Variant report

Variant	nsv542951
Chromosome Location	chr16:72509626-72693970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1171)
CpG islands
(count:244)
Chromatin interactive
region (count:56)
LncRNA
region (count:52)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1171 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:72521340-72521396	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:72600101-72600190	K562	blood:	n/a	n/a
3	ARID3A	chr16:72660653-72661134	HepG2	liver:	n/a	n/a
4	ATF1	chr16:72536079-72536345	K562	blood:	n/a	n/a
5	ATF1	chr16:72533635-72533801	K562	blood:	n/a	n/a
6	ATF2	chr16:72691449-72692161	GM12878	blood:	n/a	n/a
7	ATF2	chr16:72693050-72693448	GM12878	blood:	n/a	n/a
8	ATF2	chr16:72691570-72692052	GM12878	blood:	n/a	n/a
9	ATF2	chr16:72638345-72638710	GM12878	blood:	n/a	n/a
10	ATF2	chr16:72624356-72624753	GM12878	blood:	n/a	n/a
11	ATF2	chr16:72692970-72693473	GM12878	blood:	n/a	n/a
12	ATF2	chr16:72638266-72638667	GM12878	blood:	n/a	n/a
13	ATF2	chr16:72624338-72624875	GM12878	blood:	n/a	n/a
14	ATF3	chr16:72588963-72589148	K562	blood:	n/a	n/a
15	BATF	chr16:72638329-72638579	GM12878	blood:	n/a	n/a
16	BATF	chr16:72631866-72632250	GM12878	blood:	n/a	n/a
17	BATF	chr16:72516615-72516984	GM12878	blood:	n/a	n/a
18	BATF	chr16:72638293-72638581	GM12878	blood:	n/a	n/a
19	BATF	chr16:72536076-72536309	GM12878	blood:	n/a	n/a
20	BATF	chr16:72691622-72691928	GM12878	blood:	n/a	n/a
21	BATF	chr16:72624427-72624760	GM12878	blood:	n/a	n/a
22	BATF	chr16:72631890-72632232	GM12878	blood:	n/a	n/a
23	BCL11A	chr16:72631913-72632273	GM12878	blood:	n/a	n/a
24	BCL11A	chr16:72631934-72632158	GM12878	blood:	n/a	n/a
25	BCL11A	chr16:72624455-72624842	GM12878	blood:	n/a	n/a
26	BCL11A	chr16:72691655-72691946	GM12878	blood:	n/a	n/a
27	BCL11A	chr16:72624474-72624744	GM12878	blood:	n/a	n/a
28	BCLAF1	chr16:72691622-72692125	GM12878	blood:	n/a	n/a
29	BCLAF1	chr16:72535929-72536443	GM12878	blood:	n/a	n/a
30	BCLAF1	chr16:72691546-72692187	GM12878	blood:	n/a	n/a
31	BHLHE40	chr16:72627030-72627212	GM12878	blood:	n/a	n/a
32	BHLHE40	chr16:72631958-72632155	GM12878	blood:	n/a	n/a
33	BHLHE40	chr16:72536111-72536338	K562	blood:	n/a	n/a
34	BHLHE40	chr16:72638328-72638653	GM12878	blood:	n/a	n/a
35	BHLHE40	chr16:72636503-72636841	GM12878	blood:	n/a	n/a
36	BHLHE40	chr16:72691632-72692059	GM12878	blood:	n/a	n/a
37	BHLHE40	chr16:72643709-72644199	GM12878	blood:	n/a	chr16:72643973-72643994 chr16:72643979-72643988 chr16:72643978-72643987 chr16:72643979-72643988
38	BHLHE40	chr16:72536033-72536496	GM12878	blood:	n/a	n/a
39	BHLHE40	chr16:72587474-72587506	K562	blood:	n/a	n/a
40	BHLHE40	chr16:72624239-72625175	GM12878	blood:	n/a	n/a
41	BRCA1	chr16:72548113-72548248	H1-hESC	embryonic stem cell:	n/a	n/a
42	CBX3	chr16:72688493-72688708	K562	blood:	n/a	n/a
43	CCNT2	chr16:72584877-72584996	K562	blood:	n/a	n/a
44	CEBPB	chr16:72652470-72652798	K562	blood:	n/a	chr16:72652645-72652656
45	CEBPB	chr16:72612106-72612173	HepG2	liver:	n/a	chr16:72612114-72612125
46	CEBPB	chr16:72588960-72589231	HCT-116	colon:	n/a	chr16:72589069-72589080
47	CEBPB	chr16:72603621-72603944	K562	blood:	n/a	chr16:72603775-72603786
48	CEBPB	chr16:72693234-72693524	K562	blood:	n/a	chr16:72693415-72693426
49	CEBPB	chr16:72649524-72649853	HepG2	liver:	n/a	chr16:72649694-72649711 chr16:72649695-72649708 chr16:72649695-72649708 chr16:72649696-72649707
50	CEBPB	chr16:72644413-72644454	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:72602838-72602888	HRE	kidney:	n/a
2	chr16:72602838-72602888	GM19239	blood:	n/a
3	chr16:72516874-72516924	AG04449	skin:	fetal
4	chr16:72516874-72516924	SAEC	small airway:	n/a
5	chr16:72644371-72644421	NB4	blood:	n/a
6	chr16:72602838-72602888	HL-60	blood:	n/a
7	chr16:72659952-72660002	PrEC	prostate:	n/a
8	chr16:72659952-72660002	Hepatocyte	liver:	n/a
9	chr16:72659952-72660002	T-47D	breast:	n/a
10	chr16:72644371-72644421	GM12892	blood:	n/a
11	chr16:72602838-72602888	AG09309	skin:	n/a
12	chr16:72602838-72602888	A549	lung:	n/a
13	chr16:72644371-72644421	HCM	heart:	n/a
14	chr16:72659952-72660002	CMK	blood:	n/a
15	chr16:72659952-72660002	HPAEpiC	pulmonary alveolar:	n/a
