Variant report

Variant	nsv2655
Chromosome Location	chr1:145117496-145218404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2238)
CpG islands
(count:855)
Chromatin interactive
region (count:34)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2238 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145208951-145209121	K562	blood:	n/a	chr1:145209007-145209015
2	ARID3A	chr1:145208929-145209290	HepG2	liver:	n/a	chr1:145209007-145209015
3	ATF1	chr1:145216140-145216326	K562	blood:	n/a	n/a
4	ATF1	chr1:145208937-145209133	K562	blood:	n/a	n/a
5	ATF1	chr1:145195978-145196042	K562	blood:	n/a	n/a
6	ATF1	chr1:145117631-145118374	K562	blood:	n/a	n/a
7	ATF2	chr1:145129724-145130023	GM12878	blood:	n/a	n/a
8	ATF2	chr1:145159486-145159715	GM12878	blood:	n/a	n/a
9	ATF2	chr1:145129655-145130099	GM12878	blood:	n/a	n/a
10	ATF2	chr1:145208822-145209212	GM12878	blood:	n/a	n/a
11	ATF3	chr1:145208827-145209217	A549	lung:	n/a	n/a
12	ATF3	chr1:145208814-145209112	A549	lung:	n/a	n/a
13	BACH1	chr1:145208936-145209146	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr1:145122815-145123217	GM12878	blood:	n/a	n/a
15	BATF	chr1:145210057-145210394	GM12878	blood:	n/a	n/a
16	BATF	chr1:145159043-145159865	GM12878	blood:	n/a	n/a
17	BATF	chr1:145189103-145189407	GM12878	blood:	n/a	n/a
18	BATF	chr1:145195914-145196301	GM12878	blood:	n/a	n/a
19	BATF	chr1:145153039-145153342	GM12878	blood:	n/a	n/a
20	BATF	chr1:145171479-145171789	GM12878	blood:	n/a	n/a
21	BATF	chr1:145154309-145155270	GM12878	blood:	n/a	n/a
22	BATF	chr1:145208490-145209291	GM12878	blood:	n/a	chr1:145209134-145209142
23	BATF	chr1:145152894-145153398	GM12878	blood:	n/a	n/a
24	BATF	chr1:145139292-145139563	GM12878	blood:	n/a	n/a
25	BATF	chr1:145159059-145159858	GM12878	blood:	n/a	n/a
26	BATF	chr1:145210338-145210530	GM12878	blood:	n/a	n/a
27	BATF	chr1:145122920-145123245	GM12878	blood:	n/a	n/a
28	BATF	chr1:145128460-145128759	GM12878	blood:	n/a	n/a
29	BATF	chr1:145138847-145139124	GM12878	blood:	n/a	n/a
30	BATF	chr1:145212001-145212472	GM12878	blood:	n/a	n/a
31	BATF	chr1:145213599-145213876	GM12878	blood:	n/a	n/a
32	BATF	chr1:145154286-145155318	GM12878	blood:	n/a	n/a
33	BATF	chr1:145129688-145130263	GM12878	blood:	n/a	n/a
34	BATF	chr1:145210075-145210284	GM12878	blood:	n/a	n/a
35	BATF	chr1:145209382-145209998	GM12878	blood:	n/a	n/a
36	BATF	chr1:145138847-145139218	GM12878	blood:	n/a	n/a
37	BATF	chr1:145212132-145212476	GM12878	blood:	n/a	n/a
38	BATF	chr1:145129645-145130292	GM12878	blood:	n/a	n/a
39	BCL11A	chr1:145154296-145155300	GM12878	blood:	n/a	n/a
40	BCL11A	chr1:145208600-145209261	GM12878	blood:	n/a	chr1:145209027-145209040 chr1:145209045-145209058 chr1:145209041-145209054 chr1:145209010-145209019
41	BCL11A	chr1:145129685-145130188	GM12878	blood:	n/a	chr1:145129761-145129770
42	BCL11A	chr1:145138954-145139127	GM12878	blood:	n/a	n/a
43	BCL11A	chr1:145215568-145215820	GM12878	blood:	n/a	n/a
44	BCL11A	chr1:145159326-145159774	GM12878	blood:	n/a	chr1:145159481-145159490
45	BCL11A	chr1:145139734-145139968	GM12878	blood:	n/a	chr1:145139838-145139847
46	BCL11A	chr1:145153041-145153282	GM12878	blood:	n/a	n/a
47	BCL11A	chr1:145139604-145139939	GM12878	blood:	n/a	chr1:145139838-145139847
48	BCL11A	chr1:145195841-145196148	GM12878	blood:	n/a	n/a
49	BCL11A	chr1:145208329-145208557	GM12878	blood:	n/a	n/a
50	BCL11A	chr1:145138795-145139137	GM12878	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145209830-145209880	MCF10A-Er-Src	breast:	n/a
2	chr1:145209830-145209880	MCF10A-Er-Src	breast:	n/a
3	chr1:145207943-145207993	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:145213338-145213388	GM12892	blood:	n/a
5	chr1:145205174-145205224	GM06990	blood:	n/a
6	chr1:145209236-145209286	AG10803	skin:	n/a
7	chr1:145139679-145139729	AoSMC	blood vessel:	n/a
8	chr1:145210014-145210064	MCF10A-Er-Src	breast:	n/a
9	chr1:145139908-145139958	CMK	blood:	n/a
10	chr1:145210014-145210064	AG09319	gingival:	n/a
11	chr1:145209830-145209880	SK-N-SH	brain:	n/a
12	chr1:145207943-145207993	HCF	heart:	n/a
13	chr1:145209930-145209980	Jurkat	blood:	n/a
14	chr1:145209236-145209286	NT2-D1	testis:	n/a
15	chr1:145205174-145205224	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:145139473-145139523	MCF-7	breast:	n/a
17	chr1:145213338-145213388	IMR90	lung:	fetal
18	chr1:145207943-145207993	HepG2	liver:	n/a
19	chr1:145207943-145207993	NH-A	brain:	n/a
20	chr1:145210014-145210064	LNCaP	prostate:	n/a
