Variant report

Variant	esv3485939
Chromosome Location	chr16:75497453-75550284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2037)
CpG islands
(count:2017)
Chromatin interactive
region (count:133)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2037 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:75540461-75540804	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:75505697-75506039	K562	blood:	n/a	n/a
3	ARID3A	chr16:75540441-75540853	K562	blood:	n/a	n/a
4	ARID3A	chr16:75543367-75543781	K562	blood:	n/a	n/a
5	ARID3A	chr16:75505682-75506080	HepG2	liver:	n/a	n/a
6	ARID3A	chr16:75498657-75498957	K562	blood:	n/a	n/a
7	ARID3A	chr16:75515556-75515577	K562	blood:	n/a	n/a
8	ARID3A	chr16:75500761-75500945	HepG2	liver:	n/a	n/a
9	ARID3A	chr16:75498540-75499012	HepG2	liver:	n/a	n/a
10	ATF1	chr16:75540441-75540853	K562	blood:	n/a	n/a
11	ATF1	chr16:75543362-75543935	K562	blood:	n/a	n/a
12	ATF1	chr16:75498456-75498943	K562	blood:	n/a	n/a
13	ATF1	chr16:75539875-75540195	K562	blood:	n/a	n/a
14	ATF2	chr16:75498482-75499040	GM12878	blood:	n/a	n/a
15	ATF2	chr16:75498506-75498886	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr16:75498185-75499035	GM12878	blood:	n/a	n/a
17	ATF2	chr16:75523217-75523680	GM12878	blood:	n/a	n/a
18	ATF2	chr16:75505640-75506042	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr16:75498550-75499026	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF3	chr16:75498366-75498967	K562	blood:	n/a	n/a
21	ATF3	chr16:75505746-75505953	K562	blood:	n/a	n/a
22	ATF3	chr16:75498487-75498906	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF3	chr16:75543263-75543677	K562	blood:	n/a	n/a
24	ATF3	chr16:75498353-75498932	A549	lung:	n/a	n/a
25	ATF3	chr16:75498596-75498985	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF3	chr16:75498584-75498885	HepG2	liver:	n/a	n/a
27	ATF3	chr16:75498399-75498904	K562	blood:	n/a	n/a
28	BACH1	chr16:75529192-75529506	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr16:75528737-75528745	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr16:75498677-75498912	K562	blood:	n/a	n/a
31	BACH1	chr16:75505594-75506008	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr16:75498080-75498967	H1-hESC	embryonic stem cell:	n/a	n/a
33	BATF	chr16:75520552-75520972	GM12878	blood:	n/a	n/a
34	BATF	chr16:75505750-75505994	GM12878	blood:	n/a	chr16:75505829-75505840
35	BATF	chr16:75549905-75550229	GM12878	blood:	n/a	n/a
36	BATF	chr16:75497068-75497480	GM12878	blood:	n/a	n/a
37	BATF	chr16:75520619-75520952	GM12878	blood:	n/a	n/a
38	BATF	chr16:75498712-75499083	GM12878	blood:	n/a	n/a
39	BATF	chr16:75498568-75499097	GM12878	blood:	n/a	n/a
40	BATF	chr16:75549927-75550130	GM12878	blood:	n/a	n/a
41	BCL3	chr16:75523221-75523575	GM12878	blood:	n/a	n/a
42	BCL3	chr16:75498359-75498948	A549	lung:	n/a	n/a
43	BCLAF1	chr16:75498261-75499021	GM12878	blood:	n/a	chr16:75498342-75498355 chr16:75498311-75498324 chr16:75498315-75498328
44	BCLAF1	chr16:75505648-75506077	GM12878	blood:	n/a	n/a
45	BHLHE40	chr16:75505736-75506089	HepG2	liver:	n/a	n/a
46	BHLHE40	chr16:75543277-75543975	K562	blood:	n/a	n/a
47	BHLHE40	chr16:75535379-75535401	K562	blood:	n/a	n/a
48	BHLHE40	chr16:75535302-75535565	HepG2	liver:	n/a	n/a
49	BHLHE40	chr16:75498077-75499007	HepG2	liver:	n/a	chr16:75498119-75498135 chr16:75498314-75498330
50	BHLHE40	chr16:75498205-75498959	K562	blood:	n/a	chr16:75498314-75498330

(count:2017 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:75498489-75498539	AG10803	skin:	n/a
2	chr16:75528920-75528970	HepG2	liver:	n/a
3	chr16:75497829-75497879	MCF10A-Er-Src	breast:	n/a
4	chr16:75508622-75508672	AG09319	gingival:	n/a
5	chr16:75498489-75498539	AG10803	skin:	n/a
6	chr16:75528920-75528970	HepG2	liver:	n/a
7	chr16:75497829-75497879	MCF10A-Er-Src	breast:	n/a
8	chr16:75508622-75508672	AG09319	gingival:	n/a
9	chr16:75529504-75529554	Hepatocyte	liver:	n/a
