Variant report

Variant	esv3338628
Chromosome Location	chr16:70283151-70287449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1154)
CpG islands
(count:854)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1154 , 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	chr16:70285693-70286285	K562	blood:	n/a	n/a
2	ARID3A	chr16:70285768-70286158	HepG2	liver:	n/a	n/a
3	ATF2	chr16:70285578-70286117	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr16:70285560-70286287	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr16:70285539-70286157	GM12878	blood:	n/a	n/a
6	ATF2	chr16:70285719-70286058	GM12878	blood:	n/a	n/a
7	ATF3	chr16:70285052-70285235	K562	blood:	n/a	n/a
8	ATF3	chr16:70285713-70286019	K562	blood:	n/a	n/a
9	ATF3	chr16:70285482-70286054	A549	lung:	n/a	n/a
10	ATF3	chr16:70285595-70286202	A549	lung:	n/a	n/a
11	BACH1	chr16:70285758-70286009	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr16:70286012-70286116	K562	blood:	n/a	n/a
13	BACH1	chr16:70285189-70285377	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr16:70285122-70285178	K562	blood:	n/a	n/a
15	BCL3	chr16:70285533-70286181	A549	lung:	n/a	chr16:70285921-70285929
16	BCL3	chr16:70285515-70286212	A549	lung:	n/a	chr16:70285921-70285929
17	BCL3	chr16:70285545-70286396	K562	blood:	n/a	chr16:70285921-70285929
18	BCL3	chr16:70285551-70286540	K562	blood:	n/a	chr16:70285921-70285929
19	BCL3	chr16:70285249-70286114	GM12878	blood:	n/a	chr16:70285921-70285929
20	BCLAF1	chr16:70285551-70286111	GM12878	blood:	n/a	chr16:70285921-70285929
21	BCLAF1	chr16:70285447-70286184	GM12878	blood:	n/a	chr16:70285921-70285929
22	BCLAF1	chr16:70285593-70286227	K562	blood:	n/a	chr16:70285921-70285929
23	BHLHE40	chr16:70285568-70286166	HepG2	liver:	n/a	n/a
24	BHLHE40	chr16:70285592-70286156	GM12878	blood:	n/a	n/a
25	BHLHE40	chr16:70284901-70285174	K562	blood:	n/a	n/a
26	BHLHE40	chr16:70285648-70286831	K562	blood:	n/a	n/a
27	BRCA1	chr16:70286717-70286750	HepG2	liver:	n/a	n/a
28	BRCA1	chr16:70285742-70286404	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr16:70285754-70286060	GM12878	blood:	n/a	n/a
30	BRCA1	chr16:70285785-70286197	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr16:70285768-70286097	HepG2	liver:	n/a	n/a
32	CBX3	chr16:70285595-70286190	K562	blood:	n/a	n/a
33	CBX3	chr16:70285701-70286041	K562	blood:	n/a	n/a
34	CCNT2	chr16:70284868-70286831	K562	blood:	n/a	n/a
35	CCNT2	chr16:70287267-70288128	K562	blood:	n/a	chr16:70287375-70287384
36	CEBPB	chr16:70285767-70286062	K562	blood:	n/a	n/a
37	CEBPB	chr16:70285616-70286218	GM12878	blood:	n/a	n/a
38	CEBPB	chr16:70285871-70285986	HepG2	liver:	n/a	n/a
39	CEBPB	chr16:70285637-70286311	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr16:70285934-70286005	K562	blood:	n/a	n/a
41	CEBPB	chr16:70284911-70285102	Hela-S3	cervix:	n/a	n/a
42	CEBPD	chr16:70285598-70286074	HepG2	liver:	n/a	n/a
43	CEBPD	chr16:70285569-70286448	K562	blood:	n/a	n/a
44	CEBPD	chr16:70285729-70286026	HepG2	liver:	n/a	n/a
45	CHD1	chr16:70284609-70286363	IMR90	lung:	n/a	n/a
46	CHD1	chr16:70285084-70286218	GM12878	blood:	n/a	n/a
47	CHD1	chr16:70285577-70286195	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr16:70284792-70285328	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr16:70285051-70285113	GM12878	blood:	n/a	n/a
50	CHD2	chr16:70285285-70286168	Hela-S3	cervix:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70285910-70285960	CMK	blood:	n/a
2	chr16:70285816-70285866	ECC-1	luminal epithelium:	n/a
3	chr16:70285408-70285458	HCM	heart:	n/a
4	chr16:70285955-70286005	MCF10A-Er-Src	breast:	n/a
5	chr16:70286329-70286379	HL-60	blood:	n/a
6	chr16:70285910-70285960	HCPEpiC	choroid plexus:	n/a
7	chr16:70286390-70286440	AoSMC	blood vessel:	n/a
8	chr16:70286346-70286396	CMK	blood:	n/a
9	chr16:70285978-70286028	HCT-116	colon:	n/a
10	chr16:70286329-70286379	BE2_C	brain:	n/a
11	chr16:70285910-70285960	U87	brain:	n/a
12	chr16:70285806-70285856	NH-A	brain:	n/a
13	chr16:70283421-70283471	ProgFib	skin:	n/a
14	chr16:70284893-70284943	BJ	skin:	n/a
15	chr16:70284893-70284943	K562	blood:	n/a
16	chr16:70286779-70286829	HRPEpiC	eye:	n/a
17	chr16:70285978-70286028	SK-N-SH	brain:	n/a
18	chr16:70286346-70286396	HEEpiC	esophagus:	n/a
