Variant report

Variant	nsv906869
Chromosome Location	chr16:70285901-70292810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1250)
CpG islands
(count:550)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1250 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:70285768-70286158	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:70285693-70286285	K562	blood:	n/a	n/a
3	ATF2	chr16:70285560-70286287	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr16:70285539-70286157	GM12878	blood:	n/a	n/a
5	ATF2	chr16:70285578-70286117	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr16:70285719-70286058	GM12878	blood:	n/a	n/a
7	ATF3	chr16:70285713-70286019	K562	blood:	n/a	n/a
8	ATF3	chr16:70285595-70286202	A549	lung:	n/a	n/a
9	ATF3	chr16:70285482-70286054	A549	lung:	n/a	n/a
10	BACH1	chr16:70285758-70286009	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr16:70286012-70286116	K562	blood:	n/a	n/a
12	BACH1	chr16:70287969-70288168	K562	blood:	n/a	n/a
13	BCL3	chr16:70285249-70286114	GM12878	blood:	n/a	chr16:70285921-70285929
14	BCL3	chr16:70285545-70286396	K562	blood:	n/a	chr16:70285921-70285929
15	BCL3	chr16:70285515-70286212	A549	lung:	n/a	chr16:70285921-70285929
16	BCL3	chr16:70285551-70286540	K562	blood:	n/a	chr16:70285921-70285929
17	BCL3	chr16:70285533-70286181	A549	lung:	n/a	chr16:70285921-70285929
18	BCLAF1	chr16:70285551-70286111	GM12878	blood:	n/a	chr16:70285921-70285929
19	BCLAF1	chr16:70285593-70286227	K562	blood:	n/a	chr16:70285921-70285929
20	BCLAF1	chr16:70285447-70286184	GM12878	blood:	n/a	chr16:70285921-70285929
21	BHLHE40	chr16:70285648-70286831	K562	blood:	n/a	n/a
22	BHLHE40	chr16:70285568-70286166	HepG2	liver:	n/a	n/a
23	BHLHE40	chr16:70285592-70286156	GM12878	blood:	n/a	n/a
24	BRCA1	chr16:70287802-70288021	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr16:70285768-70286097	HepG2	liver:	n/a	n/a
26	BRCA1	chr16:70286717-70286750	HepG2	liver:	n/a	n/a
27	BRCA1	chr16:70285742-70286404	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr16:70285785-70286197	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr16:70285754-70286060	GM12878	blood:	n/a	n/a
30	CBX3	chr16:70285595-70286190	K562	blood:	n/a	n/a
31	CBX3	chr16:70285701-70286041	K562	blood:	n/a	n/a
32	CCNT2	chr16:70288692-70288957	K562	blood:	n/a	n/a
33	CCNT2	chr16:70284868-70286831	K562	blood:	n/a	n/a
34	CCNT2	chr16:70287267-70288128	K562	blood:	n/a	chr16:70287375-70287384
35	CEBPB	chr16:70285871-70285986	HepG2	liver:	n/a	n/a
36	CEBPB	chr16:70285767-70286062	K562	blood:	n/a	n/a
37	CEBPB	chr16:70285934-70286005	K562	blood:	n/a	n/a
38	CEBPB	chr16:70285637-70286311	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr16:70285616-70286218	GM12878	blood:	n/a	n/a
40	CEBPD	chr16:70285598-70286074	HepG2	liver:	n/a	n/a
41	CEBPD	chr16:70285569-70286448	K562	blood:	n/a	n/a
42	CEBPD	chr16:70285729-70286026	HepG2	liver:	n/a	n/a
43	CHD1	chr16:70284609-70286363	IMR90	lung:	n/a	n/a
44	CHD1	chr16:70285577-70286195	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr16:70285084-70286218	GM12878	blood:	n/a	n/a
46	CHD2	chr16:70284939-70287070	K562	blood:	n/a	n/a
47	CHD2	chr16:70285638-70286105	GM12878	blood:	n/a	n/a
48	CHD2	chr16:70285285-70286168	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr16:70285651-70286087	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr16:70285636-70286106	HepG2	liver:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70285955-70286005	AG04449	skin:	fetal
2	chr16:70285955-70286005	AG04449	skin:	fetal
3	chr16:70288652-70288702	ECC-1	luminal epithelium:	n/a
4	chr16:70285910-70285960	HPAEpiC	pulmonary alveolar:	n/a
5	chr16:70285955-70286005	SK-N-MC	brain:	n/a
6	chr16:70285955-70286005	Caco-2	colon:	n/a
7	chr16:70288652-70288702	HCT-116	colon:	n/a
8	chr16:70288652-70288702	Jurkat	blood:	n/a
9	chr16:70286779-70286829	NB4	blood:	n/a
10	chr16:70286329-70286379	MCF-7	breast:	n/a
11	chr16:70285978-70286028	HCF	heart:	n/a
12	chr16:70286390-70286440	NHBE	bronchial:	n/a
13	chr16:70286779-70286829	HMEC	breast:	n/a
14	chr16:70286329-70286379	SK-N-SH	brain:	n/a
15	chr16:70286346-70286396	AG04449	skin:	fetal
16	chr16:70286346-70286396	PrEC	prostate:	n/a
17	chr16:70286346-70286396	HRCEpiC	kidney:	n/a
18	chr16:70286430-70286480	HCT-116	colon:	n/a
19	chr16:70286430-70286480	H1-hESC	embryonic stem cell:	embryo
20	chr16:70285955-70286005	HL-60	blood:	n/a
21	chr16:70285955-70286005	AG09319	gingival:	n/a
22	chr16:70286779-70286829	AG04449	skin:	fetal
23	chr16:70286779-70286829	HL-60	blood:	n/a
24	chr16:70286390-70286440	HCM	heart:	n/a
25	chr16:70286390-70286440	NH-A	brain:	n/a
26	chr16:70288652-70288702	IMR90	lung:	fetal
27	chr16:70286390-70286440	PrEC	prostate:	n/a
28	chr16:70286779-70286829	PFSK-1	brain:	n/a
29	chr16:70285955-70286005	HIPEpiC	eye:	n/a
30	chr16:70286430-70286480	LNCaP	prostate:	n/a
31	chr16:70285978-70286028	SKMC	muscle:	n/a
32	chr16:70286390-70286440	HEK293	kidney:	embryo
33	chr16:70286329-70286379	NT2-D1	testis:	n/a
34	chr16:70285978-70286028	HCPEpiC	choroid plexus:	n/a
35	chr16:70286390-70286440	HRE	kidney:	n/a
36	chr16:70286779-70286829	AG09309	skin:	n/a
37	chr16:70286430-70286480	IMR90	lung:	fetal
38	chr16:70286779-70286829	Hela-S3	cervix:	n/a
39	chr16:70286430-70286480	NHDF-neo	bronchial:	n/a
40	chr16:70288652-70288702	BE2_C	brain:	n/a
41	chr16:70286346-70286396	Hepatocyte	liver:	n/a
