Variant report

Variant	nsv575103
Chromosome Location	chr17:43485791-43497054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:240)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:240 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr17:43487726-43488085	GM12878	blood:	n/a	n/a
2	BCLAF1	chr17:43487438-43488180	GM12878	blood:	n/a	n/a
3	CEBPB	chr17:43489202-43489290	Hela-S3	cervix:	n/a	chr17:43489222-43489233 chr17:43489221-43489234
4	CEBPB	chr17:43489088-43489370	K562	blood:	n/a	chr17:43489222-43489233 chr17:43489221-43489234
5	CEBPB	chr17:43489109-43489317	HepG2	liver:	n/a	chr17:43489222-43489233 chr17:43489221-43489234
6	CHD1	chr17:43487579-43487988	GM12878	blood:	n/a	n/a
7	CHD2	chr17:43489340-43489842	GM12878	blood:	n/a	n/a
8	CHD2	chr17:43490823-43491050	GM12878	blood:	n/a	n/a
9	CHD2	chr17:43486653-43486711	GM12878	blood:	n/a	n/a
10	CHD2	chr17:43487583-43488381	GM12878	blood:	n/a	chr17:43488195-43488205
11	CTCF	chr17:43490940-43491090	GM12878	blood:	n/a	n/a
12	CTCF	chr17:43489104-43489190	GM12892	blood:	n/a	n/a
13	CTCF	chr17:43486500-43486650	HEEpiC	esophagus:	n/a	chr17:43486583-43486592
14	CTCF	chr17:43487486-43487492	GM19239	blood:	n/a	n/a
15	CTCF	chr17:43489100-43489250	GM12871	blood:	n/a	n/a
16	CTCF	chr17:43488389-43488430	GM19239	blood:	n/a	n/a
17	CTCF	chr17:43486560-43486710	NHEK	skin:	n/a	chr17:43486583-43486592
18	CTCF	chr17:43488300-43488450	GM12867	blood:	n/a	n/a
19	CTCF	chr17:43487288-43487424	GM19240	blood:	n/a	chr17:43487396-43487414 chr17:43487396-43487409 chr17:43487339-43487349
20	CTCF	chr17:43486520-43486670	K562	blood:	n/a	chr17:43486583-43486592
21	CTCF	chr17:43487601-43487632	GM19239	blood:	n/a	chr17:43487620-43487630
22	CTCF	chr17:43487271-43487421	GM19238	blood:	n/a	chr17:43487396-43487414 chr17:43487396-43487409 chr17:43487339-43487349
23	CTCF	chr17:43488060-43488210	GM12873	blood:	n/a	n/a
24	CTCF	chr17:43486840-43486990	GM12866	blood:	n/a	n/a
25	CTCF	chr17:43486640-43486790	GM12864	blood:	n/a	chr17:43486724-43486732
26	CTCF	chr17:43487372-43487425	GM12878	blood:	n/a	chr17:43487396-43487414 chr17:43487396-43487409
27	CTCF	chr17:43486500-43486650	GM12873	blood:	n/a	chr17:43486583-43486592
28	CTCF	chr17:43487298-43487485	GM19239	blood:	n/a	chr17:43487396-43487414 chr17:43487396-43487409 chr17:43487339-43487349
29	CTCF	chr17:43487240-43487390	GM12874	blood:	n/a	chr17:43487339-43487349
30	CTCF	chr17:43486820-43486970	GM12873	blood:	n/a	n/a
31	CTCF	chr17:43486352-43486382	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr17:43486440-43486590	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr17:43486840-43486990	GM12869	blood:	n/a	n/a
34	CTCF	chr17:43488000-43488150	GM12871	blood:	n/a	n/a
35	CTCF	chr17:43487120-43487270	GM12871	blood:	n/a	n/a
36	CTCF	chr17:43486560-43486710	HepG2	liver:	n/a	chr17:43486583-43486592
37	CTCF	chr17:43488105-43488111	GM12891	blood:	n/a	n/a
38	CTCF	chr17:43488016-43488091	GM12891	blood:	n/a	n/a
39	CTCF	chr17:43487982-43488114	GM19238	blood:	n/a	n/a
40	CTCF	chr17:43487900-43488050	GM12873	blood:	n/a	n/a
41	CTCF	chr17:43488022-43488081	GM19240	blood:	n/a	n/a
42	CTCF	chr17:43486540-43486690	BJ	skin:	n/a	chr17:43486583-43486592
43	CTCF	chr17:43486540-43486690	HBMEC	blood vessel:	n/a	chr17:43486583-43486592
44	CTCF	chr17:43488000-43488150	GM12864	blood:	n/a	n/a
45	CTCF	chr17:43487317-43487441	GM12891	blood:	n/a	chr17:43487396-43487414 chr17:43487396-43487409 chr17:43487339-43487349
46	CTCF	chr17:43486960-43487110	GM12872	blood:	n/a	n/a
47	CTCF	chr17:43487080-43487230	GM12867	blood:	n/a	n/a
48	CTCF	chr17:43487400-43487550	GM12867	blood:	n/a	n/a
49	CTCF	chr17:43487986-43488072	GM19239	blood:	n/a	n/a
50	CTCF	chr17:43487200-43487350	GM12873	blood:	n/a	chr17:43487339-43487349

