Variant report

Variant	nsv535314
Chromosome Location	chr1:226087226-226128261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1473)
CpG islands
(count:1222)
Chromatin interactive
region (count:73)
LncRNA
region (count:2)
Mature miRNA
region (count: 2)
miRNA target
sites (count:4)

(count:1473 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:226096067-226096122	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:226119091-226119687	K562	blood:	n/a	n/a
3	ARID3A	chr1:226116174-226116529	K562	blood:	n/a	n/a
4	ARID3A	chr1:226111775-226112126	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:226111945-226112140	K562	blood:	n/a	n/a
6	ARID3A	chr1:226104915-226105473	K562	blood:	n/a	n/a
7	ATF1	chr1:226119026-226119614	K562	blood:	n/a	n/a
8	ATF1	chr1:226116107-226116523	K562	blood:	n/a	n/a
9	ATF2	chr1:226086857-226087421	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr1:226111726-226112053	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr1:226098908-226099309	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr1:226111646-226112169	GM12878	blood:	n/a	n/a
13	ATF2	chr1:226098940-226099300	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr1:226086759-226087356	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr1:226111936-226112165	GM12878	blood:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
16	ATF3	chr1:226116101-226116571	K562	blood:	n/a	n/a
17	ATF3	chr1:226111809-226112158	GM12878	blood:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
18	ATF3	chr1:226111821-226112176	K562	blood:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
19	ATF3	chr1:226111460-226112083	A549	lung:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
20	ATF3	chr1:226111814-226112141	HepG2	liver:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
21	BACH1	chr1:226114325-226114453	K562	blood:	n/a	n/a
22	BACH1	chr1:226108878-226108909	K562	blood:	n/a	n/a
23	BACH1	chr1:226105279-226105631	K562	blood:	n/a	n/a
24	BACH1	chr1:226111677-226111947	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr1:226098983-226099421	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr1:226116155-226116597	K562	blood:	n/a	n/a
27	BACH1	chr1:226105294-226105599	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr1:226086943-226087474	H1-hESC	embryonic stem cell:	n/a	n/a
29	BATF	chr1:226105298-226105535	GM12878	blood:	n/a	chr1:226105454-226105465
30	BATF	chr1:226107656-226107896	GM12878	blood:	n/a	n/a
31	BCL11A	chr1:226087033-226087369	H1-hESC	embryonic stem cell:	n/a	n/a
32	BCL11A	chr1:226087044-226087242	H1-hESC	embryonic stem cell:	n/a	n/a
33	BCL3	chr1:226111658-226112099	GM12878	blood:	n/a	n/a
34	BCL3	chr1:226111581-226112156	A549	lung:	n/a	n/a
35	BCL3	chr1:226116007-226116612	K562	blood:	n/a	chr1:226116345-226116354
36	BCL3	chr1:226111421-226112154	A549	lung:	n/a	n/a
37	BCLAF1	chr1:226099000-226099390	GM12878	blood:	n/a	n/a
38	BCLAF1	chr1:226111545-226112244	K562	blood:	n/a	n/a
39	BCLAF1	chr1:226111560-226112189	GM12878	blood:	n/a	n/a
40	BCLAF1	chr1:226111460-226112161	GM12878	blood:	n/a	n/a
41	BCLAF1	chr1:226111678-226112154	K562	blood:	n/a	n/a
42	BHLHE40	chr1:226111068-226112514	K562	blood:	n/a	n/a
43	BHLHE40	chr1:226115921-226116535	K562	blood:	n/a	n/a
44	BHLHE40	chr1:226111739-226112185	GM12878	blood:	n/a	n/a
45	BHLHE40	chr1:226099126-226099310	GM12878	blood:	n/a	chr1:226099236-226099252
46	BHLHE40	chr1:226114786-226114803	K562	blood:	n/a	n/a
47	BHLHE40	chr1:226114463-226114480	K562	blood:	n/a	n/a
48	BHLHE40	chr1:226118987-226119780	K562	blood:	n/a	n/a
49	BHLHE40	chr1:226111112-226112194	HepG2	liver:	n/a	n/a
50	BHLHE40	chr1:226123937-226124137	HepG2	liver:	n/a	n/a