10	chr16:75508622-75508672	HepG2	liver:	n/a
11	chr16:75528813-75528863	HL-60	blood:	n/a
12	chr16:75532464-75532514	HRCEpiC	kidney:	n/a
13	chr16:75497829-75497879	Jurkat	blood:	n/a
14	chr16:75508622-75508672	GM12891	blood:	n/a
15	chr16:75512273-75512323	AG10803	skin:	n/a
16	chr16:75513561-75513611	HEK293	kidney:	embryo
17	chr16:75528977-75529027	NH-A	brain:	n/a
18	chr16:75528459-75528509	HEK293	kidney:	embryo
19	chr16:75529346-75529396	K562	blood:	n/a
20	chr16:75498133-75498183	HAEpiC	amniotic membrane:	n/a
21	chr16:75512273-75512323	SAEC	small airway:	n/a
22	chr16:75520165-75520215	AG10803	skin:	n/a
23	chr16:75520165-75520215	HUVEC	blood vessel:	n/a
24	chr16:75497728-75497778	BE2_C	brain:	n/a
25	chr16:75529105-75529155	HNPCEpiC	eye:	n/a
26	chr16:75529356-75529406	RPTEC	kidney:	n/a
27	chr16:75529892-75529942	BJ	skin:	n/a
28	chr16:75499416-75499466	AG09309	skin:	n/a
29	chr16:75550118-75550168	ECC-1	luminal epithelium:	n/a
30	chr16:75529504-75529554	HMEC	breast:	n/a
31	chr16:75520165-75520215	ovcar-3	ovarian:	n/a
32	chr16:75532464-75532514	PrEC	prostate:	n/a
33	chr16:75499416-75499466	Hela-S3	cervix:	n/a
34	chr16:75529197-75529247	NHBE	bronchial:	n/a
35	chr16:75497728-75497778	HIPEpiC	eye:	n/a
36	chr16:75497728-75497778	NHDF-neo	bronchial:	n/a
37	chr16:75498408-75498458	GM12892	blood:	n/a
38	chr16:75529892-75529942	HRCEpiC	kidney:	n/a
39	chr16:75528813-75528863	NHBE	bronchial:	n/a
40	chr16:75529105-75529155	AG04450	lung:	fetal
41	chr16:75499416-75499466	PFSK-1	brain:	n/a
42	chr16:75529356-75529406	HRE	kidney:	n/a
43	chr16:75528459-75528509	PANC-1	pancreas:	n/a
44	chr16:75524926-75524976	RPTEC	kidney:	n/a
45	chr16:75524926-75524976	CMK	blood:	n/a
46	chr16:75524926-75524976	AG09319	gingival:	n/a
47	chr16:75529356-75529406	NB4	blood:	n/a
48	chr16:75520165-75520215	HNPCEpiC	eye:	n/a
49	chr16:75498559-75498609	HEK293	kidney:	embryo
50	chr16:75498559-75498609	Caco-2	colon:	n/a

(count:133 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr16:75496672..75499382-chr16:75549463..75551344,4	MCF-7	breast:
2	chr16:75497002..75498653-chr16:75549372..75551463,2	K562	blood:
3	chr16:75505256..75507400-chr16:75525903..75527940,2	MCF-7	breast:
4	chr16:75467294..75467997-chr16:75498539..75499091,2	MCF-7	breast:
5	chr16:75503918..75505841-chr16:75588439..75590620,2	MCF-7	breast:
6	chr16:75498448..75499224-chr16:75525475..75526337,2	MCF-7	breast:
7	chr16:75535727..75537338-chr16:75540511..75542867,2	MCF-7	breast:
8	chr16:75499072..75501045-chr16:75501380..75504166,2	MCF-7	breast:
9	chr16:75498113..75498860-chr7:100026909..100027763,2	Hela-S3	cervix:
10	chr16:75466440..75468341-chr16:75498328..75499164,5	MCF-7	breast:
11	chr16:75523790..75524565-chr16:75542425..75543396,2	K562	blood:
12	chr16:75285110..75287717-chr16:75517291..75520144,2	MCF-7	breast:
13	chr16:75510996..75513043-chr16:75514051..75516521,2	K562	blood:
14	chr16:75536938..75540823-chr16:75549516..75552807,4	MCF-7	breast:
15	chr16:75496858..75499850-chr16:75589381..75591063,2	K562	blood:
16	chr16:75516147..75519691-chr16:75524437..75526173,3	MCF-7	breast:
17	chr16:75496764..75498931-chr16:75589140..75591199,3	MCF-7	breast:
18	chr16:75497168..75499078-chr16:75505680..75507932,2	MCF-7	breast:
19	chr16:75505256..75507400-chr16:75525903..75527940,2	MCF-7	breast:
20	chr16:75549723..75552104-chr16:75587869..75590374,4	MCF-7	breast:
21	chr16:75550007..75552554-chr16:75597669..75600323,2	MCF-7	breast:
22	chr16:75538570..75543222-chr16:75547718..75552328,5	MCF-7	breast:
23	chr16:75549952..75552218-chr16:75681885..75683701,2	K562	blood:
24	chr16:75497166..75499836-chr16:75598619..75601609,5	MCF-7	breast:
25	chr16:75466555..75469531-chr16:75511549..75514102,2	MCF-7	breast:
26	chr16:75181464..75183944-chr16:75497097..75499788,2	MCF-7	breast:
27	chr16:75549686..75552508-chr16:75588605..75590350,2	MCF-7	breast:
28	chr16:75496436..75498553-chr16:75596400..75601675,4	MCF-7	breast:
29	chr16:75503553..75505745-chr16:75588650..75591373,2	MCF-7	breast:
30	chr1:6452892..6453603-chr16:75498155..75498727,2	Hela-S3	cervix:
31	chr16:75505348..75506153-chr16:75551055..75551869,3	MCF-7	breast:
32	chr16:75466031..75468931-chr16:75549812..75551653,2	K562	blood:
33	chr16:75520122..75522617-chr16:75545167..75547600,2	MCF-7	breast:
34	chr16:75465026..75467989-chr16:75524514..75527095,2	MCF-7	breast:
35	chr12:49412091..49412681-chr16:75498282..75498826,2	Hela-S3	cervix:
36	chr16:75505393..75505919-chr16:75525499..75526021,2	MCF-7	breast:
37	chr16:75496672..75499382-chr16:75549463..75551344,4	MCF-7	breast:
38	chr16:75498379..75499125-chr16:75548041..75548619,2	K562	blood:
39	chr16:75549961..75554189-chr16:75589462..75592660,4	K562	blood:
40	chr16:75506243..75508903-chr16:75511656..75514124,2	K562	blood:
41	chr16:75498163..75498768-chr7:99697963..99698902,2	Hela-S3	cervix:
42	chr16:75523373..75525274-chr16:75540310..75541821,2	MCF-7	breast:
43	chr16:75503001..75505927-chr16:75587791..75590267,2	K562	blood:
44	chr16:75505900..75508078-chr16:75510609..75513420,3	MCF-7	breast:
45	chr16:75539387..75542121-chr16:75553084..75554957,2	MCF-7	breast:
46	chr16:75523790..75524565-chr16:75542425..75543396,2	K562	blood:
47	chr16:75296409..75300528-chr16:75549238..75552790,3	MCF-7	breast:
48	chr16:75507460..75509082-chr16:75520993..75523733,2	MCF-7	breast:
49	chr16:75497139..75499689-chr16:75518408..75520806,2	K562	blood:
50	chr16:75520122..75522617-chr16:75545167..75547600,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABARAPL2-1	chr16:75509794-75510218	ENSG00000203472.3
2	lnc-CHST6-2	chr16:75507025-75507817	NONHSAT143740
3	lnc-GABARAPL2-1	chr16:75529158-75529305	ENSG00000203472.3
4	lnc-CHST6-2	chr16:75528838-75528926	NONHSAT143740
5	lnc-RP11-77K12.1.1-1	chr16:75499514-75499773	XLOC_012010
6	lnc-RP11-77K12.1.1-1	chr16:75499272-75499391	XLOC_012010

No data

Variant related genes	Relation type
TMEM170A	TF binding region
ENSG00000203472	TF binding region
ENSG00000261717	TF binding region
ENSG00000261476	TF binding region
CHST6	TF binding region
ENSG00000262583	TF binding region
TMEM170A	CpG island
ENSG00000203472	CpG island
ENSG00000261717	CpG island
ENSG00000261476	CpG island
CHST6	CpG island
ENSG00000262583	CpG island
ENSG00000255414	chromatin interactions
ENSG00000184517	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000059758	chromatin interactions
ENSG00000183196	chromatin interactions
ENSG00000262583	chromatin interactions
ENSG00000261717	chromatin interactions
ENSG00000166192	chromatin interactions
ENSG00000135702	chromatin interactions
ENSG00000066933	chromatin interactions
ENSG00000166848	chromatin interactions
ENSG00000196792	chromatin interactions
ENSG00000166508	chromatin interactions
ENSG00000203472	chromatin interactions
ENSG00000153774	chromatin interactions
ENSG00000100478	chromatin interactions
ENSG00000097021	chromatin interactions
ENSG00000145495	chromatin interactions
ENSG00000205084	chromatin interactions
ENSG00000034713	chromatin interactions
ENSG00000065457	chromatin interactions
ENSG00000261476	chromatin interactions
ENSG00000050820	chromatin interactions
ENSG00000166822	chromatin interactions
ENSG00000259802	chromatin interactions
ENSG00000065427	chromatin interactions
ENSG00000181929	chromatin interactions

Extended variants
