Variant report

Variant	esv1007307
Chromosome Location	chr17:46638901-46653131
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:436)
CpG islands
(count:1955)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:46652713-46652816	K562	blood:	n/a	n/a
2	BACH1	chr17:46653085-46653292	K562	blood:	n/a	n/a
3	BCL11A	chr17:46639366-46639567	GM12878	blood:	n/a	n/a
4	BHLHE40	chr17:46647753-46647764	K562	blood:	n/a	n/a
5	BRCA1	chr17:46647588-46647746	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr17:46640984-46641305	IMR90	lung:	n/a	chr17:46641158-46641171
7	CEBPB	chr17:46649612-46649900	IMR90	lung:	n/a	n/a
8	CEBPB	chr17:46641094-46641196	K562	blood:	n/a	chr17:46641158-46641171
9	CEBPB	chr17:46649651-46649891	K562	blood:	n/a	n/a
10	CHD1	chr17:46641810-46654030	IMR90	lung:	n/a	n/a
11	CHD2	chr17:46639286-46639893	GM12878	blood:	n/a	n/a
12	CHD2	chr17:46647659-46648093	K562	blood:	n/a	n/a
13	CHD2	chr17:46648577-46648638	K562	blood:	n/a	n/a
14	CTBP2	chr17:46647522-46648149	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr17:46648505-46648951	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr17:46644702-46645561	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTBP2	chr17:46651597-46651854	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr17:46641850-46642305	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr17:46639940-46640090	AG04450	lung:	n/a	n/a
20	CTCF	chr17:46639660-46639810	HEK293	kidney:	n/a	n/a
21	CTCF	chr17:46647120-46647270	HRE	kidney:	n/a	n/a
22	CTCF	chr17:46639620-46639770	A549	lung:	n/a	n/a
23	CTCF	chr17:46639576-46639852	K562	blood:	n/a	n/a
24	CTCF	chr17:46639660-46639810	GM12867	blood:	n/a	n/a
25	CTCF	chr17:46639634-46639816	MCF-7	breast:	n/a	n/a
26	CTCF	chr17:46639680-46639830	GM12868	blood:	n/a	n/a
27	CTCF	chr17:46639620-46639770	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr17:46640880-46641030	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr17:46639620-46639770	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr17:46639660-46639810	GM12864	blood:	n/a	n/a
31	CTCF	chr17:46639540-46639770	GM06990	blood:	n/a	n/a
32	CTCF	chr17:46639640-46639790	GM12874	blood:	n/a	n/a
33	CTCF	chr17:46639640-46639790	HA-sp	spinal cord:	n/a	n/a
34	CTCF	chr17:46639680-46639830	GM12874	blood:	n/a	n/a
35	CTCF	chr17:46639680-46639830	GM12873	blood:	n/a	n/a
36	CTCF	chr17:46639660-46639810	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr17:46639600-46639750	HAc	cerebellar:	n/a	n/a
38	CTCF	chr17:46639240-46639390	HCT-116	colon:	n/a	n/a
39	CTCF	chr17:46639600-46639750	GM12875	blood:	n/a	n/a
40	CTCF	chr17:46639580-46639730	AG09319	gingival:	n/a	n/a
41	CTCF	chr17:46639640-46639790	GM12866	blood:	n/a	n/a
42	CTCF	chr17:46647120-46647270	AG04449	skin:	n/a	n/a
43	CTCF	chr17:46639680-46639830	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr17:46639620-46639770	GM12870	blood:	n/a	n/a
45	CTCF	chr17:46639660-46639810	WI-38	lung:	n/a	n/a
46	CTCF	chr17:46647100-46647250	NHLF	lung:	n/a	n/a
47	CTCF	chr17:46639320-46639470	AG04449	skin:	n/a	n/a
48	CTCF	chr17:46639620-46639770	BE2_C	brain:	n/a	n/a
49	CTCF	chr17:46639660-46639810	GM12872	blood:	n/a	n/a
50	CTCF	chr17:46647140-46647290	HPF	lung:	n/a	n/a

