Variant report

Variant	nsv874150
Chromosome Location	chr2:54684557-54755229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1398)
CpG islands
(count:794)
Chromatin interactive
region (count:43)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1398 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54749885-54750209	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:54730476-54730668	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:54725256-54725814	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:54749988-54750074	K562	blood:	n/a	n/a
5	ARID3A	chr2:54724023-54724223	K562	blood:	n/a	n/a
6	ARID3A	chr2:54703087-54703138	K562	blood:	n/a	n/a
7	ATF1	chr2:54706616-54706930	K562	blood:	n/a	n/a
8	ATF2	chr2:54749783-54750154	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr2:54751729-54752304	GM12878	blood:	n/a	n/a
10	ATF2	chr2:54751708-54752194	GM12878	blood:	n/a	n/a
11	BACH1	chr2:54684594-54684782	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr2:54751817-54752113	GM12878	blood:	n/a	chr2:54751986-54751997
13	BATF	chr2:54751806-54752125	GM12878	blood:	n/a	chr2:54751986-54751997
14	BATF	chr2:54698284-54698562	GM12878	blood:	n/a	n/a
15	BATF	chr2:54698249-54698575	GM12878	blood:	n/a	n/a
16	BCL11A	chr2:54751845-54752086	GM12878	blood:	n/a	n/a
17	BCL11A	chr2:54707184-54707441	GM12878	blood:	n/a	n/a
18	BCL11A	chr2:54751839-54752175	GM12878	blood:	n/a	n/a
19	BCL3	chr2:54698402-54698955	A549	lung:	n/a	n/a
20	BCLAF1	chr2:54749808-54750237	GM12878	blood:	n/a	n/a
21	BCLAF1	chr2:54751797-54752138	GM12878	blood:	n/a	n/a
22	BCLAF1	chr2:54751750-54752202	GM12878	blood:	n/a	n/a
23	BHLHE40	chr2:54751814-54752202	GM12878	blood:	n/a	n/a
24	BHLHE40	chr2:54698343-54698529	GM12878	blood:	n/a	n/a
25	BHLHE40	chr2:54749886-54750154	K562	blood:	n/a	n/a
26	BHLHE40	chr2:54751866-54752066	K562	blood:	n/a	n/a
27	BHLHE40	chr2:54749866-54750245	GM12878	blood:	n/a	n/a
28	BHLHE40	chr2:54720972-54721188	K562	blood:	n/a	chr2:54721058-54721067 chr2:54721053-54721074 chr2:54721059-54721068 chr2:54721059-54721068 chr2:54721060-54721069 chr2:54721057-54721070
29	BRCA1	chr2:54749906-54750136	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr2:54694255-54694289	GM12878	blood:	n/a	n/a
31	CCNT2	chr2:54730590-54730790	K562	blood:	n/a	n/a
32	CEBPB	chr2:54739706-54739723	A549	lung:	n/a	n/a
33	CEBPB	chr2:54727660-54727796	Hela-S3	cervix:	n/a	chr2:54727738-54727749
34	CEBPB	chr2:54696058-54696135	IMR90	lung:	n/a	n/a
35	CEBPB	chr2:54731978-54732347	IMR90	lung:	n/a	chr2:54732074-54732087
36	CEBPB	chr2:54698490-54698870	IMR90	lung:	n/a	n/a
37	CEBPB	chr2:54706671-54706914	A549	lung:	n/a	n/a
38	CEBPB	chr2:54706520-54707016	K562	blood:	n/a	n/a
39	CEBPB	chr2:54698512-54698840	HepG2	liver:	n/a	n/a
40	CEBPB	chr2:54727651-54727792	K562	blood:	n/a	chr2:54727738-54727749
41	CEBPB	chr2:54688395-54688658	HepG2	liver:	n/a	n/a
42	CEBPB	chr2:54749869-54750114	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr2:54747869-54748288	IMR90	lung:	n/a	n/a
44	CEBPB	chr2:54691338-54691559	A549	lung:	n/a	n/a
45	CEBPB	chr2:54704717-54704828	K562	blood:	n/a	n/a
46	CEBPB	chr2:54727623-54727809	H1-hESC	embryonic stem cell:	n/a	chr2:54727738-54727749
47	CEBPB	chr2:54715575-54715775	IMR90	lung:	n/a	n/a
48	CEBPB	chr2:54739643-54739756	K562	blood:	n/a	chr2:54739717-54739728 chr2:54739716-54739727
49	CEBPB	chr2:54698518-54698901	MCF-7	breast:	n/a	n/a
50	CEBPB	chr2:54698550-54698817	HepG2	liver:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54710513-54710563	GM12892	blood:	n/a
2	chr2:54710513-54710563	GM12892	blood:	n/a
3	chr2:54710513-54710563	AG10803	skin:	n/a
4	chr2:54687288-54687338	H1-hESC	embryonic stem cell:	embryo
5	chr2:54710513-54710563	AG09309	skin:	n/a
6	chr2:54710513-54710563	NHBE	bronchial:	n/a
7	chr2:54753625-54753675	NH-A	brain:	n/a
8	chr2:54753625-54753675	T-47D	breast:	n/a
9	chr2:54753625-54753675	AG04450	lung:	fetal
10	chr2:54754901-54754951	PFSK-1	brain:	n/a
11	chr2:54710221-54710271	LNCaP	prostate:	n/a
12	chr2:54754901-54754951	AG04449	skin:	fetal
13	chr2:54754901-54754951	HepG2	liver:	n/a
14	chr2:54754922-54754972	HEEpiC	esophagus:	n/a
15	chr2:54710513-54710563	Caco-2	colon:	n/a
16	chr2:54754922-54754972	HepG2	liver:	n/a
17	chr2:54687288-54687338	GM19239	blood:	n/a