information (count: 2525 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2525 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562654885	chr16:75497459-75497460	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs531585301	chr16:75497463-75497464	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs28729512	chr16:75497498-75497499	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs28502535	chr16:75497504-75497505	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs375742730	chr16:75497511-75497512	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs28413092	chr16:75497513-75497514	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570419061	chr16:75497535-75497536	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs539504155	chr16:75497559-75497560	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs34100762	chr16:75497571-75497572	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs192747387	chr16:75497591-75497592	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs569912141	chr16:75497599-75497600	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs372687357	chr16:75497613-75497614	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs535691971	chr16:75497622-75497623	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs9930742	chr16:75497626-75497627	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572700740	chr16:75497658-75497659	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs534678781	chr16:75497698-75497699	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs370034928	chr16:75497720-75497721	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs141520972	chr16:75497723-75497724	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs575236457	chr16:75497735-75497736	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs543910431	chr16:75497754-75497755	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs563815823	chr16:75497756-75497757	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs116475745	chr16:75497840-75497841	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs557432839	chr16:75497845-75497846	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs577376144	chr16:75497868-75497869	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs542050549	chr16:75497883-75497884	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs561938336	chr16:75497915-75497916	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs527601083	chr16:75497925-75497926	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs547411164	chr16:75497934-75497935	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs564087855	chr16:75497985-75497986	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs9931077	chr16:75498025-75498026	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs111809253	chr16:75498030-75498031	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs569421953	chr16:75498090-75498091	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs535605571	chr16:75498096-75498097	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs549185452	chr16:75498104-75498105	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs566206766	chr16:75498124-75498125	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs535308234	chr16:75498130-75498131	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs558193644	chr16:75498133-75498134	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs115618771	chr16:75498148-75498149	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs537454141	chr16:75498154-75498155	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs9940471	chr16:75498169-75498170	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs574205073	chr16:75498218-75498219	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs569745561	chr16:75498233-75498234	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs150429885	chr16:75498252-75498253	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs201442047	chr16:75498253-75498254	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs561906626	chr16:75498261-75498262	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs572174970	chr16:75498265-75498266	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs541316359	chr16:75498281-75498282	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs564263579	chr16:75498288-75498289	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs529215872	chr16:75498303-75498304	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs532726533	chr16:75498313-75498314	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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 lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75481800-75497600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:75485800-75497600	Weak transcription	Aorta	Aorta
