Variant report

Variant	esv1797741
Chromosome Location	chr15:31617877-31620943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:31618589-31618992	K562	blood:	n/a	n/a
2	ARID3A	chr15:31618550-31618737	HepG2	liver:	n/a	n/a
3	ATF1	chr15:31618502-31618980	K562	blood:	n/a	n/a
4	ATF2	chr15:31620603-31621392	GM12878	blood:	n/a	n/a
5	ATF2	chr15:31617290-31617914	GM12878	blood:	n/a	n/a
6	ATF2	chr15:31618283-31619194	GM12878	blood:	n/a	chr15:31618978-31618992
7	ATF2	chr15:31620817-31621099	GM12878	blood:	n/a	n/a
8	ATF3	chr15:31618605-31619046	K562	blood:	n/a	chr15:31618970-31618990 chr15:31618976-31618990 chr15:31618669-31618679 chr15:31618905-31618914
9	BACH1	chr15:31620467-31620575	K562	blood:	n/a	n/a
10	BACH1	chr15:31618840-31621115	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr15:31620722-31621128	GM12878	blood:	n/a	n/a
12	BCL3	chr15:31620715-31621078	GM12878	blood:	n/a	chr15:31620878-31620891
13	BCL3	chr15:31617942-31619239	GM12878	blood:	n/a	chr15:31618938-31618947 chr15:31618149-31618162 chr15:31618933-31618946 chr15:31618360-31618373 chr15:31618099-31618112 chr15:31618424-31618433 chr15:31618661-31618670 chr15:31618494-31618507 chr15:31618416-31618429 chr15:31618932-31618945 chr15:31618212-31618225 chr15:31618935-31618948 chr15:31618612-31618625
14	BCL3	chr15:31617847-31618839	A549	lung:	n/a	chr15:31617883-31617896 chr15:31617885-31617898 chr15:31618149-31618162 chr15:31618360-31618373 chr15:31618099-31618112 chr15:31618424-31618433 chr15:31618661-31618670 chr15:31618494-31618507 chr15:31618416-31618429 chr15:31618212-31618225 chr15:31618612-31618625
15	BCLAF1	chr15:31617969-31618750	GM12878	blood:	n/a	chr15:31618149-31618162 chr15:31618360-31618373 chr15:31618099-31618112 chr15:31618424-31618433 chr15:31618661-31618670 chr15:31618494-31618507 chr15:31618416-31618429 chr15:31618212-31618225 chr15:31618612-31618625
16	BCLAF1	chr15:31616819-31619281	GM12878	blood:	n/a	chr15:31617883-31617896 chr15:31618938-31618947 chr15:31617885-31617898 chr15:31618149-31618162 chr15:31618933-31618946 chr15:31618360-31618373 chr15:31619243-31619256 chr15:31618099-31618112 chr15:31618424-31618433 chr15:31618661-31618670 chr15:31618494-31618507 chr15:31618416-31618429 chr15:31618932-31618945 chr15:31618212-31618225 chr15:31618935-31618948 chr15:31617222-31617229 chr15:31618612-31618625
17	BCLAF1	chr15:31616995-31617967	GM12878	blood:	n/a	chr15:31617883-31617896 chr15:31617885-31617898 chr15:31617222-31617229
18	BCLAF1	chr15:31620583-31621248	GM12878	blood:	n/a	chr15:31620878-31620891 chr15:31620593-31620602
19	BHLHE40	chr15:31619930-31622070	GM12878	blood:	n/a	chr15:31621042-31621051 chr15:31621041-31621054 chr15:31621037-31621058 chr15:31621044-31621053 chr15:31620807-31620823 chr15:31620142-31620158 chr15:31620315-31620331 chr15:31620821-31620837
20	BHLHE40	chr15:31618246-31621387	K562	blood:	n/a	chr15:31621042-31621051 chr15:31621041-31621054 chr15:31619262-31619278 chr15:31618319-31618335 chr15:31618422-31618438 chr15:31621037-31621058 chr15:31621044-31621053 chr15:31620807-31620823 chr15:31620142-31620158 chr15:31618932-31618948 chr15:31619050-31619066 chr15:31620315-31620331 chr15:31619154-31619170 chr15:31620821-31620837
21	BHLHE40	chr15:31617318-31617910	GM12878	blood:	n/a	n/a
22	BHLHE40	chr15:31618121-31619637	GM12878	blood:	n/a	chr15:31619262-31619278 chr15:31618319-31618335 chr15:31618143-31618159 chr15:31618422-31618438 chr15:31618932-31618948 chr15:31619050-31619066 chr15:31619154-31619170
23	BHLHE40	chr15:31620283-31621504	HepG2	liver:	n/a	chr15:31621042-31621051 chr15:31621041-31621054 chr15:31621037-31621058 chr15:31621044-31621053 chr15:31620807-31620823 chr15:31620315-31620331 chr15:31620821-31620837
24	BHLHE40	chr15:31618206-31619189	HepG2	liver:	n/a	chr15:31618319-31618335 chr15:31618422-31618438 chr15:31618932-31618948 chr15:31619050-31619066 chr15:31619154-31619170
25	BRCA1	chr15:31618538-31618564	HepG2	liver:	n/a	n/a
26	BRCA1	chr15:31618323-31618891	Hela-S3	cervix:	n/a	n/a
27	CCNT2	chr15:31617711-31620924	K562	blood:	n/a	chr15:31618905-31618914 chr15:31617900-31617909 chr15:31620285-31620294
28	CEBPB	chr15:31620700-31621355	GM12878	blood:	n/a	n/a
29	CEBPB	chr15:31618305-31619136	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr15:31620458-31620616	Hela-S3	cervix:	n/a	n/a
31	CEBPD	chr15:31619984-31620619	HepG2	liver:	n/a	n/a
32	CEBPD	chr15:31618402-31619106	HepG2	liver:	n/a	n/a
33	CHD1	chr15:31616631-31618762	GM12878	blood:	n/a	n/a
34	CHD1	chr15:31620349-31621401	GM12878	blood:	n/a	n/a
35	CHD1	chr15:31617210-31621792	IMR90	lung:	n/a	chr15:31620036-31620046 chr15:31620162-31620172 chr15:31620076-31620086 chr15:31620113-31620123
