Variant report

Variant	nsv527918
Chromosome Location	chr1:180279710-180443808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:812)
CpG islands
(count:122)
Chromatin interactive
region (count:98)
LncRNA
region (count:9)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:812 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:180279457-180279973	HepG2	liver:	n/a	n/a
2	ATF1	chr1:180379529-180379568	K562	blood:	n/a	n/a
3	ATF1	chr1:180398354-180398477	K562	blood:	n/a	n/a
4	ATF1	chr1:180361304-180361367	K562	blood:	n/a	n/a
5	ATF1	chr1:180442874-180442956	K562	blood:	n/a	n/a
6	ATF1	chr1:180435578-180435589	K562	blood:	n/a	n/a
7	BACH1	chr1:180427725-180427876	K562	blood:	n/a	n/a
8	BACH1	chr1:180386975-180387028	K562	blood:	n/a	n/a
9	BATF	chr1:180372837-180373078	GM12878	blood:	n/a	n/a
10	BHLHE40	chr1:180334255-180334524	K562	blood:	n/a	n/a
11	BRCA1	chr1:180329593-180329685	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr1:180324189-180324264	H1-hESC	embryonic stem cell:	n/a	n/a
13	CBX3	chr1:180431244-180431537	K562	blood:	n/a	n/a
14	CBX3	chr1:180334184-180334500	HCT-116	colon:	n/a	n/a
15	CBX3	chr1:180385127-180385514	K562	blood:	n/a	n/a
16	CBX3	chr1:180348586-180348968	K562	blood:	n/a	n/a
17	CBX3	chr1:180349374-180349774	K562	blood:	n/a	n/a
18	CCNT2	chr1:180385308-180385408	K562	blood:	n/a	n/a
19	CEBPB	chr1:180411850-180411888	K562	blood:	n/a	n/a
20	CEBPB	chr1:180398123-180398505	IMR90	lung:	n/a	chr1:180398307-180398318
21	CEBPB	chr1:180381735-180382093	K562	blood:	n/a	n/a
22	CEBPB	chr1:180409530-180409722	K562	blood:	n/a	chr1:180409651-180409662
23	CEBPB	chr1:180351493-180351641	IMR90	lung:	n/a	n/a
24	CEBPB	chr1:180381696-180382185	MCF-7	breast:	n/a	n/a
25	CEBPB	chr1:180409552-180409730	Hela-S3	cervix:	n/a	chr1:180409651-180409662
26	CEBPB	chr1:180366370-180366611	MCF-7	breast:	n/a	chr1:180366529-180366540 chr1:180366518-180366529
27	CEBPB	chr1:180381716-180382102	K562	blood:	n/a	n/a
28	CEBPB	chr1:180400832-180401196	A549	lung:	n/a	n/a
29	CEBPB	chr1:180381719-180382060	MCF-7	breast:	n/a	n/a
30	CEBPB	chr1:180409501-180409785	HepG2	liver:	n/a	chr1:180409651-180409662
31	CEBPB	chr1:180381782-180382051	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr1:180366360-180366690	IMR90	lung:	n/a	chr1:180366529-180366540 chr1:180366518-180366529
33	CEBPB	chr1:180316959-180316962	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr1:180366355-180366681	A549	lung:	n/a	chr1:180366529-180366540 chr1:180366518-180366529
35	CEBPB	chr1:180334435-180334444	A549	lung:	n/a	n/a
36	CEBPB	chr1:180418013-180418191	K562	blood:	n/a	n/a
37	CEBPB	chr1:180398171-180398565	Hela-S3	cervix:	n/a	chr1:180398307-180398318
38	CEBPB	chr1:180409523-180409778	IMR90	lung:	n/a	chr1:180409651-180409662
39	CEBPB	chr1:180381765-180382042	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr1:180366365-180366698	K562	blood:	n/a	chr1:180366529-180366540 chr1:180366518-180366529
41	CEBPB	chr1:180321219-180321482	Hela-S3	cervix:	n/a	chr1:180321359-180321370
42	CEBPB	chr1:180321192-180321489	HepG2	liver:	n/a	chr1:180321359-180321370
43	CEBPB	chr1:180381737-180382098	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr1:180376043-180376273	A549	lung:	n/a	chr1:180376122-180376134 chr1:180376161-180376172
45	CEBPB	chr1:180381698-180382027	A549	lung:	n/a	n/a
46	CEBPB	chr1:180398139-180398627	A549	lung:	n/a	chr1:180398307-180398318
47	CEBPB	chr1:180381754-180382062	IMR90	lung:	n/a	n/a
48	CEBPB	chr1:180381711-180382074	ECC-1	luminal epithelium:	n/a	n/a
49	CEBPB	chr1:180321192-180321498	A549	lung:	n/a	chr1:180321359-180321370
50	CEBPB	chr1:180279201-180279746	HCT-116	colon:	n/a	chr1:180279445-180279456

