Variant report

Variant	esv1838306
Chromosome Location	chr12:40499495-40527395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:40501338-40501674	HepG2	liver:	n/a	n/a
2	ATF2	chr12:40511589-40512134	GM12878	blood:	n/a	n/a
3	ATF2	chr12:40511602-40512071	GM12878	blood:	n/a	n/a
4	ATF3	chr12:40499744-40499987	K562	blood:	n/a	chr12:40499976-40499985
5	ATF3	chr12:40501298-40501737	A549	lung:	n/a	n/a
6	BACH1	chr12:40499710-40499852	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr12:40511643-40512006	GM12878	blood:	n/a	n/a
8	BATF	chr12:40511607-40511993	GM12878	blood:	n/a	n/a
9	BCL11A	chr12:40511628-40512004	GM12878	blood:	n/a	n/a
10	BCLAF1	chr12:40511651-40511942	GM12878	blood:	n/a	n/a
11	BCLAF1	chr12:40501287-40501707	GM12878	blood:	n/a	chr12:40501449-40501458
12	BCLAF1	chr12:40511645-40512023	GM12878	blood:	n/a	n/a
13	BHLHE40	chr12:40501287-40502380	GM12878	blood:	n/a	chr12:40502192-40502208
14	BHLHE40	chr12:40498650-40500176	HepG2	liver:	n/a	chr12:40499900-40499909
15	BHLHE40	chr12:40499148-40500152	GM12878	blood:	n/a	chr12:40499900-40499909
16	BHLHE40	chr12:40498581-40500322	K562	blood:	n/a	chr12:40499900-40499909
17	BHLHE40	chr12:40499729-40500060	HepG2	liver:	n/a	chr12:40499900-40499909
18	BHLHE40	chr12:40499733-40500047	A549	lung:	n/a	chr12:40499900-40499909
19	CBX3	chr12:40501280-40501697	K562	blood:	n/a	n/a
20	CCNT2	chr12:40498953-40500070	K562	blood:	n/a	n/a
21	CEBPB	chr12:40517338-40517663	Hela-S3	cervix:	n/a	chr12:40517645-40517657
22	CEBPB	chr12:40517397-40517597	HepG2	liver:	n/a	n/a
23	CEBPB	chr12:40499734-40500440	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr12:40517339-40517624	A549	lung:	n/a	n/a
25	CEBPB	chr12:40501016-40501656	Hela-S3	cervix:	n/a	n/a
26	CEBPD	chr12:40499709-40499945	HepG2	liver:	n/a	n/a
27	CEBPD	chr12:40501231-40501696	K562	blood:	n/a	n/a
28	CHD1	chr12:40499504-40499654	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD1	chr12:40499382-40499523	GM12878	blood:	n/a	n/a
30	CHD2	chr12:40499445-40499943	GM12878	blood:	n/a	chr12:40499881-40499891 chr12:40499847-40499857
31	CHD2	chr12:40498701-40500266	Hela-S3	cervix:	n/a	chr12:40498850-40498860 chr12:40499881-40499891 chr12:40499847-40499857
32	CHD2	chr12:40499657-40499819	HepG2	liver:	n/a	n/a
33	CHD2	chr12:40499108-40499848	K562	blood:	n/a	n/a
34	CHD2	chr12:40500019-40500213	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr12:40499005-40500250	HepG2	liver:	n/a	n/a
36	CREB1	chr12:40499023-40499614	A549	lung:	n/a	n/a
37	CREB1	chr12:40499618-40500115	A549	lung:	n/a	n/a
38	CTCF	chr12:40499538-40499548	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr12:40500968-40500998	Spleen_OC	spleen:	n/a	n/a
40	CTCF	chr12:40501402-40501641	Hela-S3	cervix:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
41	CTCF	chr12:40499805-40499902	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr12:40501366-40501675	HUVEC	blood vessel:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
43	CTCF	chr12:40501460-40501610	HPF	lung:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
44	CTCF	chr12:40501460-40501610	AG10803	skin:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
45	CTCF	chr12:40501440-40501590	SK-N-SH_RA	brain:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
46	CTCF	chr12:40501460-40501610	GM12869	blood:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
47	CTCF	chr12:40500840-40500990	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr12:40500940-40501090	GM06990	blood:	n/a	n/a
49	CTCF	chr12:40501460-40501610	HMF	breast:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
50	CTCF	chr12:40501321-40501671	HepG2	liver:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:40499811-40499861	HMEC	breast:	n/a
2	chr12:40499623-40499673	HIPEpiC	eye:	n/a
3	chr12:40500016-40500066	Caco-2	colon:	n/a
4	chr12:40500016-40500066	U87	brain:	n/a
5	chr12:40500619-40500669	PrEC	prostate:	n/a
6	chr12:40499947-40499997	AoSMC	blood vessel:	n/a
7	chr12:40500139-40500189	NHDF-neo	bronchial:	n/a
8	chr12:40500016-40500066	HRCEpiC	kidney:	n/a
9	chr12:40503038-40503088	ProgFib	skin:	n/a
10	chr12:40500139-40500189	GM12892	blood:	n/a
11	chr12:40499947-40499997	NB4	blood:	n/a
12	chr12:40503038-40503088	HepG2	liver:	n/a
13	chr12:40499623-40499673	H1-hESC	embryonic stem cell:	embryo
14	chr12:40500016-40500066	HIPEpiC	eye:	n/a
15	chr12:40499811-40499861	A549	lung:	n/a
16	chr12:40500016-40500066	HCF	heart:	n/a
17	chr12:40500016-40500066	PANC-1	pancreas:	n/a
18	chr12:40499811-40499861	GM19239	blood:	n/a
19	chr12:40500619-40500669	SKMC	muscle:	n/a
20	chr12:40500619-40500669	LNCaP	prostate:	n/a
21	chr12:40500139-40500189	IMR90	lung:	fetal
22	chr12:40500619-40500669	NH-A	brain:	n/a
23	chr12:40503038-40503088	HUVEC	blood vessel:	n/a
24	chr12:40500139-40500189	AG04450	lung:	fetal
25	chr12:40499947-40499997	HNPCEpiC	eye:	n/a
26	chr12:40500139-40500189	CMK	blood:	n/a
27	chr12:40500619-40500669	MCF10A-Er-Src	breast:	n/a
28	chr12:40499623-40499673	HL-60	blood:	n/a
29	chr12:40499947-40499997	HCF	heart:	n/a
