Variant report

Variant	esv3334500
Chromosome Location	chr15:83478048-83480146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:736)
CpG islands
(count:490)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:736 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:83478011-83478623	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:83479918-83480157	K562	blood:	n/a	n/a
3	ATF1	chr15:83478096-83478472	K562	blood:	n/a	n/a
4	ATF2	chr15:83479287-83480364	GM12878	blood:	n/a	n/a
5	ATF2	chr15:83479355-83480327	GM12878	blood:	n/a	n/a
6	BACH1	chr15:83478703-83479200	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr15:83479819-83480227	GM12878	blood:	n/a	n/a
8	BATF	chr15:83479342-83480289	GM12878	blood:	n/a	n/a
9	BCL11A	chr15:83479559-83480160	GM12878	blood:	n/a	n/a
10	BCL11A	chr15:83479278-83480283	GM12878	blood:	n/a	n/a
11	BCL3	chr15:83478090-83478684	A549	lung:	n/a	chr15:83478308-83478321
12	BCL3	chr15:83479847-83480193	GM12878	blood:	n/a	n/a
13	BCLAF1	chr15:83479577-83480105	GM12878	blood:	n/a	n/a
14	BCLAF1	chr15:83479251-83480322	GM12878	blood:	n/a	n/a
15	BCLAF1	chr15:83478253-83478873	GM12878	blood:	n/a	chr15:83478308-83478321
16	BHLHE40	chr15:83477990-83478738	HepG2	liver:	n/a	n/a
17	BHLHE40	chr15:83479558-83480312	GM12878	blood:	n/a	n/a
18	BHLHE40	chr15:83477856-83479095	GM12878	blood:	n/a	n/a
19	BHLHE40	chr15:83478064-83479667	K562	blood:	n/a	chr15:83479238-83479254
20	BRCA1	chr15:83478091-83478611	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr15:83479019-83479131	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr15:83479069-83479078	HepG2	liver:	n/a	n/a
23	CBX3	chr15:83477918-83478761	K562	blood:	n/a	n/a
24	CCNT2	chr15:83478142-83479327	K562	blood:	n/a	n/a
25	CEBPB	chr15:83478031-83478356	A549	lung:	n/a	chr15:83478322-83478330
26	CEBPB	chr15:83477972-83478425	K562	blood:	n/a	chr15:83478322-83478330
27	CEBPB	chr15:83477978-83478361	H1-hESC	embryonic stem cell:	n/a	chr15:83478322-83478330
28	CEBPB	chr15:83479212-83479564	IMR90	lung:	n/a	n/a
29	CEBPB	chr15:83478049-83478219	HepG2	liver:	n/a	n/a
30	CEBPB	chr15:83477853-83478531	A549	lung:	n/a	chr15:83478322-83478330
31	CEBPB	chr15:83479279-83479515	K562	blood:	n/a	n/a
32	CEBPB	chr15:83477978-83478306	K562	blood:	n/a	n/a
33	CEBPB	chr15:83479983-83480095	K562	blood:	n/a	n/a
34	CEBPB	chr15:83477981-83478530	HepG2	liver:	n/a	chr15:83478322-83478330
35	CEBPB	chr15:83477946-83478388	A549	lung:	n/a	chr15:83478322-83478330
36	CEBPB	chr15:83479281-83479434	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr15:83478053-83478300	HepG2	liver:	n/a	n/a
38	CEBPB	chr15:83478002-83478537	HepG2	liver:	n/a	chr15:83478322-83478330
39	CEBPB	chr15:83478923-83479525	HepG2	liver:	n/a	n/a
40	CEBPB	chr15:83479189-83480121	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr15:83479061-83479583	A549	lung:	n/a	n/a
42	CEBPB	chr15:83477980-83478392	ECC-1	luminal epithelium:	n/a	chr15:83478322-83478330
43	CEBPB	chr15:83479364-83480383	GM12878	blood:	n/a	n/a
44	CEBPB	chr15:83477994-83478399	IMR90	lung:	n/a	chr15:83478322-83478330
45	CEBPB	chr15:83477967-83478790	Hela-S3	cervix:	n/a	chr15:83478322-83478330
46	CEBPB	chr15:83477902-83478435	MCF-7	breast:	n/a	chr15:83478322-83478330
47	CEBPB	chr15:83477974-83478432	ECC-1	luminal epithelium:	n/a	chr15:83478322-83478330
48	CEBPB	chr15:83477906-83478369	K562	blood:	n/a	chr15:83478322-83478330
49	CEBPB	chr15:83477904-83478473	MCF-7	breast:	n/a	chr15:83478322-83478330
50	CEBPD	chr15:83478053-83478530	HepG2	liver:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83479272-83479322	T-47D	breast:	n/a
2	chr15:83478255-83478305	NHBE	bronchial:	n/a
3	chr15:83479272-83479322	T-47D	breast:	n/a
4	chr15:83478255-83478305	NHBE	bronchial:	n/a
5	chr15:83479213-83479263	AG04450	lung:	fetal
6	chr15:83478367-83478417	AG04450	lung:	fetal
7	chr15:83479272-83479322	LNCaP	prostate:	n/a
8	chr15:83478878-83478928	HCT-116	colon:	n/a
9	chr15:83478541-83478591	SK-N-MC	brain:	n/a
10	chr15:83479213-83479263	IMR90	lung:	fetal
11	chr15:83478367-83478417	SKMC	muscle:	n/a
12	chr15:83479213-83479263	K562	blood:	n/a
13	chr15:83478255-83478305	BJ	skin:	n/a
14	chr15:83478411-83478461	SK-N-MC	brain:	n/a
15	chr15:83478524-83478574	PFSK-1	brain:	n/a
