Variant report

Variant	esv3498630
Chromosome Location	chr12:121124863-121129114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:663)
CpG islands
(count:549)
Chromatin interactive
region (count:35)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:121124549-121124863	K562	blood:	n/a	n/a
2	ARID3A	chr12:121125833-121126010	K562	blood:	n/a	n/a
3	ARID3A	chr12:121124299-121125000	HepG2	liver:	n/a	n/a
4	ATF1	chr12:121124139-121124981	K562	blood:	n/a	n/a
5	ATF2	chr12:121123807-121124929	GM12878	blood:	n/a	n/a
6	ATF2	chr12:121124176-121124899	GM12878	blood:	n/a	n/a
7	ATF3	chr12:121124358-121124914	A549	lung:	n/a	chr12:121124358-121124367
8	ATF3	chr12:121124378-121124882	A549	lung:	n/a	n/a
9	BACH1	chr12:121123956-121125064	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr12:121123941-121125037	GM12878	blood:	n/a	chr12:121124907-121124920 chr12:121124597-121124606 chr12:121124838-121124851 chr12:121124208-121124217
11	BCL3	chr12:121124273-121124943	A549	lung:	n/a	chr12:121124907-121124920 chr12:121124597-121124606 chr12:121124838-121124851
12	BCLAF1	chr12:121123885-121125024	GM12878	blood:	n/a	chr12:121124907-121124920 chr12:121124597-121124606 chr12:121124838-121124851 chr12:121124208-121124217
13	BCLAF1	chr12:121124345-121124949	K562	blood:	n/a	chr12:121124907-121124920 chr12:121124597-121124606 chr12:121124838-121124851
14	BCLAF1	chr12:121123891-121125045	GM12878	blood:	n/a	chr12:121124907-121124920 chr12:121124597-121124606 chr12:121124838-121124851 chr12:121124208-121124217
15	BHLHE40	chr12:121123908-121126328	GM12878	blood:	n/a	chr12:121125389-121125405 chr12:121125383-121125399
16	BHLHE40	chr12:121125767-121126080	A549	lung:	n/a	n/a
17	BHLHE40	chr12:121123969-121126324	K562	blood:	n/a	chr12:121125389-121125405 chr12:121125383-121125399
18	BHLHE40	chr12:121124131-121125363	HepG2	liver:	n/a	n/a
19	BHLHE40	chr12:121125680-121126129	HepG2	liver:	n/a	n/a
20	BRCA1	chr12:121126598-121126809	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr12:121124295-121124887	GM12878	blood:	n/a	n/a
22	BRCA1	chr12:121123883-121124977	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr12:121123893-121125111	K562	blood:	n/a	n/a
24	CCNT2	chr12:121124007-121125535	K562	blood:	n/a	chr12:121124358-121124367 chr12:121124352-121124361
25	CEBPB	chr12:121127161-121127482	HepG2	liver:	n/a	chr12:121127328-121127339
26	CEBPB	chr12:121125097-121125149	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr12:121127232-121127479	H1-hESC	embryonic stem cell:	n/a	chr12:121127328-121127339
28	CEBPB	chr12:121124137-121124921	GM12878	blood:	n/a	chr12:121124880-121124888 chr12:121124823-121124831
29	CEBPB	chr12:121127203-121127460	K562	blood:	n/a	chr12:121127328-121127339
30	CEBPD	chr12:121124333-121125131	K562	blood:	n/a	n/a
31	CEBPD	chr12:121124005-121125205	HepG2	liver:	n/a	n/a
32	CHD1	chr12:121125704-121125868	H1-hESC	embryonic stem cell:	n/a	chr12:121125828-121125838
33	CHD1	chr12:121123842-121126239	GM12878	blood:	n/a	chr12:121125828-121125838
34	CHD2	chr12:121123937-121125093	GM12878	blood:	n/a	n/a
35	CHD2	chr12:121123949-121125018	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr12:121123986-121125382	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr12:121123986-121125065	K562	blood:	n/a	n/a
38	CHD2	chr12:121125933-121125982	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr12:121124040-121124985	HepG2	liver:	n/a	n/a
40	CREB1	chr12:121123923-121125172	GM12878	blood:	n/a	n/a
41	CREB1	chr12:121123994-121125125	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr12:121123955-121125138	K562	blood:	n/a	n/a
43	CREB1	chr12:121124473-121124918	A549	lung:	n/a	n/a
44	CREB1	chr12:121123954-121125360	A549	lung:	n/a	n/a
45	CREB1	chr12:121123864-121125165	HepG2	liver:	n/a	n/a
46	CREB1	chr12:121123987-121125093	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr12:121123835-121125399	HepG2	liver:	n/a	n/a
48	CTCF	chr12:121124655-121124876	GM19240	blood:	n/a	chr12:121124836-121124849 chr12:121124755-121124773 chr12:121124836-121124849 chr12:121124757-121124770
49	CTCF	chr12:121125821-121125976	GM12878	blood:	n/a	n/a
50	CTCF	chr12:121124617-121124952	IMR90	lung:	n/a	chr12:121124836-121124849 chr12:121124755-121124773 chr12:121124836-121124849 chr12:121124757-121124770

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121125356-121125406	NH-A	brain:	n/a
2	chr12:121125356-121125406	HMEC	breast:	n/a
3	chr12:121125731-121125781	HL-60	blood:	n/a
4	chr12:121125731-121125781	HUVEC	blood vessel:	n/a
5	chr12:121125731-121125781	A549	lung:	n/a
6	chr12:121124877-121124927	H1-hESC	embryonic stem cell:	embryo
