Variant report

Variant	esv3373243
Chromosome Location	chr15:83875373-83878121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:473)
CpG islands
(count:611)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr15:83876812-83877431	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr15:83876967-83877320	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr15:83876003-83876159	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr15:83876676-83877310	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr15:83876930-83877521	A549	lung:	n/a	n/a
6	BHLHE40	chr15:83876898-83876902	K562	blood:	n/a	n/a
7	CCNT2	chr15:83875600-83877137	K562	blood:	n/a	chr15:83876377-83876386
8	CEBPB	chr15:83876925-83877011	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr15:83875838-83876319	GM12878	blood:	n/a	chr15:83876305-83876315
10	CHD1	chr15:83876802-83877151	H1-hESC	embryonic stem cell:	n/a	chr15:83877047-83877054 chr15:83877074-83877084
11	CHD1	chr15:83876727-83877278	GM12878	blood:	n/a	chr15:83877047-83877054 chr15:83877074-83877084
12	CHD1	chr15:83874903-83876282	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr15:83875643-83875651	K562	blood:	n/a	n/a
14	CHD2	chr15:83875431-83876004	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr15:83876218-83877093	Hela-S3	cervix:	n/a	chr15:83877047-83877054 chr15:83876305-83876315 chr15:83877074-83877084
16	CHD2	chr15:83876907-83877161	GM12878	blood:	n/a	chr15:83877047-83877054 chr15:83877074-83877084
17	CHD2	chr15:83876956-83877249	H1-hESC	embryonic stem cell:	n/a	chr15:83877047-83877054 chr15:83877074-83877084
18	CHD2	chr15:83876584-83876890	K562	blood:	n/a	n/a
19	CREB1	chr15:83875611-83877315	A549	lung:	n/a	n/a
20	CTBP2	chr15:83876718-83877235	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr15:83877060-83877210	HAc	cerebellar:	n/a	n/a
22	CTCF	chr15:83877024-83877212	Medullo	brain:	n/a	n/a
23	CTCF	chr15:83877060-83877210	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr15:83876891-83877180	K562	blood:	n/a	n/a
25	CTCF	chr15:83877160-83877310	HVMF	connective:	n/a	n/a
26	CTCF	chr15:83877220-83877370	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr15:83877000-83877150	GM12868	blood:	n/a	n/a
28	CTCF	chr15:83877060-83877210	GM12878	blood:	n/a	n/a
29	CTCF	chr15:83876980-83877130	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr15:83876147-83876283	GM12891	blood:	n/a	chr15:83876220-83876233
31	CTCF	chr15:83877064-83877130	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chr15:83876924-83877284	K562	blood:	n/a	n/a
33	CTCF	chr15:83877080-83877230	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr15:83876985-83877177	MCF-7	breast:	n/a	n/a
35	CTCF	chr15:83876238-83876255	LNCaP	prostate:	n/a	n/a
36	CTCF	chr15:83876160-83876279	GM19240	blood:	n/a	chr15:83876220-83876233
37	CTCF	chr15:83876999-83877163	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr15:83876080-83876230	GM12865	blood:	n/a	n/a
39	CTCF	chr15:83877060-83877210	SAEC	small airway:	n/a	n/a
40	CTCF	chr15:83876220-83876370	GM12871	blood:	n/a	chr15:83876220-83876233
41	CTCF	chr15:83877080-83877230	GM12864	blood:	n/a	n/a
42	CTCF	chr15:83877160-83877310	AG04450	lung:	n/a	n/a
43	CTCF	chr15:83876420-83876570	GM12865	blood:	n/a	n/a
44	CTCF	chr15:83876980-83877130	AG04449	skin:	n/a	n/a
45	CTCF	chr15:83877040-83877190	GM12871	blood:	n/a	n/a
46	CTCF	chr15:83877011-83877184	LNCaP	prostate:	n/a	n/a
47	CTCF	chr15:83877120-83877270	A549	lung:	n/a	n/a
48	CTCF	chr15:83876962-83877210	GM12891	blood:	n/a	n/a
49	CTCF	chr15:83876970-83877206	GM19240	blood:	n/a	n/a
50	CTCF	chr15:83876470-83876521	GM19240	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83876554-83876604	SAEC	small airway:	n/a
2	chr15:83876554-83876604	SAEC	small airway:	n/a
3	chr15:83876730-83876780	Hela-S3	cervix:	n/a
4	chr15:83877109-83877159	HNPCEpiC	eye:	n/a
5	chr15:83876612-83876662	IMR90	lung:	fetal
6	chr15:83877070-83877120	HAEpiC	amniotic membrane:	n/a
7	chr15:83876730-83876780	HRE	kidney:	n/a
8	chr15:83877070-83877120	PANC-1	pancreas:	n/a
9	chr15:83875649-83875699	MCF-7	breast:	n/a
10	chr15:83877109-83877159	MCF10A-Er-Src	breast:	n/a
11	chr15:83877070-83877120	NH-A	brain:	n/a
