Variant report

Variant	nsv457704
Chromosome Location	chr17:19620477-19663747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1778)
CpG islands
(count:2077)
Chromatin interactive
region (count:61)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1778 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:19637219-19637777	HepG2	liver:	n/a	n/a
2	ATF2	chr17:19658022-19658493	GM12878	blood:	n/a	n/a
3	ATF3	chr17:19650727-19652245	A549	lung:	n/a	n/a
4	ATF3	chr17:19655686-19657537	A549	lung:	n/a	n/a
5	ATF3	chr17:19650542-19652172	A549	lung:	n/a	n/a
6	ATF3	chr17:19648205-19649320	A549	lung:	n/a	n/a
7	ATF3	chr17:19656201-19656926	A549	lung:	n/a	n/a
8	ATF3	chr17:19657083-19657608	A549	lung:	n/a	n/a
9	BACH1	chr17:19657204-19657396	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr17:19656327-19656687	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr17:19659137-19659427	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:19658028-19658373	GM12878	blood:	n/a	n/a
13	BCL11A	chr17:19659127-19659464	GM12878	blood:	n/a	n/a
14	BCL3	chr17:19659031-19659510	GM12878	blood:	n/a	n/a
15	BCL3	chr17:19649497-19652317	A549	lung:	n/a	chr17:19650882-19650891 chr17:19650661-19650670 chr17:19652047-19652060
16	BCL3	chr17:19644189-19644944	A549	lung:	n/a	n/a
17	BCL3	chr17:19642441-19642689	GM12878	blood:	n/a	n/a
18	BCL3	chr17:19655354-19657717	A549	lung:	n/a	n/a
19	BCL3	chr17:19655518-19657605	A549	lung:	n/a	n/a
20	BCL3	chr17:19653915-19654306	GM12878	blood:	n/a	n/a
21	BCL3	chr17:19649776-19650181	GM12878	blood:	n/a	n/a
22	BCL3	chr17:19648208-19649440	A549	lung:	n/a	n/a
23	BCL3	chr17:19639259-19639854	A549	lung:	n/a	n/a
24	BCL3	chr17:19649731-19650246	GM12878	blood:	n/a	n/a
25	BCL3	chr17:19637347-19638474	A549	lung:	n/a	n/a
26	BCL3	chr17:19647775-19653407	A549	lung:	n/a	chr17:19652977-19652986 chr17:19650882-19650891 chr17:19650661-19650670 chr17:19652047-19652060
27	BCL3	chr17:19638583-19639203	A549	lung:	n/a	n/a
28	BCL3	chr17:19637261-19639226	A549	lung:	n/a	n/a
29	BHLHE40	chr17:19648268-19648486	GM12878	blood:	n/a	chr17:19648465-19648481
30	BHLHE40	chr17:19623965-19624467	HepG2	liver:	n/a	chr17:19624213-19624222 chr17:19624214-19624223 chr17:19624211-19624224 chr17:19624207-19624228
31	BHLHE40	chr17:19624065-19624227	A549	lung:	n/a	chr17:19624213-19624222 chr17:19624214-19624223 chr17:19624211-19624224
32	BHLHE40	chr17:19655484-19656735	A549	lung:	n/a	n/a
33	BRCA1	chr17:19624382-19624574	HepG2	liver:	n/a	n/a
34	BRCA1	chr17:19656321-19657468	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr17:19623902-19624090	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr17:19621445-19622377	HepG2	liver:	n/a	n/a
37	BRCA1	chr17:19648387-19648505	GM12878	blood:	n/a	n/a
38	BRCA1	chr17:19627329-19627538	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr17:19637381-19637655	HepG2	liver:	n/a	n/a
40	CEBPB	chr17:19623938-19624550	ECC-1	luminal epithelium:	n/a	n/a
41	CEBPB	chr17:19624151-19624410	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr17:19634397-19634571	HepG2	liver:	n/a	chr17:19634463-19634474
43	CEBPB	chr17:19655207-19655486	ECC-1	luminal epithelium:	n/a	n/a
44	CEBPB	chr17:19631319-19631743	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr17:19649967-19650290	A549	lung:	n/a	chr17:19650157-19650170
46	CEBPB	chr17:19655106-19655389	A549	lung:	n/a	n/a
47	CEBPB	chr17:19630410-19631030	A549	lung:	n/a	n/a
48	CEBPB	chr17:19651285-19652664	A549	lung:	n/a	n/a
49	CEBPB	chr17:19651601-19652181	A549	lung:	n/a	n/a
50	CEBPB	chr17:19630029-19630192	A549	lung:	n/a	n/a

(count:2077 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:19649293-19649343	SK-N-MC	brain:	n/a
2	chr17:19648157-19648207	BE2_C	brain:	n/a
3	chr17:19651940-19651990	NT2-D1	testis:	n/a
4	chr17:19649293-19649343	SK-N-MC	brain:	n/a
5	chr17:19648157-19648207	BE2_C	brain:	n/a