16	chr15:83478541-83478591	IMR90	lung:	fetal
17	chr15:83478524-83478574	SK-N-MC	brain:	n/a
18	chr15:83478541-83478591	MCF-7	breast:	n/a
19	chr15:83478411-83478461	ProgFib	skin:	n/a
20	chr15:83479213-83479263	HCM	heart:	n/a
21	chr15:83479272-83479322	HEK293	kidney:	embryo
22	chr15:83478255-83478305	Caco-2	colon:	n/a
23	chr15:83479272-83479322	SK-N-SH_RA	brain:	n/a
24	chr15:83478878-83478928	HCM	heart:	n/a
25	chr15:83478524-83478574	AG10803	skin:	n/a
26	chr15:83478411-83478461	HMEC	breast:	n/a
27	chr15:83478255-83478305	HRE	kidney:	n/a
28	chr15:83479272-83479322	AG04450	lung:	fetal
29	chr15:83478541-83478591	AG04450	lung:	fetal
30	chr15:83478411-83478461	LNCaP	prostate:	n/a
31	chr15:83478255-83478305	GM06990	blood:	n/a
32	chr15:83478367-83478417	CMK	blood:	n/a
33	chr15:83478878-83478928	RPTEC	kidney:	n/a
34	chr15:83478255-83478305	SK-N-MC	brain:	n/a
35	chr15:83478524-83478574	NT2-D1	testis:	n/a
36	chr15:83479272-83479322	MCF10A-Er-Src	breast:	n/a
37	chr15:83478411-83478461	Hela-S3	cervix:	n/a
38	chr15:83478367-83478417	SK-N-SH_RA	brain:	n/a
39	chr15:83478524-83478574	NH-A	brain:	n/a
40	chr15:83478255-83478305	HEK293	kidney:	embryo
41	chr15:83478541-83478591	HCM	heart:	n/a
42	chr15:83478367-83478417	Caco-2	colon:	n/a
43	chr15:83478541-83478591	HEK293	kidney:	embryo
44	chr15:83478255-83478305	H1-hESC	embryonic stem cell:	embryo
45	chr15:83478524-83478574	HPAEpiC	pulmonary alveolar:	n/a
46	chr15:83478411-83478461	SKMC	muscle:	n/a
47	chr15:83478411-83478461	U87	brain:	n/a
48	chr15:83478255-83478305	MCF10A-Er-Src	breast:	n/a
49	chr15:83478524-83478574	Jurkat	blood:	n/a
50	chr15:83479272-83479322	HCF	heart:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83417361..83424147-chr15:83476165..83481050,26	MCF-7	breast:
2	chr15:83417832..83422548-chr15:83476028..83480956,9	K562	blood:
3	chr15:83347885..83349520-chr15:83478710..83480628,2	MCF-7	breast:
4	chr15:83477529..83479377-chr15:83517237..83520056,3	K562	blood:
5	chr15:83418742..83419414-chr15:83478376..83479191,2	Hela-S3	cervix:
6	chr15:83477828..83481866-chr15:83483118..83489176,7	K562	blood:
7	chr15:83407361..83409606-chr15:83477408..83479472,2	MCF-7	breast:
8	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
9	chr15:83477527..83479377-chr15:83517237..83519936,2	K562	blood:
10	chr15:83478211..83480402-chr15:83735487..83737469,2	MCF-7	breast:
11	chr15:83477554..83479674-chr15:83486165..83489315,3	MCF-7	breast:
12	chr15:83333197..83334998-chr15:83479229..83480988,2	MCF-7	breast:
13	chr15:83376836..83378789-chr15:83478421..83480593,2	MCF-7	breast:
14	chr15:83417500..83421911-chr15:83474614..83480217,8	MCF-7	breast:
15	chr15:83348193..83350766-chr15:83477443..83480779,4	MCF-7	breast:
16	chr15:83478077..83478694-chr19:56632004..56632840,2	Hela-S3	cervix:
17	chr15:83478198..83478889-chr5:102455539..102456094,2	Hela-S3	cervix:
18	chr15:83417749..83420684-chr15:83476028..83479878,6	K562	blood:
19	chr1:153508043..153508984-chr15:83478155..83479111,2	Hela-S3	cervix:
20	chr15:83477632..83480172-chr15:83484528..83487051,2	MCF-7	breast:
21	chr15:83478349..83478996-chr5:98264221..98265198,2	Hela-S3	cervix:
22	chr15:83476033..83478214-chr15:83679893..83681510,2	K562	blood:
23	chr15:83478347..83478879-chr2:10182698..10183566,2	Hela-S3	cervix:
24	chr15:83478011..83478847-chr17:26988790..26989739,2	Hela-S3	cervix:
25	chr15:83478452..83480034-chr15:83499455..83501748,2	MCF-7	breast:
26	chr15:83475882..83480852-chr15:83678880..83683242,6	MCF-7	breast:
27	chr15:83478214..83478879-chr6:24720555..24721193,2	Hela-S3	cervix:
28	chr15:83476923..83480237-chr15:83875108..83878990,4	MCF-7	breast:
29	chr15:83423255..83426158-chr15:83477607..83479598,3	MCF-7	breast:
30	chr15:83478686..83480372-chr15:83679248..83681221,2	MCF-7	breast:
31	chr15:83346623..83348757-chr15:83479507..83481301,2	K562	blood:
32	chr15:83478559..83480416-chr15:83489248..83490840,2	MCF-7	breast:
33	chr15:83479049..83481749-chr15:83503841..83505564,2	K562	blood:
34	chr15:83478234..83479933-chr15:83485060..83487669,2	K562	blood:

No data

Variant related genes	Relation type
FSD2	TF binding region
WHAMM	TF binding region
FSD2	CpG island
WHAMM	CpG island
ENSG00000252690	chromatin interactions
ENSG00000259315	chromatin interactions