12	chr15:83877109-83877159	BJ	skin:	n/a
13	chr15:83875649-83875699	AG09309	skin:	n/a
14	chr15:83876612-83876662	HCM	heart:	n/a
15	chr15:83876554-83876604	HEK293	kidney:	embryo
16	chr15:83876098-83876148	PFSK-1	brain:	n/a
17	chr15:83876554-83876604	HRCEpiC	kidney:	n/a
18	chr15:83876554-83876604	U87	brain:	n/a
19	chr15:83875703-83875753	AG04449	skin:	fetal
20	chr15:83875537-83875587	ECC-1	luminal epithelium:	n/a
21	chr15:83876554-83876604	HCPEpiC	choroid plexus:	n/a
22	chr15:83875703-83875753	AG09309	skin:	n/a
23	chr15:83875649-83875699	NHBE	bronchial:	n/a
24	chr15:83876098-83876148	HCT-116	colon:	n/a
25	chr15:83876554-83876604	PrEC	prostate:	n/a
26	chr15:83877070-83877120	MCF10A-Er-Src	breast:	n/a
27	chr15:83877070-83877120	HEEpiC	esophagus:	n/a
28	chr15:83877135-83877185	Jurkat	blood:	n/a
29	chr15:83875649-83875699	GM12891	blood:	n/a
30	chr15:83877070-83877120	GM06990	blood:	n/a
31	chr15:83877070-83877120	MCF-7	breast:	n/a
32	chr15:83875649-83875699	GM06990	blood:	n/a
33	chr15:83876612-83876662	BJ	skin:	n/a
34	chr15:83877135-83877185	GM06990	blood:	n/a
35	chr15:83876612-83876662	HMEC	breast:	n/a
36	chr15:83875703-83875753	Jurkat	blood:	n/a
37	chr15:83876730-83876780	Jurkat	blood:	n/a
38	chr15:83876554-83876604	HAEpiC	amniotic membrane:	n/a
39	chr15:83877070-83877120	Caco-2	colon:	n/a
40	chr15:83877109-83877159	Caco-2	colon:	n/a
41	chr15:83875649-83875699	HRPEpiC	eye:	n/a
42	chr15:83876554-83876604	BJ	skin:	n/a
43	chr15:83876098-83876148	SK-N-SH	brain:	n/a
44	chr15:83876612-83876662	SAEC	small airway:	n/a
45	chr15:83875649-83875699	HUVEC	blood vessel:	n/a
46	chr15:83877109-83877159	SK-N-MC	brain:	n/a
47	chr15:83875537-83875587	GM12878	blood:	n/a
48	chr15:83875649-83875699	RPTEC	kidney:	n/a
49	chr15:83875537-83875587	HCM	heart:	n/a
50	chr15:83876612-83876662	MCF10A-Er-Src	breast:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83680783..83683197-chr15:83876059..83879037,3	K562	blood:
2	chr15:83706535..83711494-chr15:83875161..83878411,4	MCF-7	breast:
3	chr15:83825858..83828355-chr15:83876251..83878131,2	MCF-7	breast:
4	chr15:83874825..83876698-chr15:84113780..84116489,2	MCF-7	breast:
5	chr15:83876782..83879071-chr15:84050776..84053282,2	MCF-7	breast:
6	chr15:83733314..83737988-chr15:83872344..83875458,5	K562	blood:
7	chr15:83878009..83879789-chr15:83915705..83918184,3	MCF-7	breast:
8	chr15:83652926..83655970-chr15:83874776..83878125,3	MCF-7	breast:
9	chr15:83877096..83880148-chr15:83900858..83903461,3	MCF-7	breast:
10	chr15:83875339..83878212-chr17:65989153..65990840,2	MCF-7	breast:
11	chr15:83826728..83828298-chr15:83873729..83876383,2	MCF-7	breast:
12	chr15:83678260..83683197-chr15:83874959..83878158,5	K562	blood:
13	chr15:83797822..83799422-chr15:83873732..83875902,2	K562	blood:
14	chr15:83847714..83850048-chr15:83876536..83879465,3	MCF-7	breast:
15	chr1:192995946..192996514-chr15:83878116..83878651,2	MCF-7	breast:
16	chr15:83476923..83480237-chr15:83875108..83878990,4	MCF-7	breast:
17	chr15:83795078..83799216-chr15:83876236..83878812,3	MCF-7	breast:
18	chr15:83733142..83737236-chr15:83872525..83879828,15	MCF-7	breast:
19	chr15:83876872..83879211-chr15:83879767..83882813,3	K562	blood:
20	chr15:83875778..83876772-chr5:180673118..180673928,2	Hela-S3	cervix:
21	chr15:83733297..83738085-chr15:83874642..83880991,12	MCF-7	breast:
22	chr15:83678614..83685168-chr15:83874398..83879059,12	MCF-7	breast:
23	chr15:83834964..83840588-chr15:83874121..83878306,6	MCF-7	breast:
24	chr15:83734393..83737227-chr15:83876568..83879136,2	K562	blood:
25	chr15:83678154..83684518-chr15:83871554..83879371,12	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TM6SF1-2	chr15:83876655-83877033	ENSG00000245208

No data

Variant related genes	Relation type
ENSG00000166503	TF binding region
ENSG00000166503	CpG island
ENSG00000263643	chromatin interactions
ENSG00000166503	chromatin interactions
ENSG00000169612	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000249214	chromatin interactions
ENSG00000136404	chromatin interactions
ENSG00000169609	chromatin interactions
ENSG00000186665	chromatin interactions
ENSG00000259986	chromatin interactions