42	chr16:70285955-70286005	PANC-1	pancreas:	n/a
43	chr16:70286430-70286480	RPTEC	kidney:	n/a
44	chr16:70285978-70286028	PFSK-1	brain:	n/a
45	chr16:70288652-70288702	K562	blood:	n/a
46	chr16:70285978-70286028	NHBE	bronchial:	n/a
47	chr16:70286329-70286379	LNCaP	prostate:	n/a
48	chr16:70286779-70286829	SK-N-SH	brain:	n/a
49	chr16:70285910-70285960	HCPEpiC	choroid plexus:	n/a
50	chr16:70286329-70286379	HNPCEpiC	eye:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70284207..70286196-chr16:70321648..70323975,3	MCF-7	breast:
2	chr16:70286246..70291555-chr16:70316780..70324702,12	K562	blood:
3	chr16:70278247..70283453-chr16:70284015..70287841,6	MCF-7	breast:
4	chr11:842040..842913-chr16:70285376..70285907,2	HCT-116	colon:
5	chr16:70284942..70287057-chr16:70291525..70294943,4	K562	blood:
6	chr16:70283970..70285913-chr16:70380669..70382950,2	K562	blood:
7	chr16:70284511..70286776-chr16:70330314..70334173,3	MCF-7	breast:
8	chr16:70284251..70286200-chr16:70298122..70301114,5	MCF-7	breast:
9	chr16:70285539..70287292-chr16:70288159..70289813,2	K562	blood:
10	chr16:70284942..70287057-chr16:70291525..70294943,4	K562	blood:
11	chr16:70286317..70289211-chr16:70320911..70324702,4	K562	blood:
12	chr16:70285239..70287287-chr16:70556700..70559340,2	K562	blood:
13	chr1:149982029..149982749-chr16:70285430..70285983,2	Hela-S3	cervix:
14	chr16:70284505..70286615-chr16:70556732..70559559,2	MCF-7	breast:
15	chr16:70284023..70286504-chr16:70288098..70289777,2	MCF-7	breast:
16	chr16:70285081..70287489-chr16:70291525..70295571,5	K562	blood:
17	chr16:70287173..70288856-chr16:70293033..70295926,2	MCF-7	breast:
18	chr16:70285325..70286015-chr8:117886552..117887078,2	HCT-116	colon:
19	chr16:70285876..70288887-chr16:70302566..70307390,4	K562	blood:
20	chr16:70287987..70291315-chr16:70292990..70294752,3	K562	blood:
21	chr16:70287090..70289744-chr16:70321659..70325168,3	MCF-7	breast:
22	chr16:70287320..70289608-chr16:70290173..70293534,4	K562	blood:
23	chr16:70279244..70282169-chr16:70284255..70286230,4	K562	blood:
24	chr16:70279273..70282169-chr16:70284255..70286204,3	K562	blood:
25	chr16:70285412..70287242-chr16:70288955..70291025,2	K562	blood:
26	chr16:70285367..70286970-chr17:73718097..73720794,2	MCF-7	breast:
27	chr16:70284271..70287113-chr16:70301564..70303205,2	MCF-7	breast:
28	chr16:70285081..70287489-chr16:70291525..70295571,5	K562	blood:
29	chr16:70286360..70288555-chr16:70308791..70311038,2	K562	blood:
30	chr16:70289607..70292133-chr16:70294399..70296024,2	K562	blood:
31	chr16:70285343..70285906-chr19:16738980..16739732,2	Hela-S3	cervix:

No data

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

Extended variants
information (count: 350 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4985407	chr16:70285901-70285902	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567705357	chr16:70285997-70285998	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs186345193	chr16:70286005-70286006	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs141817204	chr16:70286006-70286007	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs572681929	chr16:70286024-70286025	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs546490022	chr16:70286046-70286047	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs571886464	chr16:70286086-70286087	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs145181184	chr16:70286146-70286147	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs74024180	chr16:70286148-70286149	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543895690	chr16:70286188-70286189	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs114213309	chr16:70286228-70286229	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs574061125	chr16:70286258-70286259	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs541101578	chr16:70286266-70286267	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs76884167	chr16:70286292-70286293	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs375263816	chr16:70286295-70286296	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs141837805	chr16:70286300-70286301	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs184037337	chr16:70286346-70286347	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs186934638	chr16:70286349-70286350	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs567840201	chr16:70286372-70286373	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs116553521	chr16:70286373-70286374	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs547043196	chr16:70286391-70286392	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs191779998	chr16:70286395-70286396	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs539696948	chr16:70286410-70286411	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs150625194	chr16:70286411-70286412	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs540550638	chr16:70286443-70286444	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs574918984	chr16:70286449-70286450	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs554221793	chr16:70286455-70286456	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs1049384	chr16:70286460-70286461	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs576707006	chr16:70286483-70286484	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs537670194	