18	chr2:54685010-54685060	HAEpiC	amniotic membrane:	n/a
19	chr2:54732851-54732901	HIPEpiC	eye:	n/a
20	chr2:54710221-54710271	HCT-116	colon:	n/a
21	chr2:54732851-54732901	GM19239	blood:	n/a
22	chr2:54727293-54727343	CMK	blood:	n/a
23	chr2:54687288-54687338	MCF10A-Er-Src	breast:	n/a
24	chr2:54751507-54751557	MCF-7	breast:	n/a
25	chr2:54753625-54753675	HCT-116	colon:	n/a
26	chr2:54710221-54710271	Hepatocyte	liver:	n/a
27	chr2:54754922-54754972	MCF10A-Er-Src	breast:	n/a
28	chr2:54754901-54754951	K562	blood:	n/a
29	chr2:54697181-54697231	SK-N-MC	brain:	n/a
30	chr2:54725613-54725663	NHBE	bronchial:	n/a
31	chr2:54687288-54687338	K562	blood:	n/a
32	chr2:54754901-54754951	HEEpiC	esophagus:	n/a
33	chr2:54751507-54751557	HCM	heart:	n/a
34	chr2:54685010-54685060	A549	lung:	n/a
35	chr2:54697181-54697231	AG09309	skin:	n/a
36	chr2:54710221-54710271	AoSMC	blood vessel:	n/a
37	chr2:54754901-54754951	AG09319	gingival:	n/a
38	chr2:54753625-54753675	GM19239	blood:	n/a
39	chr2:54703671-54703721	PrEC	prostate:	n/a
40	chr2:54753625-54753675	IMR90	lung:	fetal
41	chr2:54754901-54754951	GM19239	blood:	n/a
42	chr2:54685010-54685060	HCT-116	colon:	n/a
43	chr2:54754922-54754972	SAEC	small airway:	n/a
44	chr2:54753625-54753675	CMK	blood:	n/a
45	chr2:54710513-54710563	PANC-1	pancreas:	n/a
46	chr2:54685010-54685060	HL-60	blood:	n/a
47	chr2:54754901-54754951	Jurkat	blood:	n/a
48	chr2:54697181-54697231	GM12878	blood:	n/a
49	chr2:54710513-54710563	CMK	blood:	n/a
50	chr2:54753625-54753675	SKMC	muscle:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54754602..54758699-chr2:54783105..54787010,4	MCF-7	breast:
2	chr2:54716343..54718706-chr2:54724549..54726688,2	MCF-7	breast:
3	chr2:54749551..54750475-chr2:54884374..54885088,3	K562	blood:
4	chr2:54716343..54718706-chr2:54724549..54726688,2	MCF-7	breast:
5	chr2:54749602..54750431-chr2:55065446..55066330,2	K562	blood:
6	chr2:54747821..54752887-chr2:54784386..54788690,5	MCF-7	breast:
7	chr2:54749018..54751873-chr2:54799647..54801248,2	MCF-7	breast:
8	chr2:54699717..54702089-chr2:54703143..54705442,2	K562	blood:
9	chr2:54682033..54684449-chr2:54688583..54690442,2	MCF-7	breast:
10	chr2:54749588..54750503-chr2:54931523..54932509,5	K562	blood:
11	chr2:54727594..54730058-chr2:54731900..54733434,2	K562	blood:
12	chr2:54739309..54741349-chr2:54741528..54743600,2	MCF-7	breast:
13	chr2:54749225..54752072-chr2:54796311..54798001,2	K562	blood:
14	chr2:54699717..54702089-chr2:54703143..54705442,2	K562	blood:
15	chr2:54719586..54722384-chr2:54724826..54727546,2	K562	blood:
16	chr2:54749917..54750457-chr2:54884823..54885396,3	MCF-7	breast:
17	chr2:54686513..54688620-chr2:54689845..54691769,2	MCF-7	breast:
18	chr2:54682049..54684426-chr2:54689582..54692090,2	MCF-7	breast:
19	chr2:54751127..54751822-chr2:54884889..54885446,2	K562	blood:
20	chr2:54433434..54434357-chr2:54725307..54725819,2	MCF-7	breast:
21	chr2:54341619..54344136-chr2:54698378..54700154,2	MCF-7	breast:
22	chr2:54749911..54750650-chr2:54931167..54932344,3	MCF-7	breast:
23	chr2:54334195..54335002-chr2:54730347..54730951,3	MCF-7	breast:
24	chr2:54749566..54750373-chr2:54884453..54885101,2	MCF-7	breast:
25	chr2:54403773..54404429-chr2:54730122..54730843,3	MCF-7	breast:
26	chr2:54743659..54744325-chr2:54801308..54802130,2	MCF-7	breast:
27	chr2:54433377..54433952-chr2:54730236..54730920,2	MCF-7	breast:
28	chr2:54686513..54688620-chr2:54689845..54691769,2	MCF-7	breast:
29	chr2:54715431..54717877-chr2:54722811..54726356,3	K562	blood:
30	chr2:54727594..54730058-chr2:54731900..54733434,2	K562	blood:
31	chr2:54752145..54754517-chr2:54758567..54761057,2	MCF-7	breast:
32	chr2:54711498..54713391-chr2:54714675..54717364,2	K562	blood:
33	chr2:54698509..54700460-chr2:54784442..54786453,2	MCF-7	breast:
34	chr2:54749549..54750174-chr2:54888310..54888932,2	K562	blood:
35	chr2:54340022..54344058-chr2:54726690..54729314,3	MCF-7	breast:
36	chr2:54748253..54750106-chr2:54930790..54932794,2	MCF-7	breast:
37	chr17:57916060..57918497-chr2:54698560..54700070,2	MCF-7	breast:
38	chr2:54715431..54717877-chr2:54722811..54726356,3	K562	blood:
39	chr2:54735530..54737587-chr2:54805600..54807327,2	MCF-7	breast:
40	chr2:54719586..54722384-chr2:54724826..54727546,2	K562	blood:
41	chr2:54749977..54750495-chr2:54931192..54932037,2	MCF-7	breast:
42	chr2:54749132..54757147-chr2:54784492..54789269,9	MCF-7	breast:
43	chr2:54711498..54713391-chr2:54714675..54717364,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPYL6-2	chr2:54747467-54747602	ENSG00000228108.1
2	lnc-C2orf73-2	chr2:54743773-54744815	expReg_chr2_4103_+
3	lnc-TSPYL6-2	chr2:54743185-54743386	ENSG00000228108.1

No data

Variant related genes	Relation type
SPTBN1	TF binding region
RPL23AP32	TF binding region
SPTBN1	CpG island
RPL23AP32	CpG island
ENSG00000115306	chromatin interactions
ENSG00000170634	chromatin interactions

Extended variants
information (count: 3070 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:3070 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11898505	chr2:54684557-54684558	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs79175637	chr2:54684565-54684566	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs554078337	chr2:54684583-54684584	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs4024576	chr2:54684666-54684667	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112452030	chr2:54684675-54684676	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs374362494	chr2:54684681-54684682	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs542800414	chr2:54684750-54684751	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs562697679	chr2:54684795-54684796	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536403074	chr2:54684811-54684812	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs114087064	chr2:54684851-54684852	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs7609416	chr2:54684866-54684867	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4404316	chr2:54684895-54684896	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561587325	chr2:54684909-54684910	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs530329269	chr2:54684921-54684922	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs565012328	chr2:54684940-54684941	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs182200266	chr2:54684985-54684986	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs569950753	chr2:54685011-54685012	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs368961599	chr2:54685055-54685056	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs139748117	chr2:54685075-54685076	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs552687278	chr2:54685080-54685081	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs188088953	chr2:54685084-54685085	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs371718908	chr2:54685100-54685101	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs111938617	chr2:54685102-54685103	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs573854598	chr2:54685109-54685110	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs7421480	chr2:54685114-54685115	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs536563589	chr2:54685129-54685130	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs556375354	chr2:54685193-54685194	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs146603515	chr2:54685226-54685227	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545120357	chr2:54685237-54685238	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565030248	chr2:54685245-54685246	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572054818	chr2:54685253-54685254	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540974225	chr2:54685272-54685273	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs118049443	chr2:54685311-54685312	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530314208	chr2:54685356-54685357	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550090272	chr2:54685394-54685395	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369198463	chr2:54685411-54685412	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563537917	chr2:54685416-54685417	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs532609578	chr2:54685445-54685446	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs552507101	chr2:54685457-54685458	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368206012	chr2:54685476-54685477	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs566119726	chr2:54685514-54685515	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs528601544	chr2:54685548-54685549	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs141327477	chr2:54685571-54685572	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs149825286	chr2:54685596-54685597	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs80110222	chr2:54685609-54685610	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs117149083	chr2:54685629-54685630	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs546341127	chr2:54685656-54685657	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs538785422	chr2:54685689-54685690	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs75188499	chr2:54685705-54685706	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572079253	chr2:54685714-54685715	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2984 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54682000-54685000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr2:54682000-54685400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr2:54682000-54685400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:54682000-54685600	Active TSS	Brain Substantia Nigra	brain
5	chr2:54682000-54686200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:54682200-54685000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:54682200-54685200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:54682200-54685400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr2:54682200-54685400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:54682200-54685600	Active TSS	Fetal Kidney	kidney
11	chr2:54682200-54685800	Active TSS	Brain Germinal Matrix	brain
12	chr2:54682200-54686000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr2:54682200-54686200	Active TSS	Left Ventricle	heart
14	chr2:54682200-54686200	Active TSS	NHDF-Ad	bronchial
15	chr2:54682200-54686400	Active TSS	Aorta	Aorta
16	chr2:54682200-54687000	Active TSS	Ovary	ovary
17	chr2:54682200-54687000	Active TSS	Psoas Muscle	Psoas
18	chr2:54682200-54687600	Active TSS	Right Atrium	heart
19	chr2:54682400-54684800	Active TSS	Gastric	stomach
20	chr2:54682400-54685000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:54682400-54685200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:54682400-54685600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:54682400-54685600	Active TSS	Brain Angular Gyrus	brain
24	chr2:54682400-54685800	Active TSS	Esophagus	oesophagus
25	chr2:54682600-54685000	Active TSS	Fetal Brain Female	brain
26	chr2:54682600-54685200	Active TSS	Hela-S3	cervix
27	chr2:54682600-54685400	Active TSS	Brain Cingulate Gyrus	brain
28	chr2:54682600-54685400	Active TSS	Colon Smooth Muscle	Colon
29	chr2:54682600-54685600	Active TSS	Brain Anterior Caudate	brain
30	chr2:54682600-54685600	Active TSS	Fetal Lung	lung
31	chr2:54682600-54685800	Active TSS	Brain Hippocampus Middle	brain
32	chr2:54682600-54685800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr2:54682600-54686000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:54682600-54686600	Active TSS	Lung	lung
35	chr2:54682800-54684600	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr2:54682800-54684800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:54682800-54684800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:54682800-54684800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:54682800-54685000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr2:54682800-54685000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:54682800-54685000	Active TSS	Right Ventricle	heart
42	chr2:54682800-54685000	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr2:54682800-54685200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:54682800-54685400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:54682800-54685400	Active TSS	Placenta Amnion	Placenta Amnion
46	chr2:54682800-54685400	Active TSS	NH-A	brain
47	chr2:54682800-54685600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:54682800-54685600	Active TSS	Fetal Stomach	stomach
49	chr2:54682800-54685800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:54682800-54686000	Active TSS	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links