19	chr16:70286390-70286440	HRPEpiC	eye:	n/a
20	chr16:70285806-70285856	ProgFib	skin:	n/a
21	chr16:70286329-70286379	CMK	blood:	n/a
22	chr16:70284928-70284978	Jurkat	blood:	n/a
23	chr16:70284893-70284943	T-47D	breast:	n/a
24	chr16:70286779-70286829	AG09319	gingival:	n/a
25	chr16:70285408-70285458	ProgFib	skin:	n/a
26	chr16:70285910-70285960	MCF10A-Er-Src	breast:	n/a
27	chr16:70285806-70285856	CMK	blood:	n/a
28	chr16:70285910-70285960	NT2-D1	testis:	n/a
29	chr16:70286430-70286480	ovcar-3	ovarian:	n/a
30	chr16:70286430-70286480	BE2_C	brain:	n/a
31	chr16:70283421-70283471	PANC-1	pancreas:	n/a
32	chr16:70286346-70286396	AG10803	skin:	n/a
33	chr16:70286346-70286396	Hepatocyte	liver:	n/a
34	chr16:70286329-70286379	Caco-2	colon:	n/a
35	chr16:70283421-70283471	AoSMC	blood vessel:	n/a
36	chr16:70286779-70286829	GM12892	blood:	n/a
37	chr16:70284928-70284978	CMK	blood:	n/a
38	chr16:70285408-70285458	HPAEpiC	pulmonary alveolar:	n/a
39	chr16:70285408-70285458	K562	blood:	n/a
40	chr16:70284893-70284943	MCF10A-Er-Src	breast:	n/a
41	chr16:70285910-70285960	MCF-7	breast:	n/a
42	chr16:70284893-70284943	A549	lung:	n/a
43	chr16:70284928-70284978	PrEC	prostate:	n/a
44	chr16:70286779-70286829	AG09309	skin:	n/a
45	chr16:70286430-70286480	NH-A	brain:	n/a
46	chr16:70286329-70286379	HAEpiC	amniotic membrane:	n/a
47	chr16:70284893-70284943	AG04450	lung:	fetal
48	chr16:70285955-70286005	PANC-1	pancreas:	n/a
49	chr16:70285816-70285866	U87	brain:	n/a
50	chr16:70284928-70284978	HMEC	breast:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:842040..842913-chr16:70285376..70285907,2	HCT-116	colon:
2	chr16:70191657..70193675-chr16:70283732..70285560,2	K562	blood:
3	chr16:70284271..70287113-chr16:70301564..70303205,2	MCF-7	breast:
4	chr16:70285325..70286015-chr8:117886552..117887078,2	HCT-116	colon:
5	chr16:70286317..70289211-chr16:70320911..70324702,4	K562	blood:
6	chr16:70287173..70288856-chr16:70293033..70295926,2	MCF-7	breast:
7	chr16:70283625..70285831-chr16:70321379..70323186,2	K562	blood:
8	chr16:70284505..70286615-chr16:70556732..70559559,2	MCF-7	breast:
9	chr16:70285367..70286970-chr17:73718097..73720794,2	MCF-7	breast:
10	chr16:70287320..70289608-chr16:70290173..70293534,4	K562	blood:
11	chr1:149982029..149982749-chr16:70285430..70285983,2	Hela-S3	cervix:
12	chr16:70287090..70289744-chr16:70321659..70325168,3	MCF-7	breast:
13	chr16:70278247..70283453-chr16:70284015..70287841,6	MCF-7	breast:
14	chr16:70279273..70282169-chr16:70284255..70286204,3	K562	blood:
15	chr16:70283970..70285913-chr16:70380669..70382950,2	K562	blood:
16	chr16:70284251..70286200-chr16:70298122..70301114,5	MCF-7	breast:
17	chr16:70285081..70287489-chr16:70291525..70295571,5	K562	blood:
18	chr16:70284942..70287057-chr16:70291525..70294943,4	K562	blood:
19	chr16:70286246..70291555-chr16:70316780..70324702,12	K562	blood:
20	chr16:70286360..70288555-chr16:70308791..70311038,2	K562	blood:
21	chr16:70278247..70283453-chr16:70284015..70287841,6	MCF-7	breast:
22	chr16:70285876..70288887-chr16:70302566..70307390,4	K562	blood:
23	chr16:70284511..70286776-chr16:70330314..70334173,3	MCF-7	breast:
24	chr16:70284207..70286196-chr16:70321648..70323975,3	MCF-7	breast:
25	chr16:70283799..70285737-chr6:44213868..44216847,2	K562	blood:
26	chr16:70279244..70282169-chr16:70284255..70286230,4	K562	blood:
27	chr16:70285343..70285906-chr19:16738980..16739732,2	Hela-S3	cervix:
28	chr16:70285239..70287287-chr16:70556700..70559340,2	K562	blood:

No data

Variant related genes	Relation type
EXOSC6	TF binding region
ENSG00000261556	TF binding region
EXOSC6	CpG island
ENSG00000261556	CpG island
ENSG00000103051	chromatin interactions
ENSG00000177700	chromatin interactions
ENSG00000189091	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000261556	chromatin interactions
ENSG00000157349	chromatin interactions
ENSG00000141979	chromatin interactions
ENSG00000132470	chromatin interactions
ENSG00000260537	chromatin interactions
ENSG00000214063	chromatin interactions
ENSG00000264875	chromatin interactions
ENSG00000223496	chromatin interactions
ENSG00000168872	chromatin interactions
ENSG00000163113	chromatin interactions
ENSG00000265648	chromatin interactions
ENSG00000105085	chromatin interactions