ENSG00000260608	chromatin interactions
ENSG00000064726	chromatin interactions
ENSG00000156232	chromatin interactions
ENSG00000140600	chromatin interactions
ENSG00000103942	chromatin interactions
HCCS	miRNA target sites

Extended variants
information (count: 91 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539076474	chr15:83875437-83875438	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs557721944	chr15:83875455-83875456	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs376098720	chr15:83875496-83875497	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs575917158	chr15:83875513-83875514	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs7495911	chr15:83875557-83875558	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs181802549	chr15:83875578-83875579	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs565092917	chr15:83875582-83875583	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs556673849	chr15:83875596-83875597	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs527876310	chr15:83875653-83875654	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs28734025	chr15:83875704-83875705	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs561586263	chr15:83875747-83875748	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs541269310	chr15:83875764-83875765	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs560634608	chr15:83875796-83875797	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs529825426	chr15:83875809-83875810	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs549475753	chr15:83875811-83875812	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs569641399	chr15:83875816-83875817	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs573920084	chr15:83875822-83875823	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs532259079	chr15:83875853-83875854	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs372712610	chr15:83875861-83875862	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs552496269	chr15:83875905-83875906	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs566017554	chr15:83875922-83875923	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs534791340	chr15:83875924-83875925	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs548430300	chr15:83875931-83875932	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs567623966	chr15:83875935-83875936	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs536768396	chr15:83875992-83875993	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs556246060	chr15:83876036-83876037	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs200709239	chr15:83876055-83876056	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs538705692	chr15:83876059-83876060	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs558816575	chr15:83876066-83876067	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs369796426	chr15:83876074-83876075	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs373037286	chr15:83876187-83876188	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs541205852	chr15:83876190-83876191	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs377567414	chr15:83876205-83876206	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs561159915	chr15:83876222-83876223	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs574408787	chr15:83876223-83876224	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs543506432	chr15:83876238-83876239	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs563285191	chr15:83876250-83876251	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs532122041	chr15:83876261-83876262	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs552234091	chr15:83876301-83876302	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs559662520	chr15:83876405-83876406	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs564306913	chr15:83876434-83876435	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs185158763	chr15:83876465-83876466	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs528415852	chr15:83876553-83876554	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs190639253	chr15:83876563-83876564	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs375055533	chr15:83876621-83876622	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs536304733	chr15:83876624-83876625	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs563515313	chr15:83876628-83876629	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs369123558	chr15:83876636-83876637	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs541222983	chr15:83876755-83876756	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