ENSG00000166503	chromatin interactions
ENSG00000169609	chromatin interactions
ENSG00000197956	chromatin interactions
ENSG00000156232	chromatin interactions
ENSG00000112308	chromatin interactions
ENSG00000263643	chromatin interactions
ENSG00000259462	chromatin interactions
ENSG00000103723	chromatin interactions
ENSG00000145725	chromatin interactions
ENSG00000250988	chromatin interactions
ENSG00000064726	chromatin interactions
ENSG00000172059	chromatin interactions
ENSG00000142409	chromatin interactions
ENSG00000103942	chromatin interactions
ENSG00000214575	chromatin interactions
ENSG00000248489	chromatin interactions
ENSG00000109111	chromatin interactions
ENSG00000145723	chromatin interactions
ENSG00000260608	chromatin interactions
ENSG00000132581	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558293747	chr15:83478051-83478052	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs572029038	chr15:83478070-83478071	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs199846096	chr15:83478154-83478155	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs8042254	chr15:83478169-83478170	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs150969408	chr15:83478172-83478173	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs563480880	chr15:83478196-83478197	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs542652654	chr15:83478218-83478219	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
8	rs562998205	chr15:83478265-83478266	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
9	rs576594035	chr15:83478315-83478316	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
10	rs386785862	chr15:83478327-83478328	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
11	rs545634154	chr15:83478359-83478360	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
12	rs565451610	chr15:83478362-83478363	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
13	rs75466753	chr15:83478368-83478369	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
14	rs534893070	chr15:83478369-83478370	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
15	rs548031764	chr15:83478380-83478381	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
16	rs561417533	chr15:83478385-83478386	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
17	rs529744233	chr15:83478426-83478427	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
18	rs543700680	chr15:83478428-83478429	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
19	rs373472104	chr15:83478440-83478441	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
20	rs377475257	chr15:83478445-83478446	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
21	rs5814130	chr15:83478449-83478450	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
22	rs372706271	chr15:83478558-83478559	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
23	rs375686831	chr15:83478616-83478617	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
24	rs35433760	chr15:83478627-83478628	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
25	rs369320020	chr15:83478634-83478635	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
26	rs551953623	chr15:83478649-83478650	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
27	rs201191404	chr15:83478684-83478685	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
28	rs372793888	chr15:83478690-83478691	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
29	rs11556470	chr15:83478713-83478714	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
30	rs111303258	chr15:83478808-83478809	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
31	rs12901909	chr15:83478907-83478908	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs534508214	chr15:83479182-83479183	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs554894002	chr15:83479186-83479187	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs535855266	chr15:83479187-83479188	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs536678141	chr15:83479202-83479203	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs548997498	chr15:83479294-83479295	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs556563449	chr15:83479309-83479310	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs576633599	chr15:83479