Variant report

Variant	nsv947521
Chromosome Location	chr1:228698244-228704499
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	chr1:228702670-228703253	K562	blood:	n/a	n/a
2	ARID3A	chr1:228700994-228701365	K562	blood:	n/a	n/a
3	ATF1	chr1:228702205-228702508	K562	blood:	n/a	n/a
4	ATF1	chr1:228700988-228701773	K562	blood:	n/a	n/a
5	BACH1	chr1:228700893-228701089	K562	blood:	n/a	n/a
6	BHLHE40	chr1:228702150-228702604	K562	blood:	n/a	n/a
7	BHLHE40	chr1:228700886-228701542	K562	blood:	n/a	n/a
8	CBX3	chr1:228700848-228701519	K562	blood:	n/a	n/a
9	CBX3	chr1:228700931-228701415	K562	blood:	n/a	n/a
10	CCNT2	chr1:228700823-228701572	K562	blood:	n/a	chr1:228701073-228701082 chr1:228701293-228701302
11	CEBPB	chr1:228700797-228701605	K562	blood:	n/a	chr1:228701235-228701248
12	CEBPB	chr1:228701070-228701401	A549	lung:	n/a	chr1:228701235-228701248
13	CEBPB	chr1:228700970-228701383	K562	blood:	n/a	chr1:228701235-228701248
14	CEBPB	chr1:228701078-228701404	Hela-S3	cervix:	n/a	chr1:228701235-228701248
15	CEBPB	chr1:228700631-228701705	K562	blood:	n/a	chr1:228701235-228701248
16	CEBPB	chr1:228701073-228701393	IMR90	lung:	n/a	chr1:228701235-228701248
17	CEBPB	chr1:228701129-228701363	H1-hESC	embryonic stem cell:	n/a	chr1:228701235-228701248
18	CEBPB	chr1:228702134-228702533	K562	blood:	n/a	n/a
19	CEBPB	chr1:228701066-228701387	HepG2	liver:	n/a	chr1:228701235-228701248
20	CEBPB	chr1:228701086-228701376	MCF-7	breast:	n/a	chr1:228701235-228701248
21	CEBPB	chr1:228702061-228702482	K562	blood:	n/a	n/a
22	CEBPD	chr1:228700831-228701506	K562	blood:	n/a	n/a
23	CEBPD	chr1:228700544-228701794	K562	blood:	n/a	n/a
24	CHD2	chr1:228700785-228701637	K562	blood:	n/a	n/a
25	CREB1	chr1:228700582-228701779	K562	blood:	n/a	chr1:228701691-228701704
26	CREB1	chr1:228700758-228701935	K562	blood:	n/a	chr1:228701691-228701704
27	CTCF	chr1:228702891-228703367	HepG2	liver:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175 chr1:228703065-228703086 chr1:228703072-228703085
28	CTCF	chr1:228703087-228703265	GM20000	blood:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175
29	CTCF	chr1:228703100-228703250	NHLF	lung:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175
30	CTCF	chr1:228703080-228703230	HFF	foreskin:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175
31	CTCF	chr1:228702681-228703493	HCT-116	colon:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175 chr1:228703065-228703086 chr1:228703072-228703085
32	CTCF	chr1:228703060-228703210	HEK293	kidney:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175 chr1:228703065-228703086 chr1:228703072-228703085
33	CTCF	chr1:228703080-228703230	HPAF	blood vessel:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175
34	CTCF	chr1:228702927-228703350	H1-hESC	embryonic stem cell:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175 chr1:228703065-228703086 chr1:228703072-228703085
35	CTCF	chr1:228703080-228703230	HBMEC	blood vessel:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175
36	CTCF	chr1:228703012-228703223	SK-N-SH_RA	brain:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175 chr1:228703065-228703086 chr1:228703072-228703085
37	CTCF	chr1:228703080-228703230	HRPEpiC	eye:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175
38	CTCF	chr1:228703080-228703230	HFF-Myc	foreskin:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175
39	CTCF	chr1:228703080-228703230	HUVEC	blood vessel:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175
40	CTCF	chr1:228703080-228703230	AoAF	blood vessel:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175
41	CTCF	chr1:228703070-228703267	NHEK	skin:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175 chr1:228703072-228703085
42	CTCF	chr1:228703080-228703230	HCPEpiC	choroid plexus:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175
43	CTCF	chr1:228703100-228703250	HMEC	breast:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175
44	CTCF	chr1:228703399-228703530	GM10248	blood:	n/a	n/a
45	CTCF	chr1:228703491-228703501	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr1:228703055-228703291	GM13977	blood:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175 chr1:228703065-228703086 chr1:228703072-228703085
47	CTCF	chr1:228703060-228703210	GM12864	blood:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175 chr1:228703065-228703086 chr1:228703072-228703085
48	CTCF	chr1:228703020-228703303	GM12878	blood:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175 chr1:228703065-228703086 chr1:228703072-228703085