50	rs570091150	chr15:83876945-83876946	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD

Chromatin state (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83870600-83875400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:83872000-83877200	Active TSS	GM12878-XiMat	blood
3	chr15:83873400-83875400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:83873400-83877600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:83873600-83877000	Active TSS	Stomach Smooth Muscle	stomach
6	chr15:83873800-83875400	Weak transcription	Pancreas	Pancrea
7	chr15:83874000-83877200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr15:83874000-83877400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:83874200-83875400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:83874200-83875400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr15:83874200-83875600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:83874200-83877200	Active TSS	Aorta	Aorta
13	chr15:83874200-83877400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr15:83874400-83875400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr15:83874400-83875400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr15:83874400-83875400	Flanking Active TSS	NHEK	skin
17	chr15:83874400-83875400	Flanking Active TSS	Osteobl	bone
18	chr15:83874400-83875600	Active TSS	Brain Germinal Matrix	brain
19	chr15:83874400-83875800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:83874400-83877600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr15:83874600-83875400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr15:83874600-83875400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
23	chr15:83874600-83875400	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr15:83874600-83875600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:83874600-83875600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:83874600-83875600	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr15:83874600-83876000	Active TSS	Right Atrium	heart
28	chr15:83874600-83877000	Active TSS	Fetal Muscle Leg	muscle
29	chr15:83874600-83877200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:83874600-83877400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr15:83874600-83877400	Active TSS	Brain Anterior Caudate	brain
32	chr15:83874600-83877600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:83874600-83877800	Active TSS	Fetal Brain Female	brain
34	chr15:83874800-83875400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr15:83874800-83875400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr15:83874800-83875400	Flanking Active TSS	Hela-S3	cervix
37	chr15:83874800-83875400	Flanking Active TSS	NHLF	lung
38	chr15:83874800-83875800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:83874800-83875800	Active TSS	Fetal Brain Male	brain
40	chr15:83874800-83877000	Active TSS	HUVEC	blood vessel
41	chr15:83874800-83877200	Active TSS	Ovary	ovary
42	chr15:83874800-83877400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr15:83874800-83877400	Active TSS	Brain Angular Gyrus	brain
44	chr15:83874800-83877400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:83874800-83877400	Active TSS	NH-A	brain
46	chr15:83874800-83877600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:83874800-83877800	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:83875000-83875400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr15:83875000-83875400	Active TSS	Primary T cells from cord blood	blood
50	chr15:83875000-83875400	Flanking Active TSS	Brain Substantia Nigra	brain

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