Variant report

Variant	nsv872555
Chromosome Location	chr1:174343705-174565720
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:657)
CpG islands
(count:369)
Chromatin interactive
region (count:71)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:657 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:174382888-174383024	K562	blood:	n/a	n/a
2	ARID3A	chr1:174396120-174396181	K562	blood:	n/a	n/a
3	ATF1	chr1:174484804-174484808	K562	blood:	n/a	n/a
4	ATF1	chr1:174493199-174493227	K562	blood:	n/a	n/a
5	ATF1	chr1:174397299-174397520	K562	blood:	n/a	n/a
6	ATF1	chr1:174428850-174428929	K562	blood:	n/a	n/a
7	ATF1	chr1:174448222-174448255	K562	blood:	n/a	n/a
8	ATF2	chr1:174367341-174367790	GM12878	blood:	n/a	n/a
9	ATF2	chr1:174367318-174367778	GM12878	blood:	n/a	n/a
10	BACH1	chr1:174397283-174397435	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr1:174414983-174415353	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr1:174367311-174367749	GM12878	blood:	n/a	n/a
13	BATF	chr1:174367368-174367758	GM12878	blood:	n/a	n/a
14	BATF	chr1:174366370-174366656	GM12878	blood:	n/a	n/a
15	BATF	chr1:174497028-174497201	GM12878	blood:	n/a	n/a
16	BCL11A	chr1:174367324-174367782	GM12878	blood:	n/a	n/a
17	BCL11A	chr1:174367394-174367688	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:174367450-174367753	GM12878	blood:	n/a	n/a
19	BHLHE40	chr1:174394495-174394498	K562	blood:	n/a	n/a
20	BRCA1	chr1:174526022-174526025	H1-hESC	embryonic stem cell:	n/a	n/a
21	CBX3	chr1:174545240-174545642	K562	blood:	n/a	n/a
22	CBX3	chr1:174545300-174545553	K562	blood:	n/a	n/a
23	CCNT2	chr1:174397284-174397510	K562	blood:	n/a	n/a
24	CEBPB	chr1:174499539-174499642	K562	blood:	n/a	chr1:174499584-174499595
25	CEBPB	chr1:174470646-174470939	K562	blood:	n/a	chr1:174470809-174470826 chr1:174470812-174470825
26	CEBPB	chr1:174449527-174449790	HepG2	liver:	n/a	n/a
27	CEBPB	chr1:174470644-174470934	IMR90	lung:	n/a	chr1:174470809-174470826 chr1:174470812-174470825
28	CEBPB	chr1:174499436-174499752	IMR90	lung:	n/a	chr1:174499584-174499595
29	CEBPB	chr1:174367124-174367679	IMR90	lung:	n/a	n/a
30	CEBPB	chr1:174529584-174529888	A549	lung:	n/a	chr1:174529757-174529768
31	CEBPB	chr1:174499461-174499748	H1-hESC	embryonic stem cell:	n/a	chr1:174499584-174499595
32	CEBPB	chr1:174529604-174529937	HepG2	liver:	n/a	chr1:174529757-174529768
33	CEBPB	chr1:174375551-174375830	MCF-7	breast:	n/a	chr1:174375708-174375719 chr1:174375706-174375719
34	CEBPB	chr1:174553077-174553540	MCF-7	breast:	n/a	n/a
35	CEBPB	chr1:174529652-174529811	K562	blood:	n/a	chr1:174529757-174529768
36	CEBPB	chr1:174445621-174445931	HepG2	liver:	n/a	n/a
37	CEBPB	chr1:174470560-174470966	Hela-S3	cervix:	n/a	chr1:174470809-174470826 chr1:174470812-174470825
38	CEBPB	chr1:174397131-174397381	A549	lung:	n/a	chr1:174397283-174397300
39	CEBPB	chr1:174449511-174449685	K562	blood:	n/a	n/a
40	CEBPB	chr1:174436046-174436066	HepG2	liver:	n/a	n/a
41	CEBPB	chr1:174524277-174524548	IMR90	lung:	n/a	n/a
42	CEBPB	chr1:174547059-174547215	HepG2	liver:	n/a	n/a
43	CEBPB	chr1:174445784-174445786	K562	blood:	n/a	n/a
44	CEBPB	chr1:174539682-174539914	HepG2	liver:	n/a	chr1:174539752-174539763
45	CEBPB	chr1:174499409-174499760	HepG2	liver:	n/a	chr1:174499584-174499595
46	CEBPB	chr1:174470613-174470878	MCF-7	breast:	n/a	chr1:174470809-174470826 chr1:174470812-174470825
47	CEBPB	chr1:174470537-174471042	A549	lung:	n/a	chr1:174470809-174470826 chr1:174470812-174470825
48	CEBPB	chr1:174539639-174539846	K562	blood:	n/a	chr1:174539752-174539763
49	CEBPB	chr1:174470588-174471008	MCF-7	breast:	n/a	chr1:174470809-174470826 chr1:174470812-174470825
50	CEBPB	chr1:174470574-174470858	A549	lung:	n/a	chr1:174470809-174470826 chr1:174470812-174470825