(count:1955 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:46648533-46648583	H1-hESC	embryonic stem cell:	embryo
2	chr17:46641708-46641758	HIPEpiC	eye:	n/a
3	chr17:46652399-46652449	HRE	kidney:	n/a
4	chr17:46648533-46648583	H1-hESC	embryonic stem cell:	embryo
5	chr17:46641708-46641758	HIPEpiC	eye:	n/a
6	chr17:46652399-46652449	HRE	kidney:	n/a
7	chr17:46651360-46651410	NH-A	brain:	n/a
8	chr17:46651867-46651917	LNCaP	prostate:	n/a
9	chr17:46643351-46643401	Hepatocyte	liver:	n/a
10	chr17:46648533-46648583	GM12891	blood:	n/a
11	chr17:46640774-46640824	HCF	heart:	n/a
12	chr17:46651952-46652002	HRE	kidney:	n/a
13	chr17:46646359-46646409	BJ	skin:	n/a
14	chr17:46652501-46652551	PrEC	prostate:	n/a
15	chr17:46651186-46651236	ovcar-3	ovarian:	n/a
16	chr17:46642104-46642154	Hepatocyte	liver:	n/a
17	chr17:46643351-46643401	GM12891	blood:	n/a
18	chr17:46640347-46640397	HEK293	kidney:	embryo
19	chr17:46646359-46646409	NB4	blood:	n/a
20	chr17:46651186-46651236	Caco-2	colon:	n/a
21	chr17:46648582-46648632	HUVEC	blood vessel:	n/a
22	chr17:46652501-46652551	SK-N-SH	brain:	n/a
23	chr17:46646043-46646093	IMR90	lung:	fetal
24	chr17:46648525-46648575	GM19239	blood:	n/a
25	chr17:46652938-46652988	Hela-S3	cervix:	n/a
26	chr17:46652399-46652449	HRPEpiC	eye:	n/a
27	chr17:46641504-46641554	PANC-1	pancreas:	n/a
28	chr17:46641863-46641913	HUVEC	blood vessel:	n/a
29	chr17:46652501-46652551	IMR90	lung:	fetal
30	chr17:46650310-46650360	HPAEpiC	pulmonary alveolar:	n/a
31	chr17:46651722-46651772	Hela-S3	cervix:	n/a
32	chr17:46644175-46644225	Jurkat	blood:	n/a
33	chr17:46648582-46648632	IMR90	lung:	fetal
34	chr17:46643351-46643401	HCM	heart:	n/a
35	chr17:46640347-46640397	HEEpiC	esophagus:	n/a
36	chr17:46652501-46652551	HIPEpiC	eye:	n/a
37	chr17:46648582-46648632	SK-N-SH_RA	brain:	n/a
38	chr17:46652179-46652229	HRE	kidney:	n/a
39	chr17:46641504-46641554	HCPEpiC	choroid plexus:	n/a
40	chr17:46651225-46651275	Hepatocyte	liver:	n/a
41	chr17:46648014-46648064	HRPEpiC	eye:	n/a
42	chr17:46651945-46651995	GM12878	blood:	n/a
43	chr17:46651952-46652002	HEK293	kidney:	embryo
44	chr17:46651945-46651995	ECC-1	luminal epithelium:	n/a
45	chr17:46646359-46646409	HepG2	liver:	n/a
46	chr17:46651822-46651872	HNPCEpiC	eye:	n/a
47	chr17:46651920-46651970	ovcar-3	ovarian:	n/a
48	chr17:46651722-46651772	NB4	blood:	n/a
49	chr17:46651867-46651917	AG09309	skin:	n/a
50	chr17:46643351-46643401	T-47D	breast:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46652243..46654179-chr17:46657727..46659805,2	MCF-7	breast:
2	chr17:46618670..46620938-chr17:46642193..46644005,2	MCF-7	breast:
3	chr17:46629536..46631319-chr17:46636769..46639268,2	MCF-7	breast:
4	chr17:46639764..46641981-chr17:46663009..46664957,2	MCF-7	breast:
5	chr17:46648452..46650597-chr17:46655694..46657382,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HOXB4-2	chr17:46652405-46652912	NONHSAT054413
2	lnc-HOXB4-2	chr17:46651290-46651376	NONHSAT054413
3	lnc-HOXB4-2	chr17:46651344-46651376	NONHSAT054414

No data

Variant related genes	Relation type
HOXB3	TF binding region
HOXB3	CpG island
ENSG00000230148	chromatin interactions
ENSG00000257178	chromatin interactions
ENSG00000173917	chromatin interactions
ENSG00000120093	chromatin interactions