chr16:70286488-70286489	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs555883502	chr16:70286493-70286494	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs574017072	chr16:70286508-70286509	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs562039109	chr16:70286535-70286536	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs11537663	chr16:70286550-70286551	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs559443649	chr16:70286563-70286564	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs370558100	chr16:70286584-70286585	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs374928473	chr16:70286590-70286591	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs367969052	chr16:70286591-70286592	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs371469608	chr16:70286607-70286608	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs577979624	chr16:70286623-70286624	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs35744709	chr16:70286631-70286632	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs75033663	chr16:70286642-70286643	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs375581174	chr16:70286660-70286661	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs146540551	chr16:70286661-70286662	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs375263515	chr16:70286686-70286687	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs140048586	chr16:70286714-70286715	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs149377346	chr16:70286740-70286741	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs183076680	chr16:70286780-70286781	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs369774476	chr16:70286793-70286794	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs199839663	chr16:70286801-70286802	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 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:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70283400-70286000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70283400-70286000	Active TSS	A549	lung
3	chr16:70283600-70286000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:70283600-70286000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr16:70283600-70286000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr16:70283600-70286000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr16:70283600-70286000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:70283600-70286200	Active TSS	Hela-S3	cervix
9	chr16:70283800-70286000	Active TSS	K562	blood
10	chr16:70284000-70286000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr16:70284000-70286000	Active TSS	NH-A	brain
12	chr16:70284200-70286000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr16:70284200-70286000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr16:70284200-70286000	Active TSS	Fetal Intestine Small	intestine
15	chr16:70284200-70286000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr16:70284200-70286000	Active TSS	HSMM	muscle
17	chr16:70284400-70286000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr16:70284400-70286000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:70284400-70286000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr16:70284400-70286000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:70284400-70286000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:70284400-70286000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr16:70284400-70286000	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr16:70284400-70286000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr16:70284400-70286000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:70284400-70286000	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr16:70284400-70286000	Active TSS	Fetal Thymus	thymus
28	chr16:70284400-70286000	Active TSS	Rectal Smooth Muscle	rectum
29	chr16:70284400-70286000	Active TSS	HUVEC	blood vessel
30	chr16:70284400-70286000	Active TSS	Osteobl	bone
31	chr16:70284400-70286200	Active TSS	Fetal Brain Female	brain
32	chr16:70284600-70286000	Weak transcription	Fetal Heart	heart
33	chr16:70284600-70286000	Active TSS	Thymus	Thymus
34	chr16:70284600-70286200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:70284600-70286200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:70284800-70286000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:70284800-70286000	Active TSS	Muscle Satellite Cultured Cells	--
38	chr16:70284800-70286000	Active TSS	Colon Smooth Muscle	Colon
39	chr16:70284800-70286000	Active TSS	Gastric	stomach
40	chr16:70284800-70286000	Active TSS	Left Ventricle	heart
41	chr16:70284800-70286000	Active TSS	Lung	lung
42	chr16:70284800-70286000	Active TSS	Ovary	ovary
43	chr16:70284800-70286000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr16:70284800-70286000	Active TSS	Stomach Smooth Muscle	stomach
45	chr16:70284800-70286000	Active TSS	HMEC	breast
46	chr16:70284800-70286200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr16:70284800-70286400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr16:70285000-70286000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:70285000-70286000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:70285000-70286000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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