(count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:174526483-174526533	NT2-D1	testis:	n/a
2	chr1:174417375-174417425	NHDF-neo	bronchial:	n/a
3	chr1:174417375-174417425	ProgFib	skin:	n/a
4	chr1:174526483-174526533	NT2-D1	testis:	n/a
5	chr1:174417375-174417425	NHDF-neo	bronchial:	n/a
6	chr1:174417375-174417425	ProgFib	skin:	n/a
7	chr1:174417375-174417425	GM19239	blood:	n/a
8	chr1:174565337-174565387	HCT-116	colon:	n/a
9	chr1:174417175-174417225	NH-A	brain:	n/a
10	chr1:174417175-174417225	HCM	heart:	n/a
11	chr1:174352684-174352734	U87	brain:	n/a
12	chr1:174417967-174418017	HNPCEpiC	eye:	n/a
13	chr1:174417967-174418017	HPAEpiC	pulmonary alveolar:	n/a
14	chr1:174352684-174352734	SAEC	small airway:	n/a
15	chr1:174417175-174417225	PFSK-1	brain:	n/a
16	chr1:174526483-174526533	Hela-S3	cervix:	n/a
17	chr1:174352684-174352734	AG09309	skin:	n/a
18	chr1:174526483-174526533	RPTEC	kidney:	n/a
19	chr1:174565337-174565387	AG04450	lung:	fetal
20	chr1:174417967-174418017	IMR90	lung:	fetal
21	chr1:174352684-174352734	ECC-1	luminal epithelium:	n/a
22	chr1:174565337-174565387	A549	lung:	n/a
23	chr1:174417175-174417225	Hepatocyte	liver:	n/a
24	chr1:174417375-174417425	AG04450	lung:	fetal
25	chr1:174417375-174417425	U87	brain:	n/a
26	chr1:174526483-174526533	HUVEC	blood vessel:	n/a
27	chr1:174417375-174417425	GM12892	blood:	n/a
28	chr1:174417375-174417425	SK-N-SH	brain:	n/a
29	chr1:174417175-174417225	HepG2	liver:	n/a
30	chr1:174417375-174417425	K562	blood:	n/a
31	chr1:174417967-174418017	Hepatocyte	liver:	n/a
32	chr1:174417175-174417225	PANC-1	pancreas:	n/a
33	chr1:174352684-174352734	GM06990	blood:	n/a
34	chr1:174417967-174418017	PANC-1	pancreas:	n/a
35	chr1:174352684-174352734	NHDF-neo	bronchial:	n/a
36	chr1:174526483-174526533	BE2_C	brain:	n/a
37	chr1:174565337-174565387	GM12878	blood:	n/a
38	chr1:174417375-174417425	HEK293	kidney:	embryo
39	chr1:174417375-174417425	HNPCEpiC	eye:	n/a
40	chr1:174565337-174565387	PFSK-1	brain:	n/a
41	chr1:174417967-174418017	HepG2	liver:	n/a
42	chr1:174565337-174565387	HMEC	breast:	n/a
43	chr1:174526483-174526533	AG04449	skin:	fetal
44	chr1:174417967-174418017	SAEC	small airway:	n/a
45	chr1:174565337-174565387	AG04449	skin:	fetal
46	chr1:174526483-174526533	CMK	blood:	n/a
47	chr1:174417375-174417425	RPTEC	kidney:	n/a
48	chr1:174565337-174565387	HCF	heart:	n/a
49	chr1:174352684-174352734	NT2-D1	testis:	n/a
50	chr1:174352684-174352734	SKMC	muscle:	n/a