21	chr1:145209930-145209980	CMK	blood:	n/a
22	chr1:145139908-145139958	ECC-1	luminal epithelium:	n/a
23	chr1:145139679-145139729	HEEpiC	esophagus:	n/a
24	chr1:145209236-145209286	HCPEpiC	choroid plexus:	n/a
25	chr1:145209930-145209980	SAEC	small airway:	n/a
26	chr1:145213338-145213388	PrEC	prostate:	n/a
27	chr1:145139908-145139958	IMR90	lung:	fetal
28	chr1:145211389-145211439	Hela-S3	cervix:	n/a
29	chr1:145209236-145209286	AG04450	lung:	fetal
30	chr1:145209830-145209880	HRE	kidney:	n/a
31	chr1:145139679-145139729	AG09319	gingival:	n/a
32	chr1:145208980-145209030	SKMC	muscle:	n/a
33	chr1:145207943-145207993	AG10803	skin:	n/a
34	chr1:145208980-145209030	HRPEpiC	eye:	n/a
35	chr1:145208980-145209030	CMK	blood:	n/a
36	chr1:145139063-145139113	SKMC	muscle:	n/a
37	chr1:145139473-145139523	U87	brain:	n/a
38	chr1:145209236-145209286	ProgFib	skin:	n/a
39	chr1:145139679-145139729	HRPEpiC	eye:	n/a
40	chr1:145205174-145205224	BE2_C	brain:	n/a
41	chr1:145210014-145210064	AoSMC	blood vessel:	n/a
42	chr1:145205174-145205224	K562	blood:	n/a
43	chr1:145207943-145207993	AoSMC	blood vessel:	n/a
44	chr1:145139063-145139113	HCT-116	colon:	n/a
45	chr1:145139473-145139523	NH-A	brain:	n/a
46	chr1:145139908-145139958	NHBE	bronchial:	n/a
47	chr1:145209930-145209980	AG04450	lung:	fetal
48	chr1:145208980-145209030	GM19239	blood:	n/a
49	chr1:145139896-145139946	HPAEpiC	pulmonary alveolar:	n/a
50	chr1:145139896-145139946	Jurkat	blood:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:145116481..145119033-chr1:145122356..145124040,2	K562	blood:
2	chr1:145130093..145132779-chr1:145291052..145292604,2	K562	blood:
3	chr1:120602747..120604407-chr1:145216153..145218112,2	MCF-7	breast:
4	chr1:120611803..120612535-chr1:145208972..145209627,6	MCF-7	breast:
5	chr1:145207909..145210605-chr1:145214441..145216644,2	MCF-7	breast:
6	chr1:145134469..145136133-chr1:145381459..145383025,2	MCF-7	breast:
7	chr1:120611941..120612674-chr1:145209107..145209637,6	MCF-7	breast:
8	chr1:145210633..145213326-chr1:149222498..149224954,2	MCF-7	breast:
9	chr1:145128744..145130626-chr1:145382573..145384459,2	MCF-7	breast:
10	chr1:145112491..145115929-chr1:145116059..145118132,3	MCF-7	breast:
11	chr1:120691948..120694351-chr1:145121998..145123840,2	K562	blood:
12	chr1:145116552..145118106-chr1:145382522..145384612,2	MCF-7	breast:
13	chr1:145193254..145195284-chr1:145382712..145384267,2	MCF-7	breast:
14	chr1:120610124..120613523-chr1:145208226..145211226,7	MCF-7	breast:
15	chr1:120606120..120607638-chr1:145207438..145208952,2	MCF-7	breast:
16	chr1:120695533..120698286-chr1:145117724..145120322,3	MCF-7	breast:
17	chr1:120610094..120613669-chr1:145207447..145211087,11	MCF-7	breast:
18	chr1:145138455..145140955-chr1:145381729..145384293,2	MCF-7	breast:
19	chr1:145209779..145211659-chr1:145381647..145384503,2	MCF-7	breast:
20	chr1:145208214..145210170-chr1:145381446..145384467,3	MCF-7	breast:
21	chr1:145209043..145210611-chr1:149222292..149224968,3	MCF-7	breast:
22	chr1:145124431..145127072-chr1:145381606..145383214,2	K562	blood:
23	chr1:120688084..120688694-chr1:145126764..145127269,2	MCF-7	breast:
24	chr1:145116481..145119033-chr1:145122356..145124040,2	K562	blood:
25	chr1:145208945..145211572-chr1:145290799..145293780,3	MCF-7	breast:
26	chr1:120611958..120612515-chr1:145208972..145209639,2	NB4	blood:
27	chr1:120691335..120693666-chr1:145121579..145124482,2	MCF-7	breast:
28	chr1:145137959..145140660-chr1:145381811..145384748,2	K562	blood:
29	chr1:145115000..145117272-chr1:145119775..145122289,2	MCF-7	breast:
30	chr1:53163301..53163992-chr1:145209547..145210339,2	Hela-S3	cervix:
31	chr1:145209133..145210911-chr1:145213297..145216185,2	MCF-7	breast:
32	chr1:120611825..120612753-chr1:145208933..145209629,3	Hela-S3	cervix:
33	chr1:145209931..145210445-chr19:58874333..58874839,2	Hela-S3	cervix:
34	chr1:145209435..145210070-chr1:145293272..145293941,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NBPF10-1	chr1:145213108-145213374	expReg_chr1_15650_+
2	lnc-PDE4DIP-6	chr1:145200338-145200891	ENSG00000272709.1

No data

Variant related genes	Relation type
NUDT4P1	TF binding region
ENSG00000272709	TF binding region
NOTCH2NL	TF binding region
ENSG00000255168	TF binding region
RNU6-1071P	TF binding region
NUDT4P1	CpG island
ENSG00000272709	CpG island
NOTCH2NL	CpG island
ENSG00000255168	CpG island
RNU6-1071P	CpG island