6	chr17:19651940-19651990	NT2-D1	testis:	n/a
7	chr17:19651190-19651240	MCF-7	breast:	n/a
8	chr17:19645622-19645672	HCM	heart:	n/a
9	chr17:19628292-19628342	NHBE	bronchial:	n/a
10	chr17:19652056-19652106	Caco-2	colon:	n/a
11	chr17:19628292-19628342	HAEpiC	amniotic membrane:	n/a
12	chr17:19648718-19648768	HCPEpiC	choroid plexus:	n/a
13	chr17:19620595-19620645	GM12892	blood:	n/a
14	chr17:19652257-19652307	AG09319	gingival:	n/a
15	chr17:19649051-19649101	MCF-7	breast:	n/a
16	chr17:19648846-19648896	HEEpiC	esophagus:	n/a
17	chr17:19656554-19656604	HAEpiC	amniotic membrane:	n/a
18	chr17:19652056-19652106	HCM	heart:	n/a
19	chr17:19649004-19649054	ECC-1	luminal epithelium:	n/a
20	chr17:19628421-19628471	H1-hESC	embryonic stem cell:	embryo
21	chr17:19648972-19649022	CMK	blood:	n/a
22	chr17:19648925-19648975	HCPEpiC	choroid plexus:	n/a
23	chr17:19648972-19649022	AG04450	lung:	fetal
24	chr17:19651190-19651240	CMK	blood:	n/a
25	chr17:19651983-19652033	NHDF-neo	bronchial:	n/a
26	chr17:19656554-19656604	IMR90	lung:	fetal
27	chr17:19651190-19651240	T-47D	breast:	n/a
28	chr17:19648972-19649022	LNCaP	prostate:	n/a
29	chr17:19651653-19651703	HCPEpiC	choroid plexus:	n/a
30	chr17:19624390-19624440	HepG2	liver:	n/a
31	chr17:19628087-19628137	HNPCEpiC	eye:	n/a
32	chr17:19649004-19649054	GM12892	blood:	n/a
33	chr17:19627822-19627872	U87	brain:	n/a
34	chr17:19628421-19628471	IMR90	lung:	fetal
35	chr17:19651653-19651703	HCT-116	colon:	n/a
36	chr17:19624390-19624440	HPAEpiC	pulmonary alveolar:	n/a
37	chr17:19648853-19648903	HNPCEpiC	eye:	n/a
38	chr17:19650069-19650119	NHDF-neo	bronchial:	n/a
39	chr17:19628012-19628062	AG04450	lung:	fetal
40	chr17:19620595-19620645	RPTEC	kidney:	n/a
41	chr17:19651881-19651931	T-47D	breast:	n/a
42	chr17:19648157-19648207	HCM	heart:	n/a
43	chr17:19624390-19624440	MCF10A-Er-Src	breast:	n/a
44	chr17:19648414-19648464	HCT-116	colon:	n/a
45	chr17:19628292-19628342	PANC-1	pancreas:	n/a
46	chr17:19650069-19650119	A549	lung:	n/a
47	chr17:19649293-19649343	HUVEC	blood vessel:	n/a
48	chr17:19656554-19656604	HRE	kidney:	n/a
49	chr17:19648414-19648464	AoSMC	blood vessel:	n/a
50	chr17:19628421-19628471	K562	blood:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:19647645..19649705-chr17:19651744..19653267,2	MCF-7	breast:
2	chr17:19616686..19619985-chr17:19620299..19623719,4	MCF-7	breast:
3	chr11:67397006..67400354-chr17:19655005..19658242,3	MCF-7	breast:
4	chr17:19662944..19666237-chr17:19667873..19670439,4	MCF-7	breast:
5	chr17:19625321..19633420-chr17:19643892..19652817,11	MCF-7	breast:
6	chr17:19551445..19552984-chr17:19627391..19629218,2	MCF-7	breast:
7	chr17:19482050..19483613-chr17:19630992..19632977,2	MCF-7	breast:
8	chr17:19657133..19657845-chr20:45802558..45803277,2	MCF-7	breast:
9	chr17:19647645..19649705-chr17:19651744..19653267,2	MCF-7	breast:
10	chr11:67382088..67384067-chr17:19655991..19658673,2	MCF-7	breast:
11	chr1:118155066..118155566-chr17:19622783..19623320,2	MCF-7	breast:
12	chr17:19645239..19646933-chr17:19648650..19650817,2	MCF-7	breast:
13	chr17:19654497..19661140-chr17:19661473..19671609,12	MCF-7	breast:
14	chr17:19627605..19629507-chr17:19658894..19661026,2	MCF-7	breast:
15	chr17:19621105..19622742-chr17:19656130..19658211,2	MCF-7	breast:
16	chr17:19649191..19653636-chr17:19654131..19659903,8	MCF-7	breast:
17	chr17:19627403..19631543-chr17:19639531..19642900,3	MCF-7	breast:
18	chr17:19634897..19636711-chr17:19636804..19638425,2	MCF-7	breast:
19	chr17:19641453..19644108-chr17:19654195..19656369,2	MCF-7	breast:
20	chr17:19616430..19618663-chr17:19620797..19622524,3	MCF-7	breast:
21	chr17:19651262..19653097-chr17:19654120..19656277,2	K562	blood:
22	chr11:67379967..67381601-chr17:19627957..19630440,2	MCF-7	breast:
23	chr11:67406449..67409216-chr17:19654457..19656822,7	MCF-7	breast:
24	chr11:67139722..67141643-chr17:19656038..19657945,2	MCF-7	breast:
25	chr11:67372115..67374476-chr17:19649917..19652325,2	MCF-7	breast:
26	chr17:19618499..19621223-chr17:19641121..19642987,2	MCF-7	breast:
27	chr17:19627605..19629507-chr17:19658894..19661026,2	MCF-7	breast:
28	chr11:67370569..67373136-chr17:19651754..19653561,2	MCF-7	breast:
29	chr17:19656684..19658708-chr17:19659226..19661401,3	MCF-7	breast:
30	chr17:19618336..19623572-chr17:19629964..19633338,7	MCF-7	breast:
31	chr11:67380566..67382466-chr17:19627123..19628760,2	MCF-7	breast:
32	chr17:19641453..19644108-chr17:19654195..19656369,2	MCF-7	breast:
33	chr11:67380849..67383590-chr17:19654631..19658826,3	MCF-7	breast:
34	chr17:19622195..19622792-chr17:19656909..19657524,3	MCF-7	breast:
35	chr17:19645239..19646933-chr17:19648650..19650817,2	MCF-7	breast:
36	chr17:19617480..19620219-chr17:19627311..19629602,2	MCF-7	breast:
37	chr17:19641018..19644006-chr17:19644134..19645974,2	K562	blood:
38	chr17:19626221..19628262-chr17:19634519..19636560,2	MCF-7	breast:
39	chr17:19550345..19551966-chr17:19622078..19623602,2	MCF-7	breast:
40	chr11:67407271..67408048-chr17:19655503..19656398,3	MCF-7	breast:
41	chr17:19657020..19657638-chr17:19669487..19670405,2	MCF-7	breast:
42	chr17:19641924..19645093-chr17:19650303..19652085,4	MCF-7	breast:
43	chr17:19656623..19657451-chr17:19665588..19666274,2	MCF-7	breast:
44	chr11:67149008..67150613-chr17:19656460..19658061,2	MCF-7	breast:
45	chr17:19634897..19636711-chr17:19636804..19638425,2	MCF-7	breast:
46	chr11:67397884..67398710-chr17:19656962..19657673,2	MCF-7	breast:
47	chr17:19649191..19653636-chr17:19654131..19659903,8	MCF-7	breast:
48	chr17:19617555..19619828-chr17:19622180..19625084,2	K562	blood:
49	chr11:67396737..67399523-chr17:19660165..19662735,2	MCF-7	breast:
50	chr11:67372621..67374795-chr17:19647401..19649907,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALDH3A2-2	chr17:19640995-19641253	ENSG00000264785.1
2	lnc-ALDH3A2-1	chr17:19622372-19625741	ENSG00000262681.2
3	lnc-ALDH3A1-1	chr17:19620850-19620998	NONHSAT146521
4	lnc-ALDH3A2-2	chr17:19641669-19641855	ENSG00000264785.1
5	lnc-ALDH3A1-1	chr17:19621424-19623686	NONHSAT146521
6	lnc-ALDH3A1-1	chr17:19619037-19622150	NONHSAT146520

No data

Variant related genes	Relation type
ENSG00000230607	TF binding region
ALDH3A1	TF binding region
SLC47A2	TF binding region
ENSG00000264785	TF binding region
ENSG00000262681	TF binding region
ENSG00000230607	CpG island
ALDH3A1	CpG island
SLC47A2	CpG island
ENSG00000264785	CpG island
ENSG00000262681	CpG island
ENSG00000264932	chromatin interactions
ENSG00000184224	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000264785	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000180638	chromatin interactions
ENSG00000256514	chromatin interactions
ENSG00000167800	chromatin interactions
ENSG00000228983	chromatin interactions
ENSG00000072210	chromatin interactions
ENSG00000167792	chromatin interactions
ENSG00000230607	chromatin interactions
ENSG00000262681	chromatin interactions
ENSG00000255119	chromatin interactions
ENSG00000231793	chromatin interactions
ENSG00000108602	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000245149	chromatin interactions

Extended variants
information (count: 1916 )
Associated
traits (count: 157 )