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:180323123-180323173	BE2_C	brain:	n/a
2	chr1:180374455-180374505	NH-A	brain:	n/a
3	chr1:180323123-180323173	Jurkat	blood:	n/a
4	chr1:180323123-180323173	PrEC	prostate:	n/a
5	chr1:180374455-180374505	HEK293	kidney:	embryo
6	chr1:180374455-180374505	IMR90	lung:	fetal
7	chr1:180323123-180323173	HUVEC	blood vessel:	n/a
8	chr1:180323123-180323173	SK-N-MC	brain:	n/a
9	chr1:180323123-180323173	HRPEpiC	eye:	n/a
10	chr1:180323123-180323173	AG09319	gingival:	n/a
11	chr1:180323123-180323173	Hepatocyte	liver:	n/a
12	chr1:180374455-180374505	HRE	kidney:	n/a
13	chr1:180323123-180323173	PANC-1	pancreas:	n/a
14	chr1:180374455-180374505	AG10803	skin:	n/a
15	chr1:180374455-180374505	GM12891	blood:	n/a
16	chr1:180323123-180323173	GM12878	blood:	n/a
17	chr1:180374455-180374505	MCF10A-Er-Src	breast:	n/a
18	chr1:180374455-180374505	NB4	blood:	n/a
19	chr1:180374455-180374505	HCM	heart:	n/a
20	chr1:180323123-180323173	HMEC	breast:	n/a
21	chr1:180323123-180323173	NHBE	bronchial:	n/a
22	chr1:180374455-180374505	GM19239	blood:	n/a
23	chr1:180374455-180374505	AG04449	skin:	fetal
24	chr1:180374455-180374505	HIPEpiC	eye:	n/a
25	chr1:180374455-180374505	AG09319	gingival:	n/a
26	chr1:180323123-180323173	HRE	kidney:	n/a
27	chr1:180323123-180323173	HL-60	blood:	n/a
28	chr1:180374455-180374505	AG04450	lung:	fetal
29	chr1:180323123-180323173	AG04450	lung:	fetal
30	chr1:180323123-180323173	HEK293	kidney:	embryo
31	chr1:180323123-180323173	CMK	blood:	n/a
32	chr1:180323123-180323173	Caco-2	colon:	n/a
33	chr1:180323123-180323173	U87	brain:	n/a
34	chr1:180323123-180323173	SK-N-SH	brain:	n/a
35	chr1:180374455-180374505	ProgFib	skin:	n/a
36	chr1:180374455-180374505	U87	brain:	n/a
37	chr1:180374455-180374505	HNPCEpiC	eye:	n/a
38	chr1:180374455-180374505	ECC-1	luminal epithelium:	n/a
39	chr1:180323123-180323173	GM19239	blood:	n/a
40	chr1:180323123-180323173	Hela-S3	cervix:	n/a
41	chr1:180323123-180323173	MCF-7	breast:	n/a
42	chr1:180323123-180323173	IMR90	lung:	fetal
43	chr1:180323123-180323173	MCF10A-Er-Src	breast:	n/a
44	chr1:180374455-180374505	AG09309	skin:	n/a
45	chr1:180374455-180374505	HRPEpiC	eye:	n/a
46	chr1:180374455-180374505	HAEpiC	amniotic membrane:	n/a
47	chr1:180374455-180374505	PANC-1	pancreas:	n/a
48	chr1:180374455-180374505	ovcar-3	ovarian:	n/a
49	chr1:180323123-180323173	GM06990	blood:	n/a
50	chr1:180374455-180374505	RPTEC	kidney:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:180396509..180398136-chr1:180400657..180403081,2	MCF-7	breast:
2	chr1:180391869..180395184-chr1:180397658..180400952,4	K562	blood:
3	chr1:180293913..180296801-chr1:180297022..180299145,2	MCF-7	breast:
4	chr1:180322085..180323863-chr1:181057585..181060393,2	MCF-7	breast:
5	chr1:180307835..180310345-chr1:180318963..180321787,2	K562	blood:
6	chr1:180405935..180408153-chr1:180413582..180416422,2	K562	blood:
7	chr1:180431427..180433581-chr1:180456543..180458150,2	MCF-7	breast:
8	chr1:180424593..180426935-chr1:180469850..180472098,4	MCF-7	breast:
9	chr1:180239508..180240426-chr1:180333226..180333972,2	MCF-7	breast:
10	chr1:180374275..180377221-chr1:180383343..180386300,2	K562	blood:
11	chr1:180191227..180195621-chr1:180443394..180446710,3	MCF-7	breast:
12	chr1:180338174..180341966-chr1:180380791..180382462,3	MCF-7	breast:
13	chr1:180382343..180384575-chr1:180387330..180389916,2	MCF-7	breast:
14	chr1:180324441..180326853-chr1:180327737..180330697,2	K562	blood:
15	chr1:180414436..180416296-chr1:180466965..180469028,2	K562	blood:
16	chr1:180383396..180385405-chr1:180470493..180472141,2	MCF-7	breast:
17	chr1:180307835..180310345-chr1:180318963..180321787,2	K562	blood:
18	chr1:180312511..180315750-chr1:180317439..180321619,4	K562	blood:
19	chr1:180314939..180317769-chr1:180329019..180331007,2	K562	blood:
20	chr1:180333279..180333792-chr1:180384823..180385385,2	MCF-7	breast:
21	chr1:180374275..180378586-chr1:180383335..180386300,4	K562	blood:
22	chr1:180384412..180386137-chr1:180393141..180396163,3	K562	blood:
23	chr1:180156865..180157706-chr1:180384959..180385623,2	K562	blood:
24	chr1:180329129..180331822-chr1:180337969..180339999,2	K562	blood:
25	chr1:180334041..180334659-chr1:180447077..180447930,3	MCF-7	breast:
26	chr1:180221511..180222402-chr1:180384611..180385850,8	K562	blood:
27	chr1:180396509..180398136-chr1:180400657..180403081,2	MCF-7	breast:
28	chr1:180380729..180383084-chr1:180391274..180393848,2	K562	blood:
29	chr1:180425851..180427880-chr1:180446701..180449682,2	K562	blood:
30	chr1:180282396..180285263-chr1:180286610..180289020,2	K562	blood:
31	chr1:180275452..180277141-chr1:180277823..180280366,2	MCF-7	breast:
32	chr1:180345449..180347535-chr1:180362052..180364147,2	MCF-7	breast:
33	chr1:180416341..180419138-chr1:180424859..180427107,2	K562	blood:
34	chr1:180442608..180444717-chr1:180447768..180449648,2	K562	blood:
35	chr1:180385266..180387346-chr1:180425240..180427346,2	K562	blood:
36	chr1:180438874..180441365-chr1:180469997..180471942,2	K562	blood:
37	chr1:180222556..180224240-chr1:180362387..180364458,2	MCF-7	breast:
38	chr1:180436097..180438138-chr1:180463436..180465380,2	K562	blood:
39	chr1:180269279..180270936-chr1:180279366..180281491,2	K562	blood:
40	chr1:180324441..180326853-chr1:180327737..180330697,2	K562	blood:
41	chr1:180349414..180351217-chr1:180352650..180354645,2	K562	blood:
42	chr1:180383756..180385501-chr1:180395011..180397819,2	K562	blood:
43	chr1:180354979..180356991-chr1:180360915..180363474,2	MCF-7	breast:
44	chr1:180334858..180336416-chr1:180338509..180341789,3	K562	blood:
45	chr1:180385266..180387346-chr1:180425240..180427346,2	K562	blood:
46	chr1:180406892..180409945-chr1:180415204..180417622,3	MCF-7	breast:
47	chr1:180354979..180356991-chr1:180360915..180363474,2	MCF-7	breast:
48	chr1:180334858..180337165-chr1:180338509..180341951,3	K562	blood:
49	chr1:180349414..180351217-chr1:180352650..180354645,2	K562	blood:
50	chr1:180374275..180378586-chr1:180383335..180386300,4	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TOR1AIP2-7	chr1:180363055-180363304	NONHSAT008259
2	lnc-LHX4-3	chr1:180353449-180353586	l_154_chr1:180351088-180353586_testes
3	lnc-LHX4-2	chr1:180324029-180324234	NONHSAT008258
4	lnc-LHX4-3	chr1:180353269-180353407	l_154_chr1:180351088-180353586_testes
5	lnc-LHX4-3	chr1:180351089-180351110	l_154_chr1:180351088-180353586_testes
6	lnc-TOR1AIP2-7	chr1:180364163-180364423	NONHSAT008259
7	lnc-TOR1AIP2-7	chr1:180363569-180363685	NONHSAT008259
8	lnc-LHX4-2	chr1:180325123-180325870	NONHSAT008258
9	lnc-LHX4-2	chr1:180322309-180322499	NONHSAT008258