16	chr16:72516874-72516924	T-47D	breast:	n/a
17	chr16:72516874-72516924	GM06990	blood:	n/a
18	chr16:72659952-72660002	NT2-D1	testis:	n/a
19	chr16:72659952-72660002	SAEC	small airway:	n/a
20	chr16:72602838-72602888	HEEpiC	esophagus:	n/a
21	chr16:72644371-72644421	SKMC	muscle:	n/a
22	chr16:72644371-72644421	HRPEpiC	eye:	n/a
23	chr16:72644371-72644421	SAEC	small airway:	n/a
24	chr16:72644371-72644421	MCF-7	breast:	n/a
25	chr16:72516874-72516924	HAEpiC	amniotic membrane:	n/a
26	chr16:72659952-72660002	PFSK-1	brain:	n/a
27	chr16:72659952-72660002	K562	blood:	n/a
28	chr16:72644371-72644421	PFSK-1	brain:	n/a
29	chr16:72602838-72602888	Hela-S3	cervix:	n/a
30	chr16:72644371-72644421	LNCaP	prostate:	n/a
31	chr16:72659952-72660002	SK-N-SH_RA	brain:	n/a
32	chr16:72516874-72516924	AoSMC	blood vessel:	n/a
33	chr16:72516874-72516924	Hela-S3	cervix:	n/a
34	chr16:72602838-72602888	HIPEpiC	eye:	n/a
35	chr16:72644371-72644421	HAEpiC	amniotic membrane:	n/a
36	chr16:72516874-72516924	AG09309	skin:	n/a
37	chr16:72644371-72644421	Hela-S3	cervix:	n/a
38	chr16:72516874-72516924	SK-N-SH	brain:	n/a
39	chr16:72659952-72660002	HAEpiC	amniotic membrane:	n/a
40	chr16:72644371-72644421	MCF10A-Er-Src	breast:	n/a
41	chr16:72602838-72602888	AG04449	skin:	fetal
42	chr16:72644371-72644421	GM06990	blood:	n/a
43	chr16:72659952-72660002	GM12891	blood:	n/a
44	chr16:72516874-72516924	NHDF-neo	bronchial:	n/a
45	chr16:72659952-72660002	HRCEpiC	kidney:	n/a
46	chr16:72659952-72660002	Hela-S3	cervix:	n/a
47	chr16:72644371-72644421	Jurkat	blood:	n/a
48	chr16:72644371-72644421	PrEC	prostate:	n/a
49	chr16:72516874-72516924	HNPCEpiC	eye:	n/a
50	chr16:72644371-72644421	HIPEpiC	eye:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:72563523..72565627-chr16:72572484..72574006,2	MCF-7	breast:
2	chr16:72625289..72626865-chr16:72628654..72630919,2	MCF-7	breast:
3	chr16:72654611..72656159-chr16:72657449..72659706,2	MCF-7	breast:
4	chr16:72508162..72510433-chr16:72510794..72512669,2	MCF-7	breast:
5	chr16:72621877..72623975-chr16:72629734..72632332,2	K562	blood:
6	chr16:72321878..72323763-chr16:72669997..72671521,2	K562	blood:
7	chr16:72691539..72694756-chr16:72697341..72699640,3	K562	blood:
8	chr16:72533574..72535315-chr16:72549246..72551228,2	MCF-7	breast:
9	chr16:72535869..72536485-chr16:72866539..72867122,2	MCF-7	breast:
10	chr16:72533667..72535695-chr16:73091048..73092778,3	MCF-7	breast:
11	chr16:72691145..72694013-chr16:72696469..72698836,2	MCF-7	breast:
12	chr16:72536168..72536728-chr16:73230597..73231356,2	MCF-7	breast:
13	chr16:72659577..72662381-chr16:72697498..72700901,3	MCF-7	breast:
14	chr16:72533574..72535315-chr16:72549246..72551228,2	MCF-7	breast:
15	chr16:72625289..72626865-chr16:72628654..72630919,2	MCF-7	breast:
16	chr16:72675986..72676856-chr6:10419351..10420325,2	Hela-S3	cervix:
17	chr16:72622601..72625359-chr16:72638031..72640326,2	MCF-7	breast:
18	chr16:72504730..72507157-chr16:72516819..72518970,2	MCF-7	breast:
19	chr16:72503607..72506590-chr16:72509410..72511219,2	K562	blood:
20	chr16:72563523..72565627-chr16:72572484..72574006,2	MCF-7	breast:
21	chr16:72677208..72679563-chr16:72684004..72686829,2	MCF-7	breast:
22	chr16:72535525..72537335-chr16:73089381..73091034,2	MCF-7	breast:
23	chr16:72535746..72536637-chr16:72880692..72881312,4	MCF-7	breast:
24	chr16:72648333..72650478-chr16:72650766..72653685,2	MCF-7	breast:
25	chr16:72536827..72539367-chr16:73079618..73082367,2	MCF-7	breast:
26	chr16:72655553..72658383-chr16:72661111..72662657,2	K562	blood:
27	chr16:72654611..72656159-chr16:72657449..72659706,2	MCF-7	breast:
28	chr16:72669032..72671616-chr16:72674123..72676628,2	MCF-7	breast:
29	chr16:72648333..72650478-chr16:72650766..72653685,2	MCF-7	breast:
30	chr16:72622601..72625359-chr16:72638031..72640326,2	MCF-7	breast:
31	chr16:72693256..72695401-chr16:72697626..72700207,2	K562	blood:
32	chr16:72582473..72585253-chr16:72697381..72699878,2	K562	blood:
33	chr16:72582473..72585253-chr16:72696264..72699878,3	K562	blood:
34	chr16:72669032..72671616-chr16:72674123..72676628,2	MCF-7	breast:
35	chr16:72678776..72681420-chr16:72696870..72699284,2	MCF-7	breast:
36	chr16:72522187..72523769-chr16:72524456..72527428,2	MCF-7	breast:
37	chr16:72658514..72662398-chr16:72669237..72673773,6	MCF-7	breast:
38	chr16:72522187..72523769-chr16:72524456..72527428,2	MCF-7	breast:
39	chr16:72647985..72650353-chr16:72650392..72652238,2	K562	blood:
40	chr16:72675320..72677736-chr16:72678355..72681301,2	MCF-7	breast:
41	chr16:72565797..72567323-chr16:73081102..73083814,2	MCF-7	breast:
42	chr16:72647985..72650353-chr16:72650392..72652238,2	K562	blood:
43	chr16:72675320..72677736-chr16:72678355..72681301,2	MCF-7	breast:
44	chr16:72681728..72684547-chr16:72686851..72689068,2	MCF-7	breast:
45	chr16:72684598..72691322-chr16:72693103..72699384,8	K562	blood:
46	chr16:72601285..72603828-chr16:72609527..72611174,2	MCF-7	breast:
47	chr16:72681728..72684547-chr16:72686851..72689068,2	MCF-7	breast:
48	chr16:72621877..72623975-chr16:72629734..72632332,2	K562	blood:
49	chr16:72651292..72654183-chr16:72655159..72657587,2	MCF-7	breast:
50	chr16:72651292..72654183-chr16:72655159..72657587,2	MCF-7	breast:

(count:52 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PMFBP1-4	chr16:72574477-72574510	NONHSAT143568
2	lnc-PMFBP1-4	chr16:72604334-72604414	ENSG00000261008.2
3	lnc-DHX38-20	chr16:72568314-72569463	NONHSAT143587
4	lnc-DHX38-18	chr16:72532180-72532556	NONHSAT143581
5	lnc-ZFHX3-4	chr16:72655197-72655587	NONHSAT143593
6	lnc-PMFBP1-4	chr16:72556037-72556522	ENSG00000261008.2
7	lnc-PMFBP1-4	chr16:72556213-72556522	NONHSAT143568
8	lnc-PMFBP1-4	chr16:72557231-72557316	NONHSAT143568
9	lnc-PMFBP1-4	chr16:72604380-72604414	ENSG00000261008.2
10	lnc-DHX38-13	chr16:72509533-72509983	NONHSAT143575
11	lnc-PMFBP1-4	chr16:72644281-72644638	NONHSAT143568
12	lnc-PMFBP1-4	chr16:72589164-72589225	ENSG00000261008.2
13	lnc-DHX38-15	chr16:72520938-72521194	NONHSAT143578
14	lnc-ZFHX3-4	chr16:72672901-72673097	NONHSAT143593
15	lnc-PMFBP1-4	chr16:72661434-72661585	ENSG00000261008.2
16	lnc-PMFBP1-4	chr16:72595872-72595985	ENSG00000261008.2
17	lnc-PMFBP1-4	chr16:72574477-72574510	ENSG00000261008.2
18	lnc-PMFBP1-4	chr16:72589164-72589225	ENSG00000261008.2
19	lnc-DHX38-22	chr16:72656278-72656454	NONHSAT143594
20	lnc-PMFBP1-4	chr16:72651082-72651133	NONHSAT143568
21	lnc-PMFBP1-4	chr16:72604350-72604414	ENSG00000261008.2
22	lnc-PMFBP1-4	chr16:72557231-72557314	ENSG00000261008.2
23	lnc-PMFBP1-4	chr16:72513582-72513689	ENSG00000261008.2
24	lnc-PMFBP1-4	chr16:72557231-72557314	ENSG00000261008.2
25	lnc-DHX38-3	chr16:72567754-72568088	NONHSAT143586
26	lnc-DHX38-22	chr16:72669602-72672746	NONHSAT143594
27	lnc-PMFBP1-4	chr16:72651082-72651133	ENSG00000261008.2
28	lnc-DHX38-3	chr16:72567994-72568195	NONHSAT143584
29	lnc-ZFHX3-6	chr16:72608706-72609062	NONHSAT143590
30	lnc-DHX38-16	chr16:72522490-72524984	NONHSAT143579
31	lnc-DHX38-22	chr16:72673233-72673701	NONHSAT143594
32	lnc-DHX38-3	chr16:72563081-72563137	NONHSAT143584
33	lnc-PMFBP1-4	chr16:72589163-72589225	NONHSAT143568
34	lnc-ZFHX3-5	chr16:72611537-72611982	NONHSAT143591
35	lnc-PMFBP1-4	chr16:72557231-72557314	ENSG00000261008.2
36	lnc-PMFBP1-4	chr16:72651238-72651452	ENSG00000261008.2
37	lnc-PMFBP1-4	chr16:72604334-72604412	NONHSAT143568
38	lnc-DHX38-3	chr16:72566858-72567788	XLOC_011780
39	lnc-PMFBP1-4	chr16:72670825-72671358	NONHSAT143568
40	lnc-PMFBP1-4	chr16:72513650-72513689	ENSG00000261008.2
41	lnc-DHX38-19	chr16:72564835-72566251	NONHSAT143585
42	lnc-DHX38-18	chr16:72531937-72532168	NONHSAT143581
43	lnc-PMFBP1-4	chr16:72604334-72604414	ENSG00000261008.2
44	lnc-PMFBP1-4	chr16:72661434-72661585	ENSG00000261008.2
45	lnc-PMFBP1-4	chr16:72525803-72525865	ENSG00000261008.2
46	lnc-PMFBP1-4	chr16:72589164-72589225	ENSG00000261008.2
47	lnc-DHX38-17	chr16:72525180-72526035	NONHSAT143580
48	lnc-PMFBP1-4	chr16:72651082-72651133	ENSG00000261008.2
49	lnc-PMFBP1-4	chr16:72651082-72651133	ENSG00000261008.2
50	lnc-PMFBP1-4	chr16:72574477-72574510	ENSG00000261008.2

No data

Variant related genes	Relation type
ENSG00000221286	TF binding region
ENSG00000261008	TF binding region
ENSG00000221286	CpG island
ENSG00000261008	CpG island
ENSG00000259768	chromatin interactions