7	chr12:121125137-121125187	LNCaP	prostate:	n/a
8	chr12:121125837-121125887	NT2-D1	testis:	n/a
9	chr12:121125356-121125406	AoSMC	blood vessel:	n/a
10	chr12:121125137-121125187	ProgFib	skin:	n/a
11	chr12:121124913-121124963	HMEC	breast:	n/a
12	chr12:121125837-121125887	GM19239	blood:	n/a
13	chr12:121125837-121125887	ProgFib	skin:	n/a
14	chr12:121124893-121124943	NHDF-neo	bronchial:	n/a
15	chr12:121128268-121128318	HUVEC	blood vessel:	n/a
16	chr12:121124913-121124963	AoSMC	blood vessel:	n/a
17	chr12:121124951-121125001	ECC-1	luminal epithelium:	n/a
18	chr12:121125137-121125187	GM12892	blood:	n/a
19	chr12:121124913-121124963	Hela-S3	cervix:	n/a
20	chr12:121124913-121124963	NT2-D1	testis:	n/a
21	chr12:121128268-121128318	AG10803	skin:	n/a
22	chr12:121125356-121125406	SK-N-SH_RA	brain:	n/a
23	chr12:121124893-121124943	H1-hESC	embryonic stem cell:	embryo
24	chr12:121124913-121124963	IMR90	lung:	fetal
25	chr12:121124877-121124927	HCT-116	colon:	n/a
26	chr12:121128268-121128318	MCF-7	breast:	n/a
27	chr12:121125137-121125187	NH-A	brain:	n/a
28	chr12:121125137-121125187	AG09309	skin:	n/a
29	chr12:121125731-121125781	PrEC	prostate:	n/a
30	chr12:121124951-121125001	MCF10A-Er-Src	breast:	n/a
31	chr12:121125731-121125781	HepG2	liver:	n/a
32	chr12:121124877-121124927	ovcar-3	ovarian:	n/a
33	chr12:121125837-121125887	ECC-1	luminal epithelium:	n/a
34	chr12:121125731-121125781	AG10803	skin:	n/a
35	chr12:121124913-121124963	GM12892	blood:	n/a
36	chr12:121125137-121125187	BE2_C	brain:	n/a
37	chr12:121124877-121124927	IMR90	lung:	fetal
38	chr12:121125137-121125187	NHBE	bronchial:	n/a
39	chr12:121125356-121125406	Caco-2	colon:	n/a
40	chr12:121125137-121125187	CMK	blood:	n/a
41	chr12:121125837-121125887	HAEpiC	amniotic membrane:	n/a
42	chr12:121125731-121125781	PANC-1	pancreas:	n/a
43	chr12:121125137-121125187	PrEC	prostate:	n/a
44	chr12:121125356-121125406	GM12892	blood:	n/a
45	chr12:121125837-121125887	HMEC	breast:	n/a
46	chr12:121124913-121124963	GM06990	blood:	n/a
47	chr12:121124913-121124963	HRE	kidney:	n/a
48	chr12:121125837-121125887	SK-N-SH_RA	brain:	n/a
49	chr12:121124913-121124963	U87	brain:	n/a
50	chr12:121124893-121124943	PrEC	prostate:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121123292..121126341-chr12:121146632..121149740,5	MCF-7	breast:
2	chr12:121017632..121023235-chr12:121123750..121127979,5	K562	blood:
3	chr12:121125051..121127006-chr12:121446339..121449228,2	MCF-7	breast:
4	chr12:121124509..121126833-chr12:121162138..121164295,2	K562	blood:
5	chr12:121122617..121126013-chr12:121146742..121149972,4	MCF-7	breast:
6	chr12:121092373..121094051-chr12:121128187..121130355,2	MCF-7	breast:
7	chr12:121123033..121125000-chr12:121205934..121208435,2	K562	blood:
8	chr12:121085923..121088804-chr12:121121977..121126483,5	MCF-7	breast:
9	chr12:121127233..121131774-chr12:121146015..121149455,5	MCF-7	breast:
10	chr12:121122826..121126231-chr12:121135368..121138328,4	MCF-7	breast:
11	chr12:121083460..121086406-chr12:121125581..121127490,2	K562	blood:
12	chr12:121095512..121100910-chr12:121122531..121126551,5	MCF-7	breast:
13	chr12:121124457..121126009-chr12:121161896..121164295,2	K562	blood:
14	chr12:120875946..120878903-chr12:121123173..121125911,2	K562	blood:
15	chr12:121126318..121128176-chr12:121135786..121137880,3	MCF-7	breast:
16	chr12:121128598..121131378-chr12:121142040..121143642,2	K562	blood:
17	chr12:121128710..121131143-chr12:121131360..121132906,2	MCF-7	breast:
18	chr1:149858472..149859038-chr12:121127263..121127885,2	Hela-S3	cervix:
19	chr12:120630041..120632673-chr12:121124063..121125965,2	MCF-7	breast:
20	chr11:62608326..62609320-chr12:121124933..121125757,2	MCF-7	breast:
21	chr12:121125134..121127601-chr20:52821438..52823168,2	MCF-7	breast:
22	chr12:120728399..120731246-chr12:121124112..121127371,3	MCF-7	breast:
23	chr12:121125276..121128582-chr12:121139011..121141679,3	MCF-7	breast:
24	chr12:121122969..121126872-chr12:121145365..121151601,10	K562	blood:
25	chr12:121020078..121022631-chr12:121125640..121127142,2	K562	blood:
26	chr12:121077855..121079516-chr12:121124357..121126482,2	MCF-7	breast:
27	chr12:121126786..121129760-chr12:121147311..121149770,4	MCF-7	breast:
28	chr12:121083368..121085683-chr12:121126949..121129432,2	MCF-7	breast:
29	chr12:121008513..121011933-chr12:121126000..121127892,3	MCF-7	breast:
30	chr12:121115639..121118008-chr12:121125789..121128419,2	K562	blood:
31	chr12:121124788..121125493-chr14:24604549..24605433,2	NB4	blood:
32	chr12:121018631..121021385-chr12:121124185..121125689,2	MCF-7	breast:
33	chr12:121085946..121088715-chr12:121122622..121126229,3	K562	blood:
34	chr10:99093772..99095545-chr12:121124812..121127214,2	MCF-7	breast:
35	chr12:121122674..121127779-chr12:121131254..121137297,11	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPPL3.1-4	chr12:121124950-121126702	NONHSAT031190

No data

Variant related genes	Relation type
MLEC	TF binding region
MLEC	CpG island
ENSG00000200795	chromatin interactions
ENSG00000157895	chromatin interactions
ENSG00000111780	chromatin interactions
ENSG00000157782	chromatin interactions
ENSG00000089154	chromatin interactions
ENSG00000181274	chromatin interactions
ENSG00000157837	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000225850	chromatin interactions
ENSG00000122971	chromatin interactions
ENSG00000167272	chromatin interactions
ENSG00000092010	chromatin interactions
ENSG00000256364	chromatin interactions
ENSG00000256008	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000110917	chromatin interactions
ENSG00000175970	chromatin interactions
ENSG00000111775	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59228775	chr12:121124865-121124866	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
2	rs553587219	chr12:121124872-121124873	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs151126608	chr12:121124901-121124902	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs537207735	chr12:121124944-121124945	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
5	rs189117487	chr12:121124960-121124961	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
6	rs540039541	chr12:121124979-121124980	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
7	rs544974383	chr12:121124980-121124981	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
8	rs558585649	chr12:121124990-121124991	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
9	rs949443	chr12:121124991-121124992	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369743646	chr12:121125033-121125034	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
11	rs550138992	chr12:121125116-121125117	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
12	rs540906166	chr12:121125117-121125118	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
13	rs181506797	chr12:121125141-121125142	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
14	rs375755832	chr12:121125215-121125216	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
15	rs373497641	chr12:121125220-121125221	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
16	rs529431870	chr12:121125221-121125222	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
17	rs199744373	chr12:121125243-121125244	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
18	rs369846032	chr12:121125311-121125312	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
19	rs374055843	chr12:121125324-121125325	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
20	rs543114284	chr12:121125345-121125346	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
21	rs141074486	chr12:121125352-121125353	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
22	rs531686954	chr12:121125357-121125358	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
23	rs370995912	chr12:121125366-121125367	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
24	rs551399746	chr12:121125425-121125426	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
25	rs185613574	chr12:121125467-121125468	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
26	rs190026156	chr12:121125473-121125474	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
27	rs547349053	chr12:121125507-121125508	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
28	rs542540099	chr12:121125781-121125782	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
29	rs536019616	chr12:121125830-121125831	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
30	rs556226696	chr12:121125834-121125835	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
31	rs183162267	chr12:121125843-121125844	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
32	rs538729780	chr12:121125891-121125892	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
33	rs376982122	chr12:121125932-121125933	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
34	rs149828310	chr12:121125971-121125972	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
35	rs35684335	chr12:121125972-121125973	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
36	rs572042774	chr12:121125974-121125975	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
37	rs186017499	chr12:121126005-121126006	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
38	rs190884838	chr12:121126007-121126008	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