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:174392997..174395880-chr1:174397869..174401974,3	K562	blood:
2	chr1:174485495..174487649-chr1:174503565..174506456,2	K562	blood:
3	chr1:174518114..174520798-chr1:174523440..174525540,2	MCF-7	breast:
4	chr1:174403554..174404054-chr10:47655569..47656367,2	NB4	blood:
5	chr1:174412862..174415441-chr1:174418910..174422017,3	K562	blood:
6	chr1:174419001..174421193-chr1:174434649..174437565,2	K562	blood:
7	chr1:174409687..174411251-chr1:174412999..174415751,2	K562	blood:
8	chr1:174409687..174411251-chr1:174412999..174415751,2	K562	blood:
9	chr1:174518114..174520798-chr1:174523440..174525540,2	MCF-7	breast:
10	chr1:174521191..174523406-chr1:174525648..174527204,2	MCF-7	breast:
11	chr1:174501105..174504016-chr1:174516125..174518683,2	K562	blood:
12	chr1:174427874..174429422-chr1:174431934..174434699,2	MCF-7	breast:
13	chr1:174357412..174359554-chr1:174362221..174364096,2	K562	blood:
14	chr1:174361556..174363386-chr1:174366777..174369174,2	K562	blood:
15	chr1:174418631..174420346-chr1:174546629..174548508,2	K562	blood:
16	chr1:174460451..174463330-chr1:174468900..174471148,2	K562	blood:
17	chr1:174527785..174529980-chr1:174530540..174532967,2	MCF-7	breast:
18	chr1:174524894..174527021-chr1:174528165..174529898,2	K562	blood:
19	chr1:174361556..174363386-chr1:174366777..174369174,2	K562	blood:
20	chr1:174420516..174421195-chr1:174712811..174713329,2	MCF-7	breast:
21	chr1:174544631..174547612-chr1:174552869..174554719,2	MCF-7	breast:
22	chr1:174418631..174420346-chr1:174546629..174548508,2	K562	blood:
23	chr1:174419001..174421193-chr1:174434649..174437565,2	K562	blood:
24	chr1:174367483..174370019-chr1:174372739..174376540,3	K562	blood:
25	chr1:174532659..174534724-chr1:174536541..174539409,2	K562	blood:
26	chr1:174536183..174536703-chr12:77045544..77046044,2	MCF-7	breast:
27	chr1:174522506..174524469-chr1:174526591..174528326,2	K562	blood:
28	chr1:174411537..174416184-chr1:174417800..174420410,5	K562	blood:
29	chr1:174537054..174539369-chr1:174541231..174544062,3	K562	blood:
30	chr1:174382494..174383374-chr1:174713222..174713791,2	MCF-7	breast:
31	chr1:173991563..173993480-chr1:174352055..174354802,2	K562	blood:
32	chr1:174501105..174504016-chr1:174516125..174518683,2	K562	blood:
33	chr1:174367483..174370019-chr1:174373894..174376540,2	K562	blood:
34	chr1:174478227..174480621-chr1:174484949..174486891,2	MCF-7	breast:
35	chr1:174460451..174463330-chr1:174468900..174471148,2	K562	blood:
36	chr1:174537431..174539369-chr1:174541884..174544062,2	K562	blood:
37	chr1:174445047..174445587-chr2:186343137..186343750,2	MCF-7	breast:
38	chr1:174423427..174424948-chr1:174426717..174429435,2	K562	blood:
39	chr1:174412862..174415441-chr1:174418910..174422017,3	K562	blood:
40	chr1:174358031..174358668-chr4:151874262..151874762,2	MCF-7	breast:
41	chr1:174367483..174370019-chr1:174372739..174376540,3	K562	blood:
42	chr1:174537431..174539369-chr1:174541884..174544062,2	K562	blood:
43	chr1:174458959..174461243-chr1:174465302..174467364,3	MCF-7	breast:
44	chr1:174409528..174411154-chr1:174416998..174418836,2	MCF-7	breast:
45	chr1:174468172..174471596-chr1:174473522..174476530,3	K562	blood:
46	chr1:174458959..174461243-chr1:174465302..174467364,3	MCF-7	breast:
47	chr1:174478227..174480621-chr1:174484949..174486891,2	MCF-7	breast:
48	chr1:174527785..174529980-chr1:174530540..174532967,2	MCF-7	breast:
49	chr1:174468172..174471596-chr1:174473522..174476530,3	K562	blood:
50	chr1:174367483..174370019-chr1:174373894..174376540,2	K562	blood:

No data

Variant related genes	Relation type
GPR52	TF binding region
GPR52	CpG island
ENSG00000203737	chromatin interactions
ENSG00000259942	chromatin interactions
ENSG00000224977	chromatin interactions

Extended variants
information (count: 7758 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:7758 , 50 per page) page: 1 2 3 4 5 6 7 ... 156

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10912773	chr1:174343705-174343706	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568920941	chr1:174343710-174343711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537814815	chr1:174343720-174343721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557992492	chr1:174343760-174343761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571945017	chr1:174343769-174343770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578070241	chr1:174343781-174343782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142431391	chr1:174343833-174343834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541246730	chr1:174343866-174343867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17301125	chr1:174343893-174343894	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs146852835	chr1:174344010-174344011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188362538	chr1:174344015-174344016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575331899	chr1:174344036-174344037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544220173	chr1:174344080-174344081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140649799	chr1:174344082-174344083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191721243	chr1:174344170-174344171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183600001	chr1:174344213-174344214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4651016	chr1:174344284-174344285	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs188349964	chr1:174344289-174344290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548882332	chr1:174344392-174344393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182016290	chr1:174344401-174344402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537728233	chr1:174344429-174344430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551787150	chr1:174344439-174344440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187627106	chr1:174344446-174344447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190466674	chr1:174344455-174344456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114657731	chr1:174344490-174344491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145721637	chr1:174344525-174344526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536811183	chr1:174344530-174344531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556771367	chr1:174344621-174344622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542754023	chr1:174344663-174344664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559577503	chr1:174344679-174344680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61828643	chr1:174344688-174344689	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138302825	chr1:174344712-174344713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564154602	chr1:174344754-174344755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577519894	chr1:174344755-174344756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181607917	chr1:174344779-174344780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559782567	chr1:174344790-174344791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371977972	chr1:174344844-174344845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529075910	chr1:174344909-174344910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548794649	chr1:174344933-174344934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562328881	chr1:174344945-174344946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58525721	chr1:174344965-174344966	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs140960018	chr1:174344973-174344974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571621873	chr1:174344997-174344998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533902680	chr1:174345016-174345017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547930177	chr1:174345028-174345029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537428285	chr1:174345051-174345052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536726797	chr1:174345067-174345068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186118221	chr1:174345075-174345076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61218633	chr1:174345093-174345094	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs539320608	chr1:174345096-174345097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
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
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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Autism	19404257	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:703 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174298000-174361800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:174310600-174362400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:174315600-174366400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:174318800-174369800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:174319200-174362600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:174322400-174363000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:174325800-174382800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:174326400-174346800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:174327400-174362000	Weak transcription	Primary T cells from cord blood	blood
10	chr1:174327600-174362200	Weak transcription	Aorta	Aorta
11	chr1:174328600-174343800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:174328600-174345600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:174328800-174347200	Weak transcription	Fetal Intestine Small	intestine
14	chr1:174328800-174366400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:174334800-174361800	Weak transcription	Left Ventricle	heart
16	chr1:174335000-174349600	Weak transcription	Pancreas	Pancrea
17	chr1:174335000-174361800	Weak transcription	Primary B cells from cord blood	blood
18	chr1:174339000-174345000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:174339400-174346600	Weak transcription	Fetal Heart	heart
20	chr1:174340200-174345200	Weak transcription	Adipose Nuclei	Adipose
21	chr1:174340400-174347000	Weak transcription	Thymus	Thymus
22	chr1:174341200-174353400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:174341800-174344000	Strong transcription	GM12878-XiMat	blood
24	chr1:174341800-174372200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:174342400-174346200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr1:174342600-174347000	Weak transcription	Dnd41	blood
27	chr1:174342800-174346600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:174343000-174344200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:174343000-174362200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:174344000-174362200	Weak transcription	GM12878-XiMat	blood
31	chr1:174346200-174346600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:174346600-174346800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
33	chr1:174346600-174346800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:174346800-174347200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:174346800-174362200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr1:174351000-174369000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:174352000-174366000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:174352200-174366400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:174352400-174353000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr1:174352600-174353000	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr1:174352600-174353200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr1:174352600-174353200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr1:174352600-174362800	Weak transcription	Fetal Intestine Large	intestine
44	chr1:174353000-174353200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:174353000-174353200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:174353000-174353400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr1:174353000-174353600	Active TSS	Fetal Heart	heart
48	chr1:174353000-174382600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:174353200-174353400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr1:174353200-174361600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links