ENSG00000140836	chromatin interactions
ENSG00000261008	chromatin interactions
ENSG00000137203	chromatin interactions
SFRS13A	miRNA target sites
CEPT1	miRNA target sites
NOTCH2	miRNA target sites
EGR1	miRNA target sites
EZR	miRNA target sites
NHSL2	miRNA target sites
AKAP12	miRNA target sites

Extended variants
information (count: 6538 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:6538 , 50 per page) page: 1 2 3 4 5 6 7 ... 131

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537626683	chr16:72509640-72509641	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs532233782	chr16:72509684-72509685	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs555467068	chr16:72509739-72509740	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs550664689	chr16:72509763-72509764	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs568895816	chr16:72509833-72509834	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs536234245	chr16:72509836-72509837	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs117914085	chr16:72509864-72509865	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs540141375	chr16:72509974-72509975	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs560472893	chr16:72509978-72509979	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs191824402	chr16:72509987-72509988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183116913	chr16:72510016-72510017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576923037	chr16:72510050-72510051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78367426	chr16:72510087-72510088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557007255	chr16:72510131-72510132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34495043	chr16:72510310-72510311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549238235	chr16:72510349-72510350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188190111	chr16:72510364-72510365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76517585	chr16:72510391-72510392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374084192	chr16:72510481-72510482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539921720	chr16:72510494-72510495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189763662	chr16:72510539-72510540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540520938	chr16:72510540-72510541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531388118	chr16:72510629-72510630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561799784	chr16:72510653-72510654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77199532	chr16:72510711-72510712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532572705	chr16:72510755-72510756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16970967	chr16:72510756-72510757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs34866906	chr16:72510872-72510873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397855608	chr16:72510878-72510879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115782851	chr16:72510885-72510886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529758106	chr16:72510936-72510937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150753654	chr16:72510942-72510943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182105775	chr16:72511032-72511033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139082557	chr16:72511037-72511038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187761975	chr16:72511039-72511040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149937628	chr16:72511066-72511067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192342665	chr16:72511115-72511116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146477254	chr16:72511130-72511131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141126864	chr16:72511175-72511176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557066492	chr16:72511221-72511222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575324497	chr16:72511274-72511275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542657725	chr16:72511301-72511302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554949884	