(count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226112258-226112308	HRCEpiC	kidney:	n/a
2	chr1:226112363-226112413	SAEC	small airway:	n/a
3	chr1:226112258-226112308	HRCEpiC	kidney:	n/a
4	chr1:226112363-226112413	SAEC	small airway:	n/a
5	chr1:226111974-226112024	SAEC	small airway:	n/a
6	chr1:226112373-226112423	AG04450	lung:	fetal
7	chr1:226127694-226127744	HCT-116	colon:	n/a
8	chr1:226099147-226099197	HEEpiC	esophagus:	n/a
9	chr1:226124569-226124619	ECC-1	luminal epithelium:	n/a
10	chr1:226126862-226126912	SK-N-SH_RA	brain:	n/a
11	chr1:226114565-226114615	Jurkat	blood:	n/a
12	chr1:226114565-226114615	NT2-D1	testis:	n/a
13	chr1:226099031-226099081	RPTEC	kidney:	n/a
14	chr1:226112165-226112215	BJ	skin:	n/a
15	chr1:226099147-226099197	HEK293	kidney:	embryo
16	chr1:226112534-226112584	PANC-1	pancreas:	n/a
17	chr1:226112165-226112215	Hela-S3	cervix:	n/a
18	chr1:226111804-226111854	GM19239	blood:	n/a
19	chr1:226127694-226127744	NHBE	bronchial:	n/a
20	chr1:226127113-226127163	HMEC	breast:	n/a
21	chr1:226111974-226112024	IMR90	lung:	fetal
22	chr1:226127290-226127340	NHDF-neo	bronchial:	n/a
23	chr1:226099147-226099197	HRE	kidney:	n/a
24	chr1:226112165-226112215	AG04449	skin:	fetal
25	chr1:226112258-226112308	AG04450	lung:	fetal
26	chr1:226107899-226107949	GM12892	blood:	n/a
27	chr1:226099031-226099081	MCF-7	breast:	n/a
28	chr1:226127694-226127744	HIPEpiC	eye:	n/a
29	chr1:226111974-226112024	LNCaP	prostate:	n/a
30	chr1:226124569-226124619	NHDF-neo	bronchial:	n/a
31	chr1:226112373-226112423	SAEC	small airway:	n/a
32	chr1:226124569-226124619	NT2-D1	testis:	n/a
33	chr1:226111804-226111854	AG09309	skin:	n/a
34	chr1:226112258-226112308	BE2_C	brain:	n/a
35	chr1:226112258-226112308	GM12892	blood:	n/a
36	chr1:226127694-226127744	AG04449	skin:	fetal
37	chr1:226112373-226112423	HIPEpiC	eye:	n/a
38	chr1:226107899-226107949	CMK	blood:	n/a
39	chr1:226112363-226112413	ovcar-3	ovarian:	n/a
40	chr1:226127290-226127340	HNPCEpiC	eye:	n/a
41	chr1:226110727-226110777	AG04449	skin:	fetal
42	chr1:226110727-226110777	SK-N-MC	brain:	n/a
43	chr1:226111974-226112024	HL-60	blood:	n/a
44	chr1:226113058-226113108	AG09319	gingival:	n/a
45	chr1:226127290-226127340	HRPEpiC	eye:	n/a
46	chr1:226112363-226112413	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:226112373-226112423	RPTEC	kidney:	n/a
48	chr1:226126862-226126912	HPAEpiC	pulmonary alveolar:	n/a
49	chr1:226127290-226127340	SK-N-SH	brain:	n/a
50	chr1:226110727-226110777	AG09319	gingival:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:226025653..226027789-chr1:226114675..226116510,2	K562	blood:
2	chr1:226036089..226038052-chr1:226109986..226111681,2	MCF-7	breast:
3	chr1:226067757..226070388-chr1:226097360..226099727,2	MCF-7	breast:
4	chr1:226069355..226071366-chr1:226115818..226117675,3	K562	blood:
5	chr1:226085907..226088745-chr1:226113166..226115980,2	K562	blood:
6	chr1:226110464..226115809-chr1:226185735..226190763,7	K562	blood:
7	chr1:226032713..226034460-chr1:226100032..226102843,2	MCF-7	breast:
8	chr1:225974348..225976521-chr1:226121252..226124139,2	K562	blood:
9	chr1:226111626..226112491-chrX:108780167..108780840,2	NB4	blood:
10	chr1:226084282..226085817-chr1:226093529..226096512,2	K562	blood:
11	chr1:226070165..226072280-chr1:226086600..226088627,2	K562	blood:
12	chr1:226085663..226088684-chr1:226110363..226113038,3	K562	blood:
13	chr1:226055732..226058409-chr1:226119393..226121117,2	K562	blood:
14	chr1:226068854..226071766-chr1:226104975..226107758,2	K562	blood:
15	chr1:226097429..226099250-chr1:226107461..226109744,3	MCF-7	breast:
16	chr1:226106739..226108269-chr1:226135055..226137378,2	K562	blood:
17	chr1:226119249..226122725-chr1:226127061..226129247,3	K562	blood:
18	chr1:226085907..226088745-chr1:226113166..226115980,2	K562	blood:
19	chr1:226103278..226105384-chr1:226143217..226145668,2	K562	blood:
20	chr1:226069867..226072382-chr1:226090714..226094341,4	MCF-7	breast:
21	chr1:226110432..226113669-chr17:59475384..59478027,3	MCF-7	breast:
22	chr1:226115016..226118116-chr1:226129058..226132265,3	K562	blood:
23	chr1:226116139..226117660-chr1:226183554..226185717,2	K562	blood:
24	chr1:226066440..226072029-chr1:226106315..226113044,10	MCF-7	breast:
25	chr1:226069654..226072085-chr1:226101693..226103533,2	MCF-7	breast:
26	chr1:226092808..226094499-chr1:226106559..226108210,2	MCF-7	breast:
27	chr1:226070971..226073106-chr1:226113461..226115401,2	MCF-7	breast:
28	chr1:226092799..226094915-chr1:226095358..226098019,2	MCF-7	breast:
29	chr1:226092808..226094499-chr1:226106559..226108210,2	MCF-7	breast:
30	chr1:226111283..226112258-chr19:41945016..41945997,2	Hela-S3	cervix:
31	chr1:226096836..226099303-chr1:226126858..226129548,2	K562	blood:
32	chr1:226092037..226094037-chr1:226096145..226097918,2	K562	blood:
33	chr1:226074434..226076913-chr1:226112743..226114387,2	K562	blood:
34	chr1:225963935..225966560-chr1:226115548..226117659,2	K562	blood:
35	chr1:226106901..226109503-chr1:226300176..226301873,2	K562	blood:
36	chr1:226092692..226094257-chr1:226110905..226113295,2	MCF-7	breast:
37	chr1:225964871..225966516-chr1:226110750..226112942,2	MCF-7	breast:
38	chr1:226085929..226088515-chr1:226102380..226104167,2	MCF-7	breast:
39	chr1:226094730..226096408-chr1:226161772..226163850,2	K562	blood:
40	chr1:226109718..226113155-chr1:226118910..226121755,3	K562	blood:
41	chr1:226096836..226099303-chr1:226126858..226129548,2	K562	blood:
42	chr1:226111849..226112644-chrX:117861485..117862049,2	HCT-116	colon:
43	chr1:226108702..226117785-chr1:226183554..226190529,14	K562	blood:
44	chr1:226086485..226088841-chr1:226103222..226105310,2	K562	blood:
45	chr1:226090023..226093610-chr1:226095075..226102171,8	K562	blood:
46	chr1:226096200..226098803-chr1:226109831..226112255,3	MCF-7	breast:
47	chr1:226111842..226114398-chr1:228644051..228646541,2	K562	blood:
48	chr1:226084737..226087614-chr1:226108761..226113097,5	K562	blood:
49	chr1:226119019..226120944-chr1:226187286..226188826,2	K562	blood:
50	chr1:226068298..226071251-chr1:226106254..226108786,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LEFTY1-2	chr1:226110840-226111471	NONHSAT009865
2	lnc-LEFTY1-2	chr1:226111611-226111700	NONHSAT009865