30	chr12:40500619-40500669	H1-hESC	embryonic stem cell:	embryo
31	chr12:40499947-40499997	AG09319	gingival:	n/a
32	chr12:40499947-40499997	HUVEC	blood vessel:	n/a
33	chr12:40499947-40499997	BJ	skin:	n/a
34	chr12:40499623-40499673	K562	blood:	n/a
35	chr12:40500016-40500066	IMR90	lung:	fetal
36	chr12:40500619-40500669	GM12878	blood:	n/a
37	chr12:40499623-40499673	AG04450	lung:	fetal
38	chr12:40499947-40499997	HCPEpiC	choroid plexus:	n/a
39	chr12:40500016-40500066	SAEC	small airway:	n/a
40	chr12:40500619-40500669	AG04449	skin:	fetal
41	chr12:40500139-40500189	NB4	blood:	n/a
42	chr12:40499811-40499861	NB4	blood:	n/a
43	chr12:40499947-40499997	HRCEpiC	kidney:	n/a
44	chr12:40503038-40503088	IMR90	lung:	fetal
45	chr12:40499623-40499673	PrEC	prostate:	n/a
46	chr12:40503038-40503088	AG10803	skin:	n/a
47	chr12:40499811-40499861	PANC-1	pancreas:	n/a
48	chr12:40503038-40503088	LNCaP	prostate:	n/a
49	chr12:40499811-40499861	HCM	heart:	n/a
50	chr12:40503038-40503088	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:40158505..40159798-chr12:40501059..40502327,6	MCF-7	breast:
2	chr12:40158518..40159407-chr12:40501012..40501936,2	K562	blood:
3	12:40517820-40521124..12:40703633-40711447	GM12878	blood:
4	chr12:40404668..40405271-chr12:40503732..40504617,2	MCF-7	breast:
5	chr11:62607295..62609623-chr12:40497021..40499693,2	MCF-7	breast:
6	chr12:40520984..40522789-chr12:40525869..40527665,2	K562	blood:
7	chr12:40471822..40473887-chr12:40503085..40505946,2	K562	blood:
8	chr12:40404779..40405544-chr12:40501079..40501769,2	K562	blood:
9	chr12:39835235..39837376-chr12:40497652..40499874,2	K562	blood:
10	chr12:40413403..40416172-chr12:40500145..40501731,2	K562	blood:
11	chr12:40520984..40522789-chr12:40525869..40527665,2	K562	blood:
12	chr12:40526853..40529105-chr12:40530805..40532717,2	MCF-7	breast:
13	chr12:40404217..40405558-chr12:40500388..40503110,15	MCF-7	breast:
14	12:40525880-40532672..12:40703633-40711447	GM12878	blood:
15	chr12:40425798..40426494-chr12:40501097..40501912,2	MCF-7	breast:

Variant related genes	Relation type
SLC2A13	TF binding region
SLC2A13	CpG island
ENSG00000188906	chromatin interactions
ENSG00000139116	chromatin interactions
ENSG00000252974	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 684 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35486972	chr12:40499497-40499498	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs139518863	chr12:40499594-40499595	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs34919942	chr12:40499621-40499622	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs536379760	chr12:40499624-40499625	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs7305766	chr12:40499639-40499640	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs34759276	chr12:40499729-40499730	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs34244190	chr12:40499739-40499740	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs35857045	chr12:40499742-40499743	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs573176212	chr12:40499747-40499748	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs35178567	chr12:40499748-40499749	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs540886340	chr12:40499768-40499769	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs35966761	chr12:40499800-40499801	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs34600171	chr12:40499803-40499804	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs565245896	chr12:40499820-40499821	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs35246389	chr12:40499822-40499823	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs576976056	chr12:40499827-40499828	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs544397026	chr12:40499828-40499829	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562777417	chr12:40499840-40499841	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs34612144	chr12:40499853-40499854	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs530501316	chr12:40499884-40499885	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548826830	chr12:40499889-40499890	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs560904969	chr12:40499891-40499892	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs528087225	chr12:40499930-40499931	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs116921319	chr12:40499944-40499945	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs571565108	chr12:40499957-40499958	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs34397399	chr12:40499970-40499971	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs532492407	chr12:40499971-40499972	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs551818377	chr12:40499981-40499982	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs569098774	chr12:40500004-40500005	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs567043695	chr12:40500059-40500060	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs35387671	chr12:40500109-40500110	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs536720169	