39	rs34794960	chr12:121126041-121126042	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
40	rs574177862	chr12:121126050-121126051	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
41	rs542896186	chr12:121126059-121126060	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
42	rs183908524	chr12:121126081-121126082	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
43	rs531724410	chr12:121126091-121126092	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
44	rs545078569	chr12:121126101-121126102	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
45	rs564962506	chr12:121126145-121126146	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
46	rs527646520	chr12:121126158-121126159	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
47	rs368476061	chr12:121126196-121126197	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
48	rs34586917	chr12:121126204-121126205	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
49	rs572102480	chr12:121126264-121126265	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
50	rs547682094	chr12:121126265-121126266	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121123600-121125600	Active TSS	Fetal Brain Female	brain
2	chr12:121123600-121125800	Active TSS	K562	blood
3	chr12:121123600-121126000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:121123600-121126400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:121123600-121126600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr12:121123600-121126600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:121123600-121126600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:121123600-121127000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:121123600-121127000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:121123800-121125000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:121123800-121125000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:121123800-121125400	Active TSS	Brain Cingulate Gyrus	brain
13	chr12:121123800-121125600	Active TSS	Brain Angular Gyrus	brain
14	chr12:121123800-121125600	Active TSS	Brain Germinal Matrix	brain
15	chr12:121123800-121125600	Active TSS	Brain Substantia Nigra	brain
16	chr12:121123800-121125600	Active TSS	Placenta	Placenta
17	chr12:121123800-121125800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:121123800-121125800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:121123800-121125800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:121123800-121125800	Active TSS	Brain Hippocampus Middle	brain
21	chr12:121123800-121125800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr12:121123800-121125800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:121123800-121125800	Active TSS	Rectal Smooth Muscle	rectum
24	chr12:121123800-121125800	Active TSS	HSMMtube	muscle
25	chr12:121123800-121126000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:121123800-121126000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:121123800-121126000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:121123800-121126000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:121123800-121126000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:121123800-121126000	Active TSS	Colon Smooth Muscle	Colon
31	chr12:121123800-121126000	Active TSS	Fetal Kidney	kidney
32	chr12:121123800-121126000	Active TSS	Right Ventricle	heart
33	chr12:121123800-121126000	Active TSS	Thymus	Thymus
34	chr12:121123800-121126200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:121123800-121126200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr12:121123800-121126200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:121123800-121126200	Active TSS	NHEK	skin
38	chr12:121123800-121126400	Active TSS	NHLF	lung
39	chr12:121123800-121126600	Active TSS	Aorta	Aorta
40	chr12:121123800-121126600	Active TSS	Left Ventricle	heart
41	chr12:121123800-121126600	Active TSS	Ovary	ovary
42	chr12:121123800-121126600	Active TSS	Psoas Muscle	Psoas
43	chr12:121123800-121126600	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr12:121123800-121126600	Active TSS	Small Intestine	intestine
45	chr12:121123800-121126800	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr12:121123800-121126800	Active TSS	H1 Cell Line	embryonic stem cell
47	chr12:121123800-121126800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:121123800-121127000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:121123800-121127000	Active TSS	H9 Cell Line	embryonic stem cell
50	chr12:121123800-121127000	Active TSS	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links