3	chr16:75494800-75497600	Weak transcription	Ovary	ovary
4	chr16:75495200-75497600	Weak transcription	Lung	lung
5	chr16:75496000-75497600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr16:75496000-75499000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr16:75496400-75497600	Enhancers	Primary B cells from cord blood	blood
8	chr16:75496600-75497800	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr16:75496600-75497800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:75496600-75497800	Flanking Active TSS	Dnd41	blood
11	chr16:75496600-75498000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr16:75496600-75498800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:75496600-75498800	Active TSS	GM12878-XiMat	blood
14	chr16:75496600-75499000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr16:75496800-75497600	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr16:75496800-75498000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr16:75496800-75498000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr16:75496800-75498800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr16:75497000-75497600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr16:75497000-75497600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr16:75497000-75497600	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr16:75497000-75497600	Weak transcription	Stomach Mucosa	stomach
23	chr16:75497000-75497600	Flanking Active TSS	HUVEC	blood vessel
24	chr16:75497000-75497600	Flanking Active TSS	Osteobl	bone
25	chr16:75497000-75497800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr16:75497000-75497800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:75497000-75497800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:75497000-75497800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:75497000-75497800	Flanking Active TSS	Liver	Liver
30	chr16:75497000-75497800	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr16:75497000-75498000	Active TSS	Brain Germinal Matrix	brain
32	chr16:75497000-75498200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr16:75497000-75498200	Active TSS	Right Atrium	heart
34	chr16:75497000-75498400	Active TSS	Fetal Intestine Large	intestine
35	chr16:75497000-75498800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr16:75497000-75498800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr16:75497000-75498800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr16:75497000-75498800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:75497000-75498800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr16:75497000-75498800	Active TSS	Colonic Mucosa	Colon
41	chr16:75497000-75498800	Active TSS	Fetal Intestine Small	intestine
42	chr16:75497000-75498800	Active TSS	NHLF	lung
43	chr16:75497000-75499000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr16:75497000-75499000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:75497000-75499000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:75497000-75499000	Active TSS	Stomach Smooth Muscle	stomach
47	chr16:75497000-75499200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:75497200-75497600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr16:75497200-75497600	Enhancers	Fetal Heart	heart
50	chr16:75497200-75497600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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