Variant report

Variant	nsv441775
Chromosome Location	chr2:113462399-113478887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:450)
CpG islands
(count:183)
Chromatin interactive
region (count:61)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:113470816-113471130	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:113463802-113464251	K562	blood:	n/a	n/a
3	ARID3A	chr2:113470854-113471064	K562	blood:	n/a	n/a
4	ATF1	chr2:113476270-113476404	K562	blood:	n/a	n/a
5	ATF1	chr2:113463778-113464170	K562	blood:	n/a	n/a
6	ATF1	chr2:113470769-113471122	K562	blood:	n/a	n/a
7	ATF2	chr2:113465819-113466214	GM12878	blood:	n/a	n/a
8	ATF2	chr2:113464925-113466306	GM12878	blood:	n/a	n/a
9	ATF3	chr2:113463768-113464205	K562	blood:	n/a	n/a
10	BACH1	chr2:113463829-113464161	K562	blood:	n/a	n/a
11	BATF	chr2:113465673-113466208	GM12878	blood:	n/a	n/a
12	BATF	chr2:113465787-113466148	GM12878	blood:	n/a	n/a
13	BATF	chr2:113463811-113464122	GM12878	blood:	n/a	n/a
14	BCL11A	chr2:113465750-113466193	GM12878	blood:	n/a	n/a
15	BCL11A	chr2:113463860-113464116	GM12878	blood:	n/a	chr2:113464000-113464007
16	BCL11A	chr2:113465826-113466133	GM12878	blood:	n/a	n/a
17	BCL3	chr2:113465813-113466182	GM12878	blood:	n/a	n/a
18	BCLAF1	chr2:113463707-113464241	GM12878	blood:	n/a	chr2:113464000-113464007
19	BCLAF1	chr2:113463694-113464236	K562	blood:	n/a	chr2:113464000-113464007
20	BCLAF1	chr2:113465627-113466276	GM12878	blood:	n/a	n/a
21	BHLHE40	chr2:113470441-113471106	K562	blood:	n/a	n/a
22	BHLHE40	chr2:113465642-113466217	GM12878	blood:	n/a	n/a
23	BHLHE40	chr2:113463323-113464170	GM12878	blood:	n/a	n/a
24	BHLHE40	chr2:113465087-113465306	K562	blood:	n/a	n/a
25	BHLHE40	chr2:113463529-113464298	K562	blood:	n/a	n/a
26	BHLHE40	chr2:113470514-113471045	HepG2	liver:	n/a	n/a
27	CBX3	chr2:113463683-113464213	K562	blood:	n/a	n/a
28	CBX3	chr2:113463384-113464303	K562	blood:	n/a	n/a
29	CBX3	chr2:113470546-113471196	K562	blood:	n/a	n/a
30	CBX3	chr2:113478387-113478760	K562	blood:	n/a	n/a
31	CBX3	chr2:113476422-113476747	K562	blood:	n/a	n/a
32	CCNT2	chr2:113470531-113471058	K562	blood:	n/a	n/a
33	CCNT2	chr2:113463551-113464309	K562	blood:	n/a	n/a
34	CEBPB	chr2:113463768-113464181	K562	blood:	n/a	n/a
35	CEBPB	chr2:113463863-113464176	IMR90	lung:	n/a	n/a
36	CEBPB	chr2:113464673-113464839	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr2:113464611-113464897	K562	blood:	n/a	n/a
38	CEBPB	chr2:113464646-113464854	K562	blood:	n/a	n/a
39	CEBPB	chr2:113470554-113470583	K562	blood:	n/a	n/a
40	CEBPB	chr2:113465704-113466294	GM12878	blood:	n/a	chr2:113466030-113466041
41	CEBPB	chr2:113476641-113476668	IMR90	lung:	n/a	n/a
42	CEBPB	chr2:113463715-113464316	K562	blood:	n/a	n/a
43	CEBPB	chr2:113464532-113464921	K562	blood:	n/a	n/a
44	CEBPB	chr2:113470792-113471072	IMR90	lung:	n/a	n/a
45	CEBPD	chr2:113463600-113464175	K562	blood:	n/a	n/a
46	CEBPD	chr2:113463690-113464325	K562	blood:	n/a	n/a
47	CHD2	chr2:113467549-113467687	GM12878	blood:	n/a	n/a
48	CHD2	chr2:113463735-113464183	K562	blood:	n/a	n/a
49	CHD2	chr2:113463789-113464138	GM12878	blood:	n/a	n/a
50	CHD2	chr2:113465819-113466177	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:113464048-113464098	AG04450	lung:	fetal
2	chr2:113464048-113464098	MCF-7	breast:	n/a
3	chr2:113470704-113470754	T-47D	breast:	n/a
4	chr2:113465072-113465122	GM19239	blood:	n/a
5	chr2:113465072-113465122	AG09319	gingival:	n/a
6	chr2:113470704-113470754	GM19239	blood:	n/a
7	chr2:113470704-113470754	NHBE	bronchial:	n/a
8	chr2:113470704-113470754	H1-hESC	embryonic stem cell:	embryo
9	chr2:113470704-113470754	HUVEC	blood vessel:	n/a
10	chr2:113464048-113464098	HNPCEpiC	eye:	n/a
11	chr2:113464048-113464098	Caco-2	colon:	n/a
12	chr2:113464048-113464098	GM12878	blood:	n/a
13	chr2:113465072-113465122	NHBE	bronchial:	n/a
14	chr2:113465072-113465122	NB4	blood:	n/a
15	chr2:113470704-113470754	SK-N-MC	brain:	n/a
16	chr2:113465072-113465122	PANC-1	pancreas:	n/a
17	chr2:113465072-113465122	ovcar-3	ovarian:	n/a
18	chr2:113470704-113470754	GM12892	blood:	n/a
19	chr2:113464048-113464098	BJ	skin:	n/a
20	chr2:113464048-113464098	HEEpiC	esophagus:	n/a
21	chr2:113464048-113464098	A549	lung:	n/a
22	chr2:113470704-113470754	NH-A	brain:	n/a
23	chr2:113465072-113465122	HL-60	blood:	n/a
24	chr2:113464048-113464098	GM06990	blood:	n/a
25	chr2:113470704-113470754	K562	blood:	n/a
