chr12:49453991-49453992	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
25	rs534037394	chr12:49454048-49454049	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
26	rs569377239	chr12:49454049-49454050	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
27	rs538340557	chr12:49454081-49454082	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
28	rs555042375	chr12:49454115-49454116	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
29	rs550322407	chr12:49454241-49454242	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
30	rs536577507	chr12:49454252-49454253	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
31	rs553253630	chr12:49454290-49454291	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
32	rs573016539	chr12:49454347-49454348	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
33	rs545195129	chr12:49454348-49454349	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
34	rs558418271	chr12:49454383-49454384	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
35	rs568907386	chr12:49454384-49454385	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
36	rs543890388	chr12:49454495-49454496	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
37	rs560581060	chr12:49454499-49454500	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
38	rs191695378	chr12:49454500-49454501	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
39	rs539813641	chr12:49454501-49454502	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
40	rs560849255	chr12:49454513-49454514	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
41	rs532649664	chr12:49454532-49454533	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
42	rs552785723	chr12:49454541-49454542	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
43	rs563061782	chr12:49454565-49454566	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
44	rs140029545	chr12:49454577-49454578	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
45	rs111884706	chr12:49454596-49454597	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
46	rs539542443	chr12:49454598-49454599	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
47	rs143539083	chr12:49454615-49454616	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
48	rs547431576	chr12:49454623-49454624	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
49	rs183654376	chr12:49454711-49454712	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
50	rs538552421	chr12:49454814-49454815	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD

Chromatin state (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49413000-49453400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:49449200-49454200	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr12:49449400-49453200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr12:49449400-49453400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:49449400-49453400	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr12:49449400-49453600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:49449400-49453800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:49449600-49453000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:49449600-49453000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr12:49449600-49453000	Flanking Active TSS	HUVEC	blood vessel
11	chr12:49449600-49453200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:49449600-49453200	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr12:49449600-49453200	Flanking Active TSS	Fetal Brain Female	brain
14	chr12:49449600-49453400	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr12:49449800-49453000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr12:49449800-49453000	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr12:49449800-49453000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr12:49449800-49453000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr12:49449800-49453200	Flanking Active TSS	Osteobl	bone
20	chr12:49449800-49453400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr12:49449800-49453800	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr12:49450000-49453000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr12:49450000-49453200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr12:49450000-49453600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr12:49450200-49455200	Active TSS	HSMMtube	muscle
26	chr12:49450400-49453000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:49450400-49453000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:49450400-49453200	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr12:49450400-49453400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:49450400-49453400	Flanking Active TSS	Right Ventricle	heart
31	chr12:49450600-49453000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr12:49450600-49453200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:49450600-49453600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr12:49450800-49453200	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr12:49450800-49453200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr12:49450800-49453400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:49450800-49455400	Active TSS	Fetal Kidney	kidney
38	chr12:49451000-49453000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:49451000-49453200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:49451000-49453200	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr12:49451000-49453200	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr12:49451000-49453200	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr12:49451000-49453400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr12:49451000-49453400	Flanking Active TSS	Fetal Thymus	thymus
45	chr12:49451000-49453400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr12:49451200-49453000	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr12:49451200-49453200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:49451200-49453400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:49451200-49453400	Flanking Active TSS	Fetal Brain Male	brain
50	chr12:49451200-49453400	Flanking Active TSS	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links