Variant overlapped rSNPs/rCNVs (count:1916 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs758427	chr17:19620477-19620478	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185438214	chr17:19620479-19620480	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs540396202	chr17:19620502-19620503	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs554030232	chr17:19620503-19620504	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs573730059	chr17:19620526-19620527	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs758426	chr17:19620624-19620625	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562334562	chr17:19620627-19620628	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs533198821	chr17:19620708-19620709	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs187559118	chr17:19620769-19620770	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs564833002	chr17:19620803-19620804	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs192293431	chr17:19620813-19620814	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs2891935	chr17:19620821-19620822	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs184437646	chr17:19620836-19620837	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs138255641	chr17:19620875-19620876	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs375204992	chr17:19620902-19620903	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs374943684	chr17:19620919-19620920	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs529339443	chr17:19620949-19620950	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs117410450	chr17:19620971-19620972	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs569136275	chr17:19621019-19621020	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs80151385	chr17:19621026-19621027	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs146859478	chr17:19621055-19621056	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs377713312	chr17:19621059-19621060	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs571490400	chr17:19621060-19621061	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs371395003	chr17:19621064-19621065	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs534081898	chr17:19621084-19621085	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs375102204	chr17:19621120-19621121	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs553968864	chr17:19621153-19621154	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs573921921	chr17:19621154-19621155	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs536347875	chr17:19621156-19621157	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs556249488	chr17:19621225-19621226	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs575931481	chr17:19621274-19621275	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs77980068	chr17:19621275-19621276	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs544952854	chr17:19621304-19621305	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs564732474	chr17:19621323-19621324	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs536532727	chr17:19621384-19621385	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs188859346	chr17:19621431-19621432	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs560313856	chr17:19621452-19621453	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs529473684	chr17:19621460-19621461	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs563481302	chr17:19621478-19621479	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs549194154	chr17:19621524-19621525	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs562967244	chr17:19621530-19621531	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs531736178	chr17:19621568-19621569	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs551706579	chr17:19621574-19621575	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs140655834	chr17:19621611-19621612	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs145910687	chr17:19621614-19621615	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs116202639	chr17:19621647-19621648	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs181240143	chr17:19621658-19621659	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs529353431	chr17:19621713-19621714	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs184508647	chr17:19621750-19621751	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs556098653	chr17:19621754-19621755	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:157)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Autism	22543975	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Lung adenocarcinoma	21935476	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1354 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19607600-19627400	Weak transcription	Right Atrium	heart