36	CHD1	chr15:31618979-31620122	GM12878	blood:	n/a	chr15:31620036-31620046 chr15:31620076-31620086
37	CHD2	chr15:31617575-31619605	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr15:31619939-31620667	Hela-S3	cervix:	n/a	chr15:31620036-31620046 chr15:31620162-31620172 chr15:31620076-31620086 chr15:31620113-31620123
39	CHD2	chr15:31618493-31619111	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr15:31620801-31620814	HepG2	liver:	n/a	n/a
41	CHD2	chr15:31619810-31620094	GM12878	blood:	n/a	chr15:31620036-31620046 chr15:31620076-31620086
42	CHD2	chr15:31618484-31618982	K562	blood:	n/a	n/a
43	CHD2	chr15:31617045-31619545	GM12878	blood:	n/a	n/a
44	CHD2	chr15:31620294-31621673	GM12878	blood:	n/a	n/a
45	CHD2	chr15:31618203-31619255	HepG2	liver:	n/a	n/a
46	CREB1	chr15:31618364-31619213	K562	blood:	n/a	n/a
47	CREB1	chr15:31619885-31620727	A549	lung:	n/a	n/a
48	CREB1	chr15:31618365-31619455	K562	blood:	n/a	n/a
49	CREB1	chr15:31618444-31618928	ECC-1	luminal epithelium:	n/a	n/a
50	CREB1	chr15:31617727-31619445	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:31618604-31618654	HAEpiC	amniotic membrane:	n/a
2	chr15:31619399-31619449	BE2_C	brain:	n/a
3	chr15:31618604-31618654	LNCaP	prostate:	n/a
4	chr15:31620290-31620340	SK-N-SH	brain:	n/a
5	chr15:31618618-31618668	GM12878	blood:	n/a
6	chr15:31619396-31619446	MCF-7	breast:	n/a
7	chr15:31619396-31619446	AoSMC	blood vessel:	n/a
8	chr15:31618604-31618654	A549	lung:	n/a
9	chr15:31619399-31619449	NB4	blood:	n/a
10	chr15:31618604-31618654	BJ	skin:	n/a
11	chr15:31618618-31618668	Hepatocyte	liver:	n/a
12	chr15:31619949-31619999	AG09309	skin:	n/a
13	chr15:31619006-31619056	MCF-7	breast:	n/a
14	chr15:31619396-31619446	A549	lung:	n/a
15	chr15:31619006-31619056	GM06990	blood:	n/a
16	chr15:31619006-31619056	NHBE	bronchial:	n/a
17	chr15:31618618-31618668	SK-N-SH_RA	brain:	n/a
18	chr15:31619399-31619449	HAEpiC	amniotic membrane:	n/a
19	chr15:31618604-31618654	BE2_C	brain:	n/a
20	chr15:31619949-31619999	HEEpiC	esophagus:	n/a
21	chr15:31618618-31618668	H1-hESC	embryonic stem cell:	embryo
22	chr15:31619949-31619999	AoSMC	blood vessel:	n/a
23	chr15:31618604-31618654	ProgFib	skin:	n/a
24	chr15:31619399-31619449	HepG2	liver:	n/a
25	chr15:31619399-31619449	ECC-1	luminal epithelium:	n/a
26	chr15:31619399-31619449	HRCEpiC	kidney:	n/a
27	chr15:31619006-31619056	HAEpiC	amniotic membrane:	n/a
28	chr15:31619399-31619449	HUVEC	blood vessel:	n/a
29	chr15:31618604-31618654	AG10803	skin:	n/a
30	chr15:31619949-31619999	AG10803	skin:	n/a
31	chr15:31619949-31619999	HUVEC	blood vessel:	n/a
32	chr15:31620290-31620340	SAEC	small airway:	n/a
33	chr15:31619006-31619056	HEEpiC	esophagus:	n/a
34	chr15:31619949-31619999	PANC-1	pancreas:	n/a
35	chr15:31618618-31618668	PrEC	prostate:	n/a
36	chr15:31619396-31619446	IMR90	lung:	fetal
37	chr15:31619399-31619449	PrEC	prostate:	n/a
38	chr15:31618618-31618668	HPAEpiC	pulmonary alveolar:	n/a
39	chr15:31619399-31619449	Jurkat	blood:	n/a
40	chr15:31619396-31619446	Hepatocyte	liver:	n/a
41	chr15:31618618-31618668	GM12891	blood:	n/a
42	chr15:31619006-31619056	HRPEpiC	eye:	n/a
43	chr15:31618604-31618654	HL-60	blood:	n/a
44	chr15:31618604-31618654	MCF-7	breast:	n/a
45	chr15:31619006-31619056	HUVEC	blood vessel:	n/a
46	chr15:31619006-31619056	Hela-S3	cervix:	n/a
47	chr15:31619399-31619449	HCT-116	colon:	n/a
48	chr15:31619949-31619999	Caco-2	colon:	n/a
49	chr15:31619399-31619449	HCPEpiC	choroid plexus:	n/a
50	chr15:31618604-31618654	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:31617830..31618662-chr8:43094478..43095043,2	MCF-7	breast:
2	chr15:31608249..31610861-chr15:31620080..31623099,3	K562	blood:
3	chr15:31507074..31509248-chr15:31619187..31621529,2	MCF-7	breast:
4	chr15:31618253..31621608-chr15:31655043..31658553,3	K562	blood:
5	chr15:31507333..31508207-chr15:31618137..31618644,2	MCF-7	breast:
6	chr15:31619684..31620471-chr16:30709793..30710319,2	Hela-S3	cervix:
7	chr15:31619962..31620883-chr7:26239738..26240418,2	Hela-S3	cervix:
8	chr15:31618617..31619175-chr17:76920900..76921481,2	Hela-S3	cervix:
9	chr15:31618837..31619492-chr17:8286314..8286908,2	Hela-S3	cervix:
10	chr15:31618754..31620549-chr15:31631588..31633647,2	K562	blood:
11	chr15:31615054..31617899-chr15:31634755..31636481,2	MCF-7	breast:
12	chr15:31619043..31619728-chr17:62340009..62340776,2	Hela-S3	cervix:
13	chr15:31620067..31620789-chr15:31727225..31727966,3	MCF-7	breast:
14	chr15:31618668..31619569-chr2:9770552..9771168,2	HCT-116	colon:
15	chr15:31619156..31619701-chr5:40678819..40679598,2	Hela-S3	cervix:
16	chr15:31618649..31619470-chr7:86781497..86782119,2	Hela-S3	cervix:
17	chr15:31608249..31610861-chr15:31620873..31623099,2	K562	blood:
18	chr15:31618149..31620497-chr15:31657004..31658970,2	MCF-7	breast:
19	chr15:31616992..31619470-chr15:31682984..31685911,2	K562	blood:
20	chr15:31618609..31619470-chr7:143077778..143078496,2	Hela-S3	cervix:
21	chr15:31616920..31619586-chr8:103667733..103670691,2	MCF-7	breast:
22	chr15:31618168..31621382-chr15:31631982..31634646,4	MCF-7	breast:
23	chr15:31507690..31508326-chr15:31619594..31620115,2	MCF-7	breast:
24	chr15:31618838..31621702-chr15:31631313..31632972,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAN1-2	chr15:31619770-31619992	NONHSAT041444

Variant related genes	Relation type
KLF13	TF binding region
KLF13	CpG island
ENSG00000224046	chromatin interactions
ENSG00000263809	chromatin interactions
ENSG00000135164	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000169926	chromatin interactions
ENSG00000035862	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000159840	chromatin interactions
ENSG00000259448	chromatin interactions
ENSG00000136478	chromatin interactions
ENSG00000161970	chromatin interactions
ENSG00000155090	chromatin interactions
ENSG00000134308	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8041203	chr15:31617877-31617878	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs559103713	chr15:31617908-31617909	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs528063304	chr15:31617927-31617928	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs73381264	chr15:31617929-31617930	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs114160484	chr15:31617943-31617944	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs549956257	chr15:31617959-31617960	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs570038929	chr15:31617973-31617974	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs538946932	chr15:31618160-31618161	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs532825438	chr15:31618211-31618212	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs552800144	chr15:31618219-31618220	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs111960531	chr15:31618237-31618238	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs534968657	chr15:31618255-31618256	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs554775549	chr15:31618260-31618261	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs574977004	chr15:31618265-31618266	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs537271216	chr15:31618275-31618276	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs968594	chr15:31618284-31618285	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577079449	chr15:31618315-31618316	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs371599707	chr15:31618327-31618328	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs559554931	chr15:31618343-31618344	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs572761511	chr15:31618353-31618354	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs541802483	chr15:31618373-31618374	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs375380257	chr15:31618381-31618382	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs530497191	chr15:31618392-31618393	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs368313822	chr15:31618411-31618412	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs549994633	chr15:31618423-31618424	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs563554258	chr15:31618424-31618425	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs183635362	chr15:31618538-31618539	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs80177425	chr15:31618590-31618591	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs566322263	chr15:31618591-31618592	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs555186968	chr15:31618620-31618621	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs534750004	chr15:31618638-31618639	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs150793629	chr15:31618641-31618642	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs548581029	chr15:31618642-31618643	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs188522489	chr15:31618658-31618659	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs74409869	chr15:31618659-31618660	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs557464963	chr15:31618663-31618664	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs2082976	chr15:31618670-31618671	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs539580436	chr15:31618684-31618685	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs553035785	chr15:31618689-31618690	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs150608458	chr15:31618692-31618693	