49	CTCF	chr1:228703011-228703307	Medullo	brain:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175 chr1:228703065-228703086 chr1:228703072-228703085
50	CTCF	chr1:228703100-228703250	HRPEpiC	eye:	n/a	chr1:228703152-228703173 chr1:228703159-228703172 chr1:228703157-228703175

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228700583-228700633	AG10803	skin:	n/a
2	chr1:228700583-228700633	HL-60	blood:	n/a
3	chr1:228700583-228700633	AG09309	skin:	n/a
4	chr1:228700583-228700633	SKMC	muscle:	n/a
5	chr1:228700583-228700633	BE2_C	brain:	n/a
6	chr1:228700583-228700633	HRE	kidney:	n/a
7	chr1:228700583-228700633	AG04450	lung:	fetal
8	chr1:228700583-228700633	ECC-1	luminal epithelium:	n/a
9	chr1:228700583-228700633	HRCEpiC	kidney:	n/a
10	chr1:228700583-228700633	ProgFib	skin:	n/a
11	chr1:228700583-228700633	HMEC	breast:	n/a
12	chr1:228700583-228700633	PrEC	prostate:	n/a
13	chr1:228700583-228700633	SAEC	small airway:	n/a
14	chr1:228700583-228700633	HUVEC	blood vessel:	n/a
15	chr1:228700583-228700633	GM19239	blood:	n/a
16	chr1:228700583-228700633	AG04449	skin:	fetal
17	chr1:228700583-228700633	HCT-116	colon:	n/a
18	chr1:228700583-228700633	GM12878	blood:	n/a
19	chr1:228700583-228700633	HRPEpiC	eye:	n/a
20	chr1:228700583-228700633	NB4	blood:	n/a
21	chr1:228700583-228700633	SK-N-SH	brain:	n/a
22	chr1:228700583-228700633	A549	lung:	n/a
23	chr1:228700583-228700633	HIPEpiC	eye:	n/a
24	chr1:228700583-228700633	NHDF-neo	bronchial:	n/a
25	chr1:228700583-228700633	IMR90	lung:	fetal
26	chr1:228700583-228700633	NH-A	brain:	n/a
27	chr1:228700583-228700633	PFSK-1	brain:	n/a
28	chr1:228700583-228700633	HAEpiC	amniotic membrane:	n/a
29	chr1:228700583-228700633	HepG2	liver:	n/a
30	chr1:228700583-228700633	AoSMC	blood vessel:	n/a
31	chr1:228700583-228700633	K562	blood:	n/a
32	chr1:228700583-228700633	Caco-2	colon:	n/a
33	chr1:228700583-228700633	HNPCEpiC	eye:	n/a
34	chr1:228700583-228700633	CMK	blood:	n/a
35	chr1:228700583-228700633	Hela-S3	cervix:	n/a
36	chr1:228700583-228700633	NT2-D1	testis:	n/a
37	chr1:228700583-228700633	GM12891	blood:	n/a
38	chr1:228700583-228700633	H1-hESC	embryonic stem cell:	embryo
39	chr1:228700583-228700633	GM06990	blood:	n/a
40	chr1:228700583-228700633	MCF-7	breast:	n/a
41	chr1:228700583-228700633	PANC-1	pancreas:	n/a
42	chr1:228700583-228700633	Hepatocyte	liver:	n/a
43	chr1:228700583-228700633	LNCaP	prostate:	n/a
44	chr1:228700583-228700633	HCF	heart:	n/a
45	chr1:228700583-228700633	AG09319	gingival:	n/a
46	chr1:228700583-228700633	MCF10A-Er-Src	breast:	n/a
47	chr1:228700583-228700633	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:228700583-228700633	HCPEpiC	choroid plexus:	n/a
49	chr1:228700583-228700633	ovcar-3	ovarian:	n/a
50	chr1:228700583-228700633	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228643550..228646999-chr1:228697754..228701028,5	K562	blood:
2	chr1:228270262..228271893-chr1:228704397..228705922,2	K562	blood:
3	chr1:228392725..228394871-chr1:228701724..228704719,2	K562	blood:
4	chr1:228700560..228702388-chr1:228707386..228709200,2	K562	blood:
5	chr1:228452377..228453300-chr1:228702937..228703662,2	K562	blood:
6	chr1:228556482..228558533-chr1:228701225..228702793,3	K562	blood:
7	chr1:228674158..228676652-chr1:228698714..228701340,3	K562	blood:
8	chr1:228659611..228660330-chr1:228702674..228703564,2	K562	blood:
9	chr1:228566384..228567022-chr1:228702609..228703392,3	MCF-7	breast:
10	chr1:228414817..228415566-chr1:228702553..228703686,3	K562	blood:
11	chr1:228696529..228699343-chr1:228702490..228705353,2	K562	blood:
12	chr1:228353428..228355083-chr1:228698397..228701080,2	K562	blood:
13	chr1:228677727..228683972-chr1:228696742..228702359,8	K562	blood:
14	chr1:228594895..228597342-chr1:228698615..228701560,2	K562	blood:
15	chr1:228191722..228192636-chr1:228703111..228703660,2	K562	blood:
16	chr1:228662344..228664325-chr1:228696887..228698862,2	K562	blood:
17	chr1:228353333..228353944-chr1:228702817..228703586,2	K562	blood:
18	chr1:228675436..228678007-chr1:228697619..228700594,3	MCF-7	breast:
19	chr1:228700560..228702941-chr1:228707432..228709200,2	K562	blood:
20	chr1:228638761..228647671-chr1:228695176..228704605,18	K562	blood:
21	chr1:228268869..228271597-chr1:228699816..228701498,2	K562	blood:
22	chr1:228651267..228651991-chr1:228702700..228703388,2	K562	blood:
23	chr1:228688334..228689291-chr1:228702696..228703587,3	K562	blood:
24	chr1:228645121..228649502-chr1:228703257..228706050,4	MCF-7	breast:
25	chr1:228696529..228699343-chr1:228702490..228705353,2	K562	blood:
26	chr1:228678361..228680041-chr1:228700662..228702359,2	K562	blood:
27	chr1:228400895..228401787-chr1:228702783..228703634,3	K562	blood:
28	chr1:228700627..228702653-chr1:228703677..228705414,2	K562	blood:
29	chr1:228588406..228590826-chr1:228696137..228698251,2	MCF-7	breast:
30	chr1:228528158..228528703-chr1:228703089..228703660,2	K562	blood:
31	chr1:228688211..228688771-chr1:228701705..228702362,2	K562	blood:
32	chr1:228456017..228456963-chr1:228702685..228703640,2	K562	blood:
33	chr1:228695043..228698543-chr1:228698767..228702400,6	K562	blood:
34	chr1:228700627..228702653-chr1:228703677..228705414,2	K562	blood:
35	chr1:228557033..228559496-chr1:228701170..228702729,2	K562	blood:
36	chr1:228651785..228653360-chr1:228701547..228703326,2	K562	blood:
37	chr1:228688493..228689315-chr1:228702705..228703594,3	MCF-7	breast:
38	chr1:228658472..228661206-chr1:228701587..228703125,2	K562	blood:

Variant related genes	Relation type
BTNL10	TF binding region
BTNL10	CpG island
ENSG00000181218	chromatin interactions
ENSG00000162913	chromatin interactions
ENSG00000168159	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000215811	chromatin interactions
ENSG00000154370	chromatin interactions
ENSG00000231563	chromatin interactions
ENSG00000143761	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000181201	chromatin interactions

Extended variants
information (count: 268 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549053526	chr1:228698258-228698259	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs139390587	chr1:228698269-228698270	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs376914850	chr1:228698275-228698276	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs373503724	chr1:228698280-228698281	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs538019798	chr1:228698299-228698300	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs12133581	chr1:228698306-228698307	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs115476782	chr1:228698311-228698312	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs150037316	chr1:228698324-228698325	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs118133033	chr1:228698378-228698379	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs145321890	chr1:228698406-228698407	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs573978245	chr1:228698420-228698421	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs148858621	chr1:228698463-228698464	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs556605357	chr1:228698488-228698489	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs576588503	chr1:228698489-228698490	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs530822825	chr1:228698522-228698523	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs533756798	chr1:228698576-228698577	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs545591178	chr1:228698603-228698604	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs539862489	chr1:228698644-228698645	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs72763977	chr1:228698653-228698654	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567385551	chr1:228698675-228698676	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs536388917	chr1:228698679-228698680	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs577074224	chr1:228698697-228698698	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs556273448	chr1:228698777-228698778	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs180791536	chr1:228698802-228698803	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs187626941	chr1:228698808-228698809	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs559933662	chr1:228698860-228698861	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs143485313	chr1:228698902-228698903	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs542382692	chr1:228698907-228698908	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs562572218	chr1:228698937-228698938	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs531416495	chr1:228698955-228698956	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs568421262	chr1:228698956-228698957	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs116993221	chr1:228698968-228698969	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs571214409	chr1:228699036-228699037	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs538621028	chr1:228699040-228699041	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs191942717	chr1:228699042-228699043	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs183857619	chr1:228699055-228699056	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs185910509	