26	chr2:113464048-113464098	HAEpiC	amniotic membrane:	n/a
27	chr2:113464048-113464098	ovcar-3	ovarian:	n/a
28	chr2:113470704-113470754	HCF	heart:	n/a
29	chr2:113470704-113470754	ECC-1	luminal epithelium:	n/a
30	chr2:113465072-113465122	PrEC	prostate:	n/a
31	chr2:113464048-113464098	PANC-1	pancreas:	n/a
32	chr2:113464048-113464098	ProgFib	skin:	n/a
33	chr2:113465072-113465122	SK-N-SH	brain:	n/a
34	chr2:113464048-113464098	Jurkat	blood:	n/a
35	chr2:113470704-113470754	HMEC	breast:	n/a
36	chr2:113470704-113470754	HL-60	blood:	n/a
37	chr2:113470704-113470754	HIPEpiC	eye:	n/a
38	chr2:113464048-113464098	T-47D	breast:	n/a
39	chr2:113465072-113465122	K562	blood:	n/a
40	chr2:113465072-113465122	SK-N-SH_RA	brain:	n/a
41	chr2:113465072-113465122	CMK	blood:	n/a
42	chr2:113464048-113464098	NHBE	bronchial:	n/a
43	chr2:113470704-113470754	AoSMC	blood vessel:	n/a
44	chr2:113470704-113470754	Jurkat	blood:	n/a
45	chr2:113464048-113464098	SAEC	small airway:	n/a
46	chr2:113465072-113465122	HRCEpiC	kidney:	n/a
47	chr2:113464048-113464098	NB4	blood:	n/a
48	chr2:113470704-113470754	HPAEpiC	pulmonary alveolar:	n/a
49	chr2:113464048-113464098	HepG2	liver:	n/a
50	chr2:113464048-113464098	HRPEpiC	eye:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:113456909..113459689-chr2:113463239..113465215,3	K562	blood:
2	chr2:113423910..113425934-chr2:113475592..113478150,2	K562	blood:
3	chr2:113401060..113404507-chr2:113463358..113467021,5	K562	blood:
4	chr2:113440346..113442226-chr2:113462249..113464616,2	K562	blood:
5	chr2:113462515..113465478-chr2:113468024..113470345,2	K562	blood:
6	chr2:113455158..113456685-chr2:113462194..113464257,2	MCF-7	breast:
7	chr2:113456271..113458679-chr2:113474472..113476820,3	K562	blood:
8	chr2:113470616..113472582-chr2:113482683..113484318,2	MCF-7	breast:
9	chr2:113403381..113406309-chr2:113461047..113462788,2	K562	blood:
10	chr2:113475474..113478098-chr2:113481097..113483249,3	MCF-7	breast:
11	chr2:113401638..113406636-chr2:113469377..113473888,9	K562	blood:
12	chr2:113462767..113464610-chr2:113470290..113471852,2	K562	blood:
13	chr2:113465999..113468016-chr2:113469384..113470949,2	K562	blood:
14	chr2:113400575..113405879-chr2:113475243..113481233,15	K562	blood:
15	chr2:113470817..113472423-chr2:113482357..113484049,2	K562	blood:
16	chr2:113463436..113465065-chr2:113468008..113469803,2	K562	blood:
17	chr2:113461776..113469381-chr2:113473397..113480932,10	K562	blood:
18	chr2:113465999..113468016-chr2:113469384..113470949,2	K562	blood:
19	chr2:113463027..113465747-chr2:113466375..113467999,2	K562	blood:
20	chr2:113455109..113458679-chr2:113473651..113476820,4	K562	blood:
21	chr2:113468636..113470784-chr2:113471239..113473518,2	MCF-7	breast:
22	chr2:113448136..113451389-chr2:113461614..113465494,4	K562	blood:
23	chr2:113443028..113446257-chr2:113466353..113468371,4	K562	blood:
24	chr2:113458059..113460940-chr2:113462365..113464957,4	K562	blood:
25	chr2:113420962..113423174-chr2:113470482..113472440,2	K562	blood:
26	chr2:113415587..113417242-chr2:113468748..113471406,3	K562	blood:
27	chr2:113470817..113472940-chr2:113481577..113484049,3	K562	blood:
28	chr2:113469794..113474486-chr2:113475351..113478319,4	K562	blood:
29	chr2:113340714..113343330-chr2:113462470..113465365,2	K562	blood:
30	chr2:113477140..113479132-chr2:113479406..113481880,2	K562	blood:
31	chr2:113382749..113384471-chr2:113464194..113466806,2	K562	blood:
32	chr2:113469794..113474486-chr2:113475351..113478319,4	K562	blood:
33	chr2:113462767..113464610-chr2:113470290..113471852,2	K562	blood:
34	chr2:113401472..113405460-chr2:113462823..113466044,10	K562	blood:
35	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
36	chr2:113414501..113417087-chr2:113468688..113471406,2	K562	blood:
37	chr2:113385104..113391547-chr2:113463938..113470179,6	K562	blood:
38	chr2:113468636..113470784-chr2:113471239..113473518,2	MCF-7	breast:
39	chr2:113453857..113455888-chr2:113460947..113463917,2	K562	blood:
40	chr2:113462515..113465478-chr2:113468024..113470345,2	K562	blood:
41	chr2:113415901..113418614-chr2:113461672..113464047,2	K562	blood:
42	chr2:113407931..113409765-chr2:113463471..113465338,2	K562	blood:
43	chr2:113392494..113394338-chr2:113475169..113476676,2	MCF-7	breast:
44	chr2:113450086..113451690-chr2:113470849..113472489,2	K562	blood:
45	chr2:113463027..113465747-chr2:113466375..113467999,2	K562	blood:
46	chr2:113421228..113422950-chr2:113462402..113464448,2	K562	blood:
47	chr2:113408522..113411073-chr2:113469156..113471009,2	K562	blood:
48	chr2:113470447..113473260-chr2:113504157..113506344,2	K562	blood:
49	chr2:113470986..113471535-chr2:113484133..113484894,2	K562	blood:
50	chr2:113458404..113460724-chr2:113468297..113470571,2	K562	blood:

No data

Variant related genes	Relation type
NT5DC4	TF binding region
NT5DC4	CpG island
ENSG00000125611	chromatin interactions
ENSG00000144136	chromatin interactions
ENSG00000237753	chromatin interactions
ENSG00000144130	chromatin interactions

Extended variants
information (count: 716 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:716 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541121875	chr2:113462399-113462400	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs561444918	chr2:113462425-113462426	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574456019	chr2:113462451-113462452	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs116409742	chr2:113462514-113462515	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs183296653	chr2:113462537-113462538	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs80343454	chr2:113462678-113462679	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs577923250	chr2:113462736-113462737	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs551544232	chr2:113462797-113462798	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs187584410	chr2:113462807-113462808	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs150956819	chr2:113462816-113462817	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs371665701	chr2:113462836-113462837	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs567392059	chr2:113462844-113462845	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs536233972	chr2:113462913-113462914	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs549837114	chr2:113462986-113462987	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs4849106	chr2:113462989-113462990	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs539012632	chr2:113463017-113463018	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs192265088	chr2:113463049-113463050	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs4848292	chr2:113463058-113463059	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs4849107	chr2:113463096-113463097	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs554613296	chr2:113463119-113463120	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs371951416	chr2:113463146-113463147	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs574617571	chr2:113463201-113463202	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs374943502	chr2:113463231-113463232	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs184842279	chr2:113463277-113463278	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs563383434	chr2:113463326-113463327	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs1474030	chr2:113463359-113463360	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs542233498	chr2:113463372-113463373	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs575927256	chr2:113463384-113463385	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs188045653	chr2:113463397-113463398	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs565193856	chr2:113463416-113463417	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs2138603	chr2:113463417-113463418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs4355125	chr2:113463448-113463449	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs191424270	chr2:113463453-113463454	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs368631362	chr2:113463468-113463469	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs547598726	chr2:113463500-113463501	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs560950587	chr2:113463518-113463519	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs1018317	chr2:113463525-113463526	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs549802307	chr2:113463541-113463542	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs569626436	chr2:113463562-113463563	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs371881424	chr2:113463574-113463575	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs184496636	chr2:113463616-113463617	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs140744965	chr2:113463655-113463656	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs74876111	chr2:113463656-113463657	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs80127404	chr2:113463713-113463714	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs568203394	chr2:113463771-113463772	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs144186631	chr2:113463878-113463879	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs557038005	chr2:113463903-113463904	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs551070075	chr2:113463916-113463917	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs11282964	chr2:113463917-113463918	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs35758990	chr2:113463925-113463926	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113451800-113462800	Weak transcription	Dnd41	blood
2	chr2:113458600-113463400	Weak transcription	Osteobl	bone
3	chr2:113458600-113464000	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:113458800-113463400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:113458800-113469000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:113459400-113463400	Weak transcription	Primary B cells from cord blood	blood
7	chr2:113459600-113463000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:113459600-113463200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:113459800-113463600	Weak transcription	NHLF	lung
10	chr2:113460000-113462400	Weak transcription	K562	blood
11	chr2:113460000-113463000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:113460200-113462600	Weak transcription	GM12878-XiMat	blood
13	chr2:113460200-113462800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:113460600-113462600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:113460800-113462800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:113462000-113464200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:113462000-113468800	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:113462400-113462800	Enhancers	K562	blood
19	chr2:113462400-113465600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:113462600-113463400	Enhancers	GM12878-XiMat	blood
21	chr2:113462600-113469400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:113462800-113463000	Flanking Active TSS	K562	blood
23	chr2:113462800-113463400	Enhancers	Dnd41	blood
24	chr2:113462800-113463400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:113462800-113464400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr2:113462800-113465400	Enhancers	HMEC	breast
27	chr2:113462800-113469200	Enhancers	Primary B cells from peripheral blood	blood
28	chr2:113463000-113463400	Enhancers	K562	blood
29	chr2:113463000-113464200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:113463000-113464400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:113463000-113465800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:113463000-113469000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:113463200-113463400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr2:113463200-113463400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:113463200-113463600	Bivalent Enhancer	NH-A	brain
36	chr2:113463200-113464200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:113463200-113464200	Enhancers	Thymus	Thymus
38	chr2:113463200-113464400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr2:113463200-113464400	Enhancers	Spleen	Spleen
40	chr2:113463200-113464600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:113463200-113465000	Enhancers	Fetal Thymus	thymus
42	chr2:113463200-113465200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr2:113463200-113465400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:113463200-113465400	Enhancers	NHEK	skin
45	chr2:113463200-113465800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:113463200-113467000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:113463400-113463600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:113463400-113464000	Flanking Active TSS	Dnd41	blood
49	chr2:113463400-113464200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr2:113463400-113464200	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links