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs573091810	chr15:31618755-31618756	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs371450808	chr15:31618780-31618781	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs541487002	chr15:31618797-31618798	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs2099545	chr15:31618939-31618940	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs574857939	chr15:31619020-31619021	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs543923478	chr15:31619165-31619166	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs563790750	chr15:31619289-31619290	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs532605603	chr15:31619350-31619351	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs546367534	chr15:31619401-31619402	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs77996726	chr15:31619442-31619443	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	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
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	CNVD
Colorectal cancer	16774939	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Pancreatic cancer	17952125	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31616000-31618000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr15:31616800-31618400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr15:31617000-31618000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr15:31617000-31618000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr15:31617000-31618000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:31617000-31618000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr15:31617200-31618000	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr15:31617200-31618000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr15:31617200-31618000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr15:31617200-31618000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr15:31617200-31618000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:31617200-31618000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:31617200-31618000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:31617200-31618000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr15:31617200-31618000	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr15:31617200-31618000	Active TSS	Right Atrium	heart
17	chr15:31617200-31618000	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr15:31617200-31618000	Flanking Active TSS	Dnd41	blood
19	chr15:31617200-31618000	Flanking Active TSS	HSMM	muscle
20	chr15:31617200-31618200	Flanking Active TSS	HMEC	breast
21	chr15:31617200-31621200	Active TSS	Placenta Amnion	Placenta Amnion
22	chr15:31617200-31621800	Active TSS	Left Ventricle	heart
23	chr15:31617400-31618000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr15:31617400-31618000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr15:31617400-31618000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:31617400-31618000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr15:31617400-31618000	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr15:31617400-31618200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:31617400-31621000	Active TSS	NH-A	brain
30	chr15:31617400-31621800	Active TSS	GM12878-XiMat	blood
31	chr15:31617400-31622000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr15:31617400-31622000	Active TSS	Esophagus	oesophagus
33	chr15:31617400-31622400	Active TSS	Gastric	stomach
34	chr15:31617600-31618000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr15:31617600-31618000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:31617600-31618000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:31617600-31618000	Flanking Active TSS	Placenta	Placenta
38	chr15:31617600-31620600	Active TSS	Psoas Muscle	Psoas
39	chr15:31617600-31620800	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr15:31617600-31621000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:31617600-31621000	Active TSS	Thymus	Thymus
42	chr15:31617600-31621000	Active TSS	A549	lung
43	chr15:31617600-31621200	Active TSS	Aorta	Aorta
44	chr15:31617600-31621200	Active TSS	Right Ventricle	heart
45	chr15:31617600-31621400	Active TSS	Spleen	Spleen
46	chr15:31617600-31621600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:31617600-31621600	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr15:31617600-31621800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:31617600-31621800	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr15:31617600-31621800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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