2	chr17:19616200-19621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:19617600-19635400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr17:19618200-19620600	Weak transcription	Gastric	stomach
5	chr17:19618200-19623200	Weak transcription	Pancreas	Pancrea
6	chr17:19618400-19620600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr17:19619400-19620600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:19619400-19620800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr17:19619400-19622200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:19619400-19622200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:19619400-19622400	Enhancers	A549	lung
12	chr17:19619400-19622800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr17:19619400-19624800	Enhancers	Esophagus	oesophagus
14	chr17:19619400-19625000	Enhancers	Fetal Muscle Leg	muscle
15	chr17:19619600-19621600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr17:19619600-19621800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:19619600-19622200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:19619600-19622200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr17:19619600-19625000	Enhancers	HMEC	breast
20	chr17:19619800-19622000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:19619800-19622000	Enhancers	NHEK	skin
22	chr17:19619800-19627800	Enhancers	Fetal Intestine Large	intestine
23	chr17:19620000-19621200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr17:19620000-19624800	Enhancers	HSMMtube	muscle
25	chr17:19620000-19628000	Enhancers	Fetal Intestine Small	intestine
26	chr17:19620200-19620600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr17:19620200-19620600	Enhancers	Brain Anterior Caudate	brain
28	chr17:19620200-19621200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:19620200-19621400	Bivalent Enhancer	HepG2	liver
30	chr17:19620200-19624800	Enhancers	Stomach Mucosa	stomach
31	chr17:19620400-19620600	Active TSS	Spleen	Spleen
32	chr17:19620400-19623800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:19620400-19625000	Enhancers	Colonic Mucosa	Colon
34	chr17:19620600-19620800	Enhancers	Small Intestine	intestine
35	chr17:19620600-19621600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr17:19620600-19622000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:19620600-19622600	Enhancers	Gastric	stomach
38	chr17:19620600-19622600	Weak transcription	Spleen	Spleen
39	chr17:19620600-19623200	Enhancers	Duodenum Mucosa	Duodenum
40	chr17:19620600-19627400	Weak transcription	Brain Anterior Caudate	brain
41	chr17:19620800-19623600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr17:19620800-19624800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr17:19621200-19621600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr17:19621200-19622600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr17:19621200-19623200	Weak transcription	Small Intestine	intestine
46	chr17:19621200-19624800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr17:19621400-19621800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:19621400-19621800	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr17:19621400-19622800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr17:19621400-19623400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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