chr16:72511329-72511330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573112321	chr16:72511345-72511346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370188464	chr16:72511369-72511370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34517704	chr16:72511374-72511375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554146686	chr16:72511455-72511456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565420788	chr16:72511457-72511458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201011013	chr16:72511487-72511488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532789661	chr16:72511502-72511503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72494600-72516800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:72507600-72510000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr16:72507800-72509800	Enhancers	HSMM	muscle
4	chr16:72507800-72509800	Enhancers	NH-A	brain
5	chr16:72507800-72510000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr16:72508200-72509800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:72508600-72510000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:72508800-72509800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:72509000-72514400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr16:72509200-72509800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr16:72509400-72514800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:72509600-72509800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:72509600-72510200	Enhancers	Fetal Heart	heart
14	chr16:72509800-72515000	Weak transcription	NH-A	brain
15	chr16:72509800-72521400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:72510000-72514200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr16:72510000-72514600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr16:72510000-72515200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:72510200-72510600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr16:72510200-72515000	Weak transcription	Fetal Heart	heart
21	chr16:72511000-72515200	Weak transcription	Dnd41	blood
22	chr16:72513600-72513800	Enhancers	Fetal Thymus	thymus
23	chr16:72514000-72515000	Weak transcription	Fetal Thymus	thymus
24	chr16:72514200-72517000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr16:72514200-72517600	Enhancers	HUVEC	blood vessel
26	chr16:72514400-72516800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr16:72514400-72517600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr16:72514600-72515600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:72514600-72515600	Enhancers	HSMM	muscle
30	chr16:72514600-72515800	Enhancers	Hela-S3	cervix
31	chr16:72514600-72516000	Enhancers	Primary T cells from cord blood	blood
32	chr16:72514600-72516000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr16:72514600-72517000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr16:72514600-72517000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr16:72514600-72517600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr16:72514800-72515200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:72514800-72515200	Enhancers	NHDF-Ad	bronchial
38	chr16:72514800-72515400	Enhancers	HSMMtube	muscle
39	chr16:72514800-72516200	Enhancers	Primary B cells from peripheral blood	blood
40	chr16:72514800-72516200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:72515000-72515200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr16:72515000-72515200	Active TSS	Fetal Heart	heart
43	chr16:72515000-72515400	Enhancers	Adipose Nuclei	Adipose
44	chr16:72515000-72515400	Enhancers	NH-A	brain
45	chr16:72515000-72515600	Enhancers	Osteobl	bone
46	chr16:72515000-72515800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:72515000-72515800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr16:72515000-72516200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr16:72515000-72516400	Enhancers	Fetal Thymus	thymus
50	chr16:72515200-72515600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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