chr1:228699062-228699063	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs536629445	chr1:228699088-228699089	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs71650388	chr1:228699103-228699104	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs71650389	chr1:228699105-228699106	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs115325613	chr1:228699121-228699122	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs111852315	chr1:228699153-228699154	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs570101692	chr1:228699172-228699173	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs151206232	chr1:228699174-228699175	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs540490221	chr1:228699187-228699188	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs190284275	chr1:228699218-228699219	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs375261784	chr1:228699220-228699221	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs182555740	chr1:228699224-228699225	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs555219819	chr1:228699238-228699239	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs28463300	chr1:228699246-228699247	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228696800-228699400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:228696800-228700400	Enhancers	K562	blood
3	chr1:228697000-228699000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:228697600-228702400	Weak transcription	Esophagus	oesophagus
5	chr1:228698200-228698400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:228698600-228698800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:228698800-228699000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:228699000-228700400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:228699000-228702600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:228699200-228699600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr1:228699200-228701400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:228699400-228699800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:228699400-228700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:228699600-228700000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr1:228699600-228701400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:228699800-228700200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:228699800-228701400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:228699800-228701600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:228700200-228700800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:228700200-228701000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:228700200-228701200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:228700200-228701400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr1:228700200-228701400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:228700400-228701000	Enhancers	GM12878-XiMat	blood
25	chr1:228700400-228701000	Flanking Active TSS	K562	blood
26	chr1:228700400-228701600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:228700400-228701600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr1:228700400-228701600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:228700600-228701000	Enhancers	HMEC	breast
30	chr1:228700600-228701000	Bivalent Enhancer	NHEK	skin
31	chr1:228700600-228701200	Enhancers	Primary T cells from cord blood	blood
32	chr1:228700600-228701200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr1:228700600-228701200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr1:228700600-228701200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:228700600-228701200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:228700600-228701600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr1:228700800-228701400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:228701000-228701200	Enhancers	K562	blood
39	chr1:228701200-228701400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:228701200-228701800	Flanking Active TSS	K562	blood
41	chr1:228701400-228701600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr1:228701400-228701600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
43	chr1:228701400-228702400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:228701600-228702000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:228701800-228703000	Enhancers	K562	blood
46	chr1:228702400-228702600	Enhancers	Esophagus	oesophagus
47	chr1:228702400-228702600	Bivalent Enhancer	HepG2	liver

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