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6741-5p	chr1:226109816-226109837	MIMAT0027383
hsa-miR-6741-3p	chr1:226109780-226109801	MIMAT0027384

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	LEFTY2	hsa-miR-302d-3p	chr1:226124969-226124962
2	LEFTY2	hsa-miR-302a-3p	chr1:226124969-226124962
3	LEFTY2	hsa-miR-302a-3p	chr1:226124963-226124988
4	LEFTY2	hsa-miR-302d-3p	chr1:226124963-226124986

Variant related genes	Relation type
ENSG00000248322	TF binding region
PYCR2	TF binding region
LEFTY2	TF binding region
ENSG00000255835	TF binding region
LEFTY1	TF binding region
ENSG00000248322	CpG island
PYCR2	CpG island
LEFTY2	CpG island
ENSG00000255835	CpG island
LEFTY1	CpG island
ENSG00000163041	chromatin interactions
ENSG00000248322	chromatin interactions
ENSG00000101888	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000242861	chromatin interactions
ENSG00000243709	chromatin interactions
ENSG00000196187	chromatin interactions
ENSG00000143742	chromatin interactions
ENSG00000136485	chromatin interactions
ENSG00000143768	chromatin interactions
ENSG00000143751	chromatin interactions
ENSG00000143811	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000131724	chromatin interactions
ENSG00000105341	chromatin interactions