ENSG00000201558	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000163386	chromatin interactions
ENSG00000252211	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000134250	chromatin interactions
ENSG00000273131	chromatin interactions
ENSG00000213240	chromatin interactions
ENSG00000162377	chromatin interactions
ENSG00000255168	chromatin interactions

Extended variants
information (count: 2979 )
Associated
traits (count: 174 )

Variant overlapped rSNPs/rCNVs (count:2979 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6701945	chr1:145117585-145117586	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1445046	chr1:145117589-145117590	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs587623214	chr1:145117600-145117601	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs587678712	chr1:145117625-145117626	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs587769689	chr1:145117632-145117633	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1445045	chr1:145117719-145117720	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs587643675	chr1:145117722-145117723	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs587723354	chr1:145117775-145117776	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs71811407	chr1:145117798-145117799	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs10797636	chr1:145117818-145117819	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs4529775	chr1:145117904-145117905	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs1822847	chr1:145117946-145117947	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs56372353	chr1:145117966-145117967	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs587730280	chr1:145118062-145118063	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs587632254	chr1:145118066-145118067	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs587683212	chr1:145118127-145118128	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2655561	chr1:145118171-145118172	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs587767041	chr1:145118222-145118223	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111644060	chr1:145118343-145118344	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs587642679	chr1:145118369-145118370	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs6702148	chr1:145118378-145118379	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs587687657	chr1:145118396-145118397	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112246985	chr1:145118435-145118436	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76800587	chr1:145118436-145118437	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2197431	chr1:145118473-145118474	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs587767509	chr1:145118506-145118507	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370973486	chr1:145118547-145118548	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377712543	chr1:145118549-145118550	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs587640641	chr1:145118666-145118667	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138498800	chr1:145118716-145118717	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs587717062	chr1:145118763-145118764	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142536726	chr1:145118816-145118817	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs587595572	chr1:145118822-145118823	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs587648435	chr1:145118885-145118886	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs587699387	chr1:145118920-145118921	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs199640831	chr1:145118943-145118944	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372698874	chr1:145118949-145118950	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs587621415	chr1:145118967-145118968	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs587688964	chr1:145118979-145118980	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12035161	chr1:145119017-145119018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs146968548	chr1:145119018-145119019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs587768431	chr1:145119048-145119049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200681372	chr1:145119094-145119095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371307274	chr1:145119238-145119239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs199559787	chr1:145119324-145119325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375892007	chr1:145119360-145119361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs587671912	chr1:145119371-145119372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs587733449	chr1:145119398-145119399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs587624913	chr1:145119469-145119470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs587686483	chr1:145119489-145119490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:174)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20531469	CNVD