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:43488551-43488601	IMR90	lung:	fetal
2	chr17:43488551-43488601	NB4	blood:	n/a
3	chr17:43488551-43488601	HPAEpiC	pulmonary alveolar:	n/a
4	chr17:43488551-43488601	HCM	heart:	n/a
5	chr17:43488551-43488601	CMK	blood:	n/a
6	chr17:43488551-43488601	GM19239	blood:	n/a
7	chr17:43488551-43488601	K562	blood:	n/a
8	chr17:43488551-43488601	NT2-D1	testis:	n/a
9	chr17:43488551-43488601	AG04450	lung:	fetal
10	chr17:43488551-43488601	A549	lung:	n/a
11	chr17:43488551-43488601	AG04449	skin:	fetal
12	chr17:43488551-43488601	Hela-S3	cervix:	n/a
13	chr17:43488551-43488601	PrEC	prostate:	n/a
14	chr17:43488551-43488601	HRPEpiC	eye:	n/a
15	chr17:43488551-43488601	PFSK-1	brain:	n/a
16	chr17:43488551-43488601	MCF10A-Er-Src	breast:	n/a
17	chr17:43488551-43488601	SKMC	muscle:	n/a
18	chr17:43488551-43488601	BE2_C	brain:	n/a
19	chr17:43488551-43488601	T-47D	breast:	n/a
20	chr17:43488551-43488601	HAEpiC	amniotic membrane:	n/a
21	chr17:43488551-43488601	NHBE	bronchial:	n/a
22	chr17:43488551-43488601	BJ	skin:	n/a
23	chr17:43488551-43488601	ovcar-3	ovarian:	n/a
24	chr17:43488551-43488601	HCF	heart:	n/a
25	chr17:43488551-43488601	SAEC	small airway:	n/a
26	chr17:43488551-43488601	GM12892	blood:	n/a
27	chr17:43488551-43488601	SK-N-MC	brain:	n/a
28	chr17:43488551-43488601	LNCaP	prostate:	n/a
29	chr17:43488551-43488601	MCF-7	breast:	n/a
30	chr17:43488551-43488601	HCT-116	colon:	n/a
31	chr17:43488551-43488601	NH-A	brain:	n/a
32	chr17:43488551-43488601	SK-N-SH	brain:	n/a
33	chr17:43488551-43488601	NHDF-neo	bronchial:	n/a
34	chr17:43488551-43488601	ECC-1	luminal epithelium:	n/a
35	chr17:43488551-43488601	HCPEpiC	choroid plexus:	n/a
36	chr17:43488551-43488601	GM06990	blood:	n/a
37	chr17:43488551-43488601	HIPEpiC	eye:	n/a
38	chr17:43488551-43488601	HL-60	blood:	n/a
39	chr17:43488551-43488601	GM12878	blood:	n/a
40	chr17:43488551-43488601	HRE	kidney:	n/a
41	chr17:43488551-43488601	HepG2	liver:	n/a
42	chr17:43488551-43488601	RPTEC	kidney:	n/a
43	chr17:43488551-43488601	Caco-2	colon:	n/a
44	chr17:43488551-43488601	GM12891	blood:	n/a
45	chr17:43488551-43488601	U87	brain:	n/a
46	chr17:43488551-43488601	Hepatocyte	liver:	n/a
47	chr17:43488551-43488601	Jurkat	blood:	n/a
48	chr17:43488551-43488601	AG09309	skin:	n/a
49	chr17:43488551-43488601	HEK293	kidney:	embryo
50	chr17:43488551-43488601	HNPCEpiC	eye:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:43495851..43498842-chr17:43501436..43503163,2	MCF-7	breast:
2	chr17:43483204..43486060-chr17:43488039..43490567,2	K562	blood:
3	chr17:43495646..43497991-chr17:43500859..43504115,3	MCF-7	breast:
4	chr17:43392966..43395410-chr17:43486482..43488209,2	K562	blood:
5	chr17:43224547..43227139-chr17:43483437..43486269,3	K562	blood:
6	chr17:43325186..43327943-chr17:43489986..43492557,2	MCF-7	breast:
7	chr17:43482138..43486060-chr17:43487634..43490567,4	K562	blood:
8	chr17:43487372..43488970-chr17:43502341..43504039,2	MCF-7	breast:
9	chr17:43482138..43486060-chr17:43487634..43490567,4	K562	blood:
10	chr17:43491389..43493065-chr17:43507690..43509408,2	MCF-7	breast:
11	chr17:43485959..43488824-chr17:43511157..43513900,2	K562	blood:
12	chr17:43485567..43488047-chr17:43501616..43504138,2	MCF-7	breast:
13	chr17:43473624..43476541-chr17:43485121..43487805,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLEKHM1-2	chr17:43484899-43487751	NONHSAT054116