Extended variants
information (count: 1624 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1624 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574938235	chr1:226087232-226087233	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539346024	chr1:226087260-226087261	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs199878370	chr1:226087300-226087301	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547603892	chr1:226087356-226087357	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540982136	chr1:226087481-226087482	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375301710	chr1:226087609-226087610	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557985518	chr1:226087652-226087653	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573065413	chr1:226087665-226087666	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184221619	chr1:226087679-226087680	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561754504	chr1:226087697-226087698	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574963525	chr1:226087722-226087723	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542376812	chr1:226087724-226087725	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189025790	chr1:226087744-226087745	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs399710	chr1:226087749-226087750	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111578161	chr1:226087795-226087796	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181634120	chr1:226087831-226087832	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536553869	chr1:226087866-226087867	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs360075	chr1:226087883-226087884	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368798774	chr1:226087884-226087885	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs139617944	chr1:226087937-226087938	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568350972	chr1:226087949-226087950	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528946414	chr1:226087989-226087990	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112402288	chr1:226088012-226088013	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367998358	chr1:226088064-226088065	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs145250387	chr1:226088067-226088068	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147685874	chr1:226088070-226088071	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200548411	chr1:226088077-226088078	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201374418	chr1:226088078-226088079	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199592684	chr1:226088079-226088080	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200702278	chr1:226088081-226088082	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368106603	chr1:226088082-226088083	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12024351	chr1:226088084-226088085	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12025097	chr1:226088085-226088086	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs66510231	chr1:226088092-226088093	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557486497	chr1:226088141-226088142	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559130346	chr1:226088160-226088161	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185428622	chr1:226088162-226088163	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555583514	chr1:226088227-226088228	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs573919832	chr1:226088232-226088233	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1237433	chr1:226088280-226088281	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557442954	chr1:226088342-226088343	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs575815958	chr1:226088360-226088361	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546142997	chr1:226088381-226088382	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564353321	chr1:226088394-226088395	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570850297	chr1:226088430-226088431	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375778995	chr1:226088467-226088468	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371936888	chr1:226088468-226088469	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374651835	chr1:226088474-226088475	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111378779	chr1:226088491-226088492	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561941715	chr1:226088498-226088499	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Acute lymphoblastic leukemia	21098271	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
Developmental delay	21147756	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1649 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226077000-226099000	Weak transcription	Right Atrium	heart
2	chr1:226083800-226087600	Enhancers	Fetal Thymus	thymus
3	chr1:226084000-226087600	Enhancers	Thymus	Thymus
4	chr1:226084200-226087800	Enhancers	K562	blood
5	chr1:226084400-226088800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:226084600-226087400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:226084800-226087600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:226084800-226088000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:226084800-226088600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:226084800-226098800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:226085000-226087600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr1:226085000-226087600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:226085000-226087600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:226085000-226087600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:226085000-226087800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:226085000-226087800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr1:226085000-226098800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:226085000-226100200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:226085200-226087800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:226085600-226087600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:226085600-226087800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:226085600-226087800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:226085600-226088000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:226085800-226087400	Enhancers	Primary T cells from cord blood	blood
25	chr1:226085800-226087800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:226085800-226088000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:226086000-226087400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:226086000-226087800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:226086000-226087800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr1:226086000-226087800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:226086000-226087800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:226086000-226087800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr1:226086000-226088400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:226086000-226092000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:226086200-226098600	Weak transcription	Fetal Intestine Small	intestine
36	chr1:226086400-226087800	Enhancers	Lung	lung
37	chr1:226086600-226087400	Enhancers	Fetal Muscle Leg	muscle
38	chr1:226086600-226087600	Enhancers	HUVEC	blood vessel
39	chr1:226086600-226088000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr1:226086800-226087400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:226086800-226087600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:226087000-226087400	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:226087000-226087400	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr1:226087000-226087400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr1:226087000-226087600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr1:226087000-226095000	Weak transcription	Gastric	stomach
47	chr1:226087000-226097400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:226087000-226098800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:226087000-226098800	Weak transcription	Right Ventricle	heart
50	chr1:226087000-226100200	Weak transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links