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3121-5p	chr1:180407493-180407514	MIMAT0019199
hsa-miR-3121-3p	chr1:180407458-180407479	MIMAT0014983

No data

Variant related genes	Relation type
MIR3121	TF binding region
ACBD6	TF binding region
VDAC1P4	TF binding region
MIR3121	CpG island
ACBD6	CpG island
VDAC1P4	CpG island
ENSG00000272198	chromatin interactions
ENSG00000162783	chromatin interactions
ENSG00000265435	chromatin interactions
ENSG00000135847	chromatin interactions
ENSG00000121454	chromatin interactions

Extended variants
information (count: 6059 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:6059 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10494526	chr1:180279710-180279711	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564874885	chr1:180279727-180279728	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs377223175	chr1:180279785-180279786	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs547261978	chr1:180279970-180279971	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182250567	chr1:180279976-180279977	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572796985	chr1:180279982-180279983	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368392323	chr1:180280042-180280043	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12069143	chr1:180280049-180280050	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549083014	chr1:180280069-180280070	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569045214	chr1:180280072-180280073	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140577214	chr1:180280084-180280085	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114274948	chr1:180280109-180280110	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557779981	chr1:180280113-180280114	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577965362	chr1:180280115-180280116	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34334728	chr1:180280118-180280119	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533855869	chr1:180280129-180280130	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188154921	chr1:180280152-180280153	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74579766	chr1:180280191-180280192	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192763513	chr1:180280195-180280196	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562654771	chr1:180280209-180280210	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576230958	chr1:180280212-180280213	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545120677	chr1:180280234-180280235	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs368672715	chr1:180280299-180280300	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs564768439	chr1:180280320-180280321	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs372698027	chr1:180280323-180280324	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527242216	chr1:180280329-180280330	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs61811565	chr1:180280330-180280331	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs544340584	chr1:180280333-180280334	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs540571758	chr1:180280334-180280335	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs55697042	chr1:180280352-180280353	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529528977	chr1:180280366-180280367	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs185223107	chr1:180280370-180280371	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs577549815	chr1:180280385-180280386	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs531734782	chr1:180280413-180280414	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs551422331	chr1:180280440-180280441	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs571556429	chr1:180280464-180280465	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs372148928	chr1:180280497-180280498	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs79615145	chr1:180280522-180280523	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs190152470	chr1:180280556-180280557	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs553795693	chr1:180280585-180280586	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs567582817	chr1:180280614-180280615	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs536526782	chr1:180280646-180280647	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs34538049	chr1:180280658-180280659	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs556442843	chr1:180280665-180280666	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs576294962	chr1:180280712-180280713	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs545132801	chr1:180280731-180280732	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs558574965	chr1:180280770-180280771	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs571962838	chr1:180280846-180280847	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs541057782	chr1:180280850-180280851	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs560699485	chr1:180280875-180280876	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD

Chromatin state (count:1907 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180245200-180282400	Weak transcription	Fetal Intestine Large	intestine
2	chr1:180245400-180280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:180247800-180284200	Weak transcription	Fetal Thymus	thymus
4	chr1:180250400-180279800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:180254400-180280400	Weak transcription	Fetal Stomach	stomach
6	chr1:180254800-180282400	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:180257600-180289600	Weak transcription	Hela-S3	cervix
8	chr1:180257800-180279800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:180257800-180287200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:180257800-180296200	Weak transcription	Left Ventricle	heart
11	chr1:180258400-180285200	Weak transcription	Ovary	ovary
12	chr1:180261200-180284200	Weak transcription	K562	blood
13	chr1:180262800-180280000	Weak transcription	Primary B cells from cord blood	blood
14	chr1:180267000-180284400	Weak transcription	GM12878-XiMat	blood
15	chr1:180268200-180282800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:180269200-180282000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:180271600-180284600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:180274600-180281600	Weak transcription	Fetal Brain Male	brain
19	chr1:180275000-180280600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:180276200-180280400	Weak transcription	Liver	Liver
21	chr1:180276200-180283800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:180276400-180279800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:180276400-180280200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:180276400-180280800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:180276400-180281600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:180276400-180284600	Weak transcription	Fetal Lung	lung
27	chr1:180276600-180280000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:180276600-180280000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:180276600-180280000	Weak transcription	Dnd41	blood
30	chr1:180276600-180280200	Weak transcription	Primary T cells from cord blood	blood
31	chr1:180276600-180280600	Weak transcription	Placenta	Placenta
32	chr1:180276800-180280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:180277200-180280600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:180277600-180280800	Enhancers	HepG2	liver
35	chr1:180277800-180280200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:180277800-180283800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:180277800-180284200	Weak transcription	Brain Substantia Nigra	brain
38	chr1:180277800-180284800	Weak transcription	Psoas Muscle	Psoas
39	chr1:180278000-180282600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:180278000-180284200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:180278000-180285200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:180278000-180298200	Weak transcription	Esophagus	oesophagus
43	chr1:180278200-180280200	Weak transcription	Aorta	Aorta
44	chr1:180278200-180281000	Flanking Active TSS	A549	lung
45	chr1:180278400-180280200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:180278400-180280200	Weak transcription	Thymus	Thymus
47	chr1:180278400-180282200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:180278600-180279800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:180278600-180279800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr1:180278600-180279800	Enhancers	HMEC	breast

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