No data

Variant related genes	Relation type
ENSG00000264038	TF binding region
ARHGAP27	TF binding region
ENSG00000264038	CpG island
ARHGAP27	CpG island
ENSG00000186834	chromatin interactions
ENSG00000159314	chromatin interactions
ENSG00000267278	chromatin interactions
ENSG00000006062	chromatin interactions
ENSG00000267344	chromatin interactions
ENSG00000233483	chromatin interactions

Extended variants
information (count: 388 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1230103	chr17:43485791-43485792	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187120950	chr17:43485837-43485838	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs145908284	chr17:43485854-43485855	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs563655590	chr17:43485881-43485882	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs191807535	chr17:43485916-43485917	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs552530931	chr17:43485925-43485926	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs570735087	chr17:43485961-43485962	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs569960979	chr17:43485998-43485999	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs546762934	chr17:43486030-43486031	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs568071001	chr17:43486031-43486032	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs183620155	chr17:43486109-43486110	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs556704490	chr17:43486143-43486144	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs374022352	chr17:43486174-43486175	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs1230104	chr17:43486189-43486190	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539032061	chr17:43486198-43486199	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs138388760	chr17:43486288-43486289	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs577120100	chr17:43486289-43486290	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs141050279	chr17:43486301-43486302	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs112601275	chr17:43486327-43486328	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs113802115	chr17:43486375-43486376	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs553494587	chr17:43486396-43486397	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs189267210	chr17:43486408-43486409	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs539691340	chr17:43486496-43486497	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs542271742	chr17:43486527-43486528	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs150207168	chr17:43486557-43486558	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs375559074	chr17:43486561-43486562	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs530954550	chr17:43486600-43486601	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs546214788	chr17:43486635-43486636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs7223005	chr17:43486662-43486663	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs193222486	chr17:43486672-43486673	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs138803414	chr17:43486690-43486691	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs568217648	chr17:43486711-43486712	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs372297112	chr17:43486782-43486783	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs550686089	chr17:43486921-43486922	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs568591670	chr17:43486937-43486938	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs376835318	chr17:43487032-43487033	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs138316066	chr17:43487038-43487039	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs557324089	chr17:43487057-43487058	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs570821605	chr17:43487092-43487093	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs552645697	chr17:43487108-43487109	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs143696429	chr17:43487121-43487122	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs553315745	chr17:43487134-43487135	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs113412063	chr17:43487141-43487142	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs575009327	chr17:43487161-43487162	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs542032687	chr17:43487171-43487172	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs557534903	chr17:43487172-43487173	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs575797347	chr17:43487174-43487175	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs546227451	chr17:43487181-43487182	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs36078910	chr17:43487217-43487218	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs553492619	chr17:43487233-43487234	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	19156837	CNVD
Williams-beuren syndrome	18553513	CNVD
Mental retardation	17847001	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22817714	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:43472800-43487400	Weak transcription	HUVEC	blood vessel
2	chr17:43475800-43490400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:43479400-43489600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:43482200-43486400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr17:43482200-43486800	Weak transcription	Liver	Liver
6	chr17:43482200-43487200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr17:43482400-43486400	Weak transcription	Brain Anterior Caudate	brain
8	chr17:43482400-43486600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr17:43482400-43486600	Weak transcription	NHEK	skin
10	chr17:43482400-43487000	Weak transcription	Pancreas	Pancrea
11	chr17:43482400-43501600	Weak transcription	HMEC	breast
12	chr17:43482600-43486600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:43482800-43486200	Weak transcription	K562	blood
14	chr17:43483200-43496000	Weak transcription	Hela-S3	cervix
15	chr17:43483400-43485800	Weak transcription	Esophagus	oesophagus
16	chr17:43483400-43486200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:43483400-43486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:43483400-43487000	Weak transcription	Colon Smooth Muscle	Colon
19	chr17:43483400-43487200	Enhancers	Stomach Mucosa	stomach
20	chr17:43483400-43488800	Weak transcription	Psoas Muscle	Psoas
21	chr17:43483600-43485800	Weak transcription	Brain Substantia Nigra	brain
22	chr17:43483800-43485800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr17:43483800-43485800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr17:43483800-43486000	Weak transcription	Gastric	stomach
25	chr17:43483800-43487600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr17:43483800-43488800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr17:43484000-43485800	Enhancers	Spleen	Spleen
28	chr17:43484000-43487400	Genic enhancers	Fetal Intestine Small	intestine
29	chr17:43484200-43485800	Enhancers	Duodenum Mucosa	Duodenum
30	chr17:43484200-43492400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr17:43484400-43485800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:43484400-43485800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr17:43484400-43485800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr17:43484400-43488000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr17:43484400-43488600	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr17:43484400-43502600	Weak transcription	Fetal Lung	lung
37	chr17:43484600-43486000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:43484600-43486200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr17:43484600-43486400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:43484600-43486800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:43484600-43487200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr17:43484600-43487600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:43484600-43502200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr17:43484800-43485800	Weak transcription	Lung	lung
45	chr17:43484800-43486000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:43484800-43486000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr17:43484800-43486000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:43484800-43486000	Weak transcription	Right Atrium	heart
49	chr17:43484800-43486200	Enhancers	HepG2	liver
50	chr17:43484800-43486600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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