ENSG00000164754	chromatin interactions
ENSG00000265230	chromatin interactions
ENSG00000090861	chromatin interactions

Extended variants
information (count: 223 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549035887	chr16:70283166-70283167	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs567284011	chr16:70283179-70283180	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs537653638	chr16:70283180-70283181	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs142397457	chr16:70283193-70283194	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs547273653	chr16:70283199-70283200	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs12928369	chr16:70283211-70283212	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571706777	chr16:70283250-70283251	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs191295874	chr16:70283283-70283284	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557170061	chr16:70283296-70283297	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs60853300	chr16:70283297-70283298	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs540620751	chr16:70283300-70283301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs565687345	chr16:70283329-70283330	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12928160	chr16:70283336-70283337	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569037457	chr16:70283343-70283344	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs147932059	chr16:70283352-70283353	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs140139054	chr16:70283361-70283362	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572905929	chr16:70283383-70283384	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184560226	chr16:70283389-70283390	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145683932	chr16:70283421-70283422	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577760743	chr16:70283426-70283427	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs545217754	chr16:70283427-70283428	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375774378	chr16:70283447-70283448	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs575463624	chr16:70283450-70283451	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs530589231	chr16:70283483-70283484	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs542763625	chr16:70283495-70283496	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs560816818	chr16:70283532-70283533	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs8063675	chr16:70283579-70283580	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546965822	chr16:70283592-70283593	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs113298356	chr16:70283599-70283600	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs116679753	chr16:70283601-70283602	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs532574714	chr16:70283604-70283605	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs551190400	chr16:70283605-70283606	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs368527899	chr16:70283653-70283654	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs569122785	chr16:70283673-70283674	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs372926734	chr16:70283762-70283763	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs554652339	chr16:70283808-70283809	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147762087	chr16:70283875-70283876	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534246365	chr16:70283884-70283885	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189397089	chr16:70283909-70283910	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577905465	chr16:70283936-70283937	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374698242	chr16:70283972-70283973	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs191979105	chr16:70284004-70284005	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs140076026	chr16:70284008-70284009	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs542702378	chr16:70284009-70284010	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs150418689	chr16:70284027-70284028	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs201368890	chr16:70284032-70284033	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs56219561	chr16:70284042-70284043	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs561003930	chr16:70284050-70284051	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs150309683	chr16:70284053-70284054	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs374730893	chr16:70284085-70284086	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	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
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20841430	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:752 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70232400-70284800	Weak transcription	Spleen	Spleen
2	chr16:70233200-70283400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr16:70233200-70283600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:70235600-70284200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:70237200-70284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:70238600-70284800	Weak transcription	Esophagus	oesophagus
7	chr16:70238800-70283400	Weak transcription	NHEK	skin
8	chr16:70238800-70283600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:70239600-70283400	Weak transcription	Brain Angular Gyrus	brain
10	chr16:70241000-70283600	Weak transcription	Brain Germinal Matrix	brain
11	chr16:70242200-70283400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:70242800-70283400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr16:70243200-70283400	Weak transcription	NH-A	brain
14	chr16:70245000-70283400	Weak transcription	Brain Anterior Caudate	brain
15	chr16:70245800-70283400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr16:70246400-70283400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:70246400-70283400	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:70247800-70283200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr16:70248000-70283200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr16:70248000-70283400	Weak transcription	HMEC	breast
21	chr16:70249000-70284800	Weak transcription	Brain Hippocampus Middle	brain
22	chr16:70249600-70284200	Weak transcription	Brain Substantia Nigra	brain
23	chr16:70250800-70283200	Weak transcription	K562	blood
24	chr16:70250800-70283600	Weak transcription	Right Ventricle	heart
25	chr16:70251000-70284200	Weak transcription	Placenta	Placenta
26	chr16:70252600-70284000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr16:70252600-70284200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr16:70253400-70283400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr16:70254000-70283200	Weak transcription	Primary T cells from cord blood	blood
30	chr16:70254600-70284200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr16:70257400-70283600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:70259200-70284200	Weak transcription	Gastric	stomach
33	chr16:70259400-70284600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:70259600-70284200	Weak transcription	Pancreas	Pancrea
35	chr16:70260800-70284200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr16:70261400-70283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:70261400-70283400	Weak transcription	Left Ventricle	heart
38	chr16:70261800-70283400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr16:70261800-70283400	Weak transcription	Fetal Brain Female	brain
40	chr16:70261800-70283400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr16:70261800-70284200	Weak transcription	Thymus	Thymus
42	chr16:70261800-70284800	Weak transcription	Lung	lung
43	chr16:70263000-70283400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr16:70265400-70284800	Weak transcription	HSMMtube	muscle
45	chr16:70267000-70284000	Weak transcription	Fetal Kidney	kidney
46	chr16:70267800-70284200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr16:70268000-70283400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr16:70268000-70283400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:70268000-70283400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr16:70268000-70283400	Weak transcription	Duodenum Mucosa	Duodenum

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