Autism	20858243	CNVD
Autism	22543975	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Autism	20808228	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:2329 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145097800-145118000	Weak transcription	Colonic Mucosa	Colon
2	chr1:145097800-145130000	Weak transcription	Right Ventricle	heart
3	chr1:145098200-145118000	Weak transcription	Brain Angular Gyrus	brain
4	chr1:145098200-145118000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:145098200-145122400	Weak transcription	Brain Substantia Nigra	brain
6	chr1:145098400-145118000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:145099800-145119400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:145099800-145122400	Weak transcription	Brain Germinal Matrix	brain
9	chr1:145100400-145118000	Weak transcription	Small Intestine	intestine
10	chr1:145109200-145118200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:145109200-145118400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr1:145110000-145118200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:145110200-145122000	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:145110400-145119600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:145110800-145118400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:145111200-145118400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:145111600-145118000	Weak transcription	Fetal Stomach	stomach
18	chr1:145111600-145118400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:145111600-145122600	Weak transcription	Spleen	Spleen
20	chr1:145112600-145119600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:145113200-145117800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:145113200-145129600	Weak transcription	Fetal Heart	heart
23	chr1:145113800-145121600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:145114400-145118400	Genic enhancers	HSMM	muscle
25	chr1:145114600-145118000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:145114800-145118400	Strong transcription	Primary hematopoietic stem cells	blood
27	chr1:145114800-145120200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:145115000-145119600	Weak transcription	Fetal Brain Male	brain
29	chr1:145115200-145130000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:145115400-145118400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:145115400-145118400	Strong transcription	NH-A	brain
32	chr1:145115400-145118400	Genic enhancers	Osteobl	bone
33	chr1:145115600-145117800	Weak transcription	Hela-S3	cervix
34	chr1:145115600-145118000	Genic enhancers	NHDF-Ad	bronchial
35	chr1:145115600-145118400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:145115600-145118400	Strong transcription	Liver	Liver
37	chr1:145115600-145118400	Strong transcription	Fetal Intestine Large	intestine
38	chr1:145115600-145120200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:145115600-145128200	Weak transcription	HMEC	breast
40	chr1:145115800-145118200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:145115800-145118400	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr1:145115800-145118400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:145115800-145118400	Genic enhancers	Adipose Nuclei	Adipose
44	chr1:145115800-145118400	Strong transcription	HUVEC	blood vessel
45	chr1:145116000-145117600	Weak transcription	Fetal Lung	lung
46	chr1:145116200-145117600	Weak transcription	Brain Anterior Caudate	brain
47	chr1:145116200-145117600	Weak transcription	Psoas Muscle	Psoas
48	chr1:145116200-145117800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr1:145116200-145117800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr1:145116200-145117800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

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