Extended variants
information (count: 454 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147875051	chr17:46638923-46638924	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs533000994	chr17:46638955-46638956	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546890173	chr17:46638961-46638962	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs560702517	chr17:46638982-46638983	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141466368	chr17:46639114-46639115	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553072284	chr17:46639264-46639265	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550524099	chr17:46639331-46639332	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs111247850	chr17:46639355-46639356	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs569556900	chr17:46639382-46639383	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs184871984	chr17:46639400-46639401	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs370942693	chr17:46639409-46639410	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs556966257	chr17:46639452-46639453	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs551751307	chr17:46639512-46639513	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs147005375	chr17:46639546-46639547	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs187715752	chr17:46639668-46639669	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552911156	chr17:46639689-46639690	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs733920	chr17:46639703-46639704	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs76687561	chr17:46639716-46639717	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555280283	chr17:46639734-46639735	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575180692	chr17:46639797-46639798	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557620989	chr17:46639805-46639806	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543809811	chr17:46639838-46639839	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551763046	chr17:46639839-46639840	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141721721	chr17:46639840-46639841	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577683262	chr17:46639872-46639873	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540295684	chr17:46639873-46639874	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559970615	chr17:46639881-46639882	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35533427	chr17:46639923-46639924	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567186400	chr17:46639927-46639928	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75029752	chr17:46639936-46639937	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80126781	chr17:46639949-46639950	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79150521	chr17:46639950-46639951	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150115801	chr17:46639957-46639958	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138422565	chr17:46639962-46639963	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149268992	chr17:46639969-46639970	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146196626	chr17:46640001-46640002	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191148790	chr17:46640068-46640069	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62066695	chr17:46640077-46640078	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547902820	chr17:46640118-46640119	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567642435	chr17:46640124-46640125	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535314347	chr17:46640136-46640137	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184783206	chr17:46640137-46640138	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575183972	chr17:46640148-46640149	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139072913	chr17:46640175-46640176	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142283908	chr17:46640176-46640177	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189151689	chr17:46640218-46640219	Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74707393	chr17:46640283-46640284	Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7503053	chr17:46640290-46640291	Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs573608016	chr17:46640341-46640342	Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543251269	chr17:46640344-46640345	Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	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
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
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
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46633400-46641000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr17:46634800-46639000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr17:46635000-46639400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:46635000-46654600	Weak transcription	Hela-S3	cervix
5	chr17:46636200-46639800	Genic enhancers	Fetal Stomach	stomach
6	chr17:46636200-46640600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
7	chr17:46636400-46639600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:46636400-46639800	Enhancers	A549	lung
9	chr17:46636400-46640600	Enhancers	Adipose Nuclei	Adipose
10	chr17:46636400-46641000	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr17:46636600-46641000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr17:46636800-46640000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:46636800-46641200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:46637200-46639800	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr17:46637400-46639200	Enhancers	Rectal Smooth Muscle	rectum
16	chr17:46637400-46639400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:46637400-46641400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr17:46637600-46639000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:46637600-46639000	Weak transcription	Spleen	Spleen
20	chr17:46637600-46639200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:46637600-46640200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:46637600-46640200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:46637600-46640400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:46637800-46641400	Weak transcription	Aorta	Aorta
25	chr17:46638000-46639000	Genic enhancers	Fetal Kidney	kidney
26	chr17:46638000-46643800	Enhancers	Primary hematopoietic stem cells	blood
27	chr17:46638200-46639000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr17:46638200-46639400	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr17:46638200-46639600	Weak transcription	Esophagus	oesophagus
30	chr17:46638200-46640000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr17:46638400-46639000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:46638400-46639000	Enhancers	Colon Smooth Muscle	Colon
33	chr17:46638400-46639600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr17:46638400-46640800	Enhancers	Colonic Mucosa	Colon
35	chr17:46638600-46639000	Bivalent Enhancer	NH-A	brain
36	chr17:46638600-46639200	Enhancers	Fetal Thymus	thymus
37	chr17:46638600-46639200	Enhancers	HSMMtube	muscle
38	chr17:46638600-46639800	Strong transcription	K562	blood
39	chr17:46638600-46640000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:46638600-46640000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr17:46638600-46641000	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr17:46638600-46641000	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr17:46638600-46641600	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr17:46638800-46639000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:46638800-46639200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:46638800-46639200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:46638800-46639400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:46638800-46639400	Enhancers	Primary T cells from cord blood	blood
49	chr17:46638800-46639400	Enhancers	HUVEC	blood vessel
50	chr17:46638800-46639600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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