chr12:40500140-40500141	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs554779134	chr12:40500176-40500177	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs534168972	chr12:40500189-40500190	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs566816650	chr12:40500190-40500191	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs78917199	chr12:40500195-40500196	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs74089003	chr12:40500314-40500315	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs191096050	chr12:40500372-40500373	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs544532980	chr12:40500380-40500381	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs372767982	chr12:40500405-40500406	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs556312012	chr12:40500502-40500503	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs574949677	chr12:40500540-40500541	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs542666842	chr12:40500548-40500549	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs560825661	chr12:40500616-40500617	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs183494995	chr12:40500704-40500705	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs528238527	chr12:40500709-40500710	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs539840687	chr12:40500729-40500730	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs186759063	chr12:40500762-40500763	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs192063908	chr12:40500813-40500814	Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs377373850	chr12:40500840-40500841	Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40496800-40500400	Active TSS	Stomach Smooth Muscle	stomach
2	chr12:40496800-40501600	Active TSS	Brain Cingulate Gyrus	brain
3	chr12:40496800-40501600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:40496800-40501600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:40497000-40500200	Active TSS	Brain Angular Gyrus	brain
6	chr12:40497000-40501600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr12:40497000-40501600	Active TSS	Fetal Kidney	kidney
8	chr12:40497200-40502200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:40497400-40500000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:40497400-40501600	Active TSS	Right Atrium	heart
11	chr12:40497600-40500400	Active TSS	Fetal Brain Female	brain
12	chr12:40497800-40500200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:40497800-40500400	Active TSS	Brain Hippocampus Middle	brain
14	chr12:40497800-40500600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:40497800-40501400	Active TSS	Brain Substantia Nigra	brain
16	chr12:40497800-40501400	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr12:40498000-40499600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr12:40498000-40500000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:40498000-40500200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr12:40498000-40500400	Active TSS	Colon Smooth Muscle	Colon
21	chr12:40498000-40500800	Active TSS	Rectal Smooth Muscle	rectum
22	chr12:40498000-40501600	Active TSS	Ovary	ovary
23	chr12:40498200-40500000	Active TSS	Fetal Intestine Large	intestine
24	chr12:40498200-40500200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:40498200-40500200	Active TSS	A549	lung
26	chr12:40498200-40501800	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr12:40498200-40501800	Active TSS	NHLF	lung
28	chr12:40498400-40499800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr12:40498400-40501600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:40498600-40500000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:40498600-40500000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:40498600-40500000	Active TSS	Placenta Amnion	Placenta Amnion
33	chr12:40498600-40500200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:40498600-40500200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:40498600-40500200	Enhancers	Fetal Brain Male	brain
36	chr12:40498600-40500200	Active TSS	Small Intestine	intestine
37	chr12:40498600-40500400	Active TSS	HSMM	muscle
38	chr12:40498600-40500400	Active TSS	HSMMtube	muscle
39	chr12:40498600-40501600	Active TSS	Aorta	Aorta
40	chr12:40498800-40499600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr12:40498800-40500000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:40498800-40500000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:40498800-40500000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:40498800-40500000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr12:40498800-40500000	Active TSS	Gastric	stomach
46	chr12:40498800-40500000	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr12:40498800-40500000	Active TSS	Hela-S3	cervix
48	chr12:40498800-40500000	Active TSS	K562	blood
49	chr12:40498800-40500200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:40498800-40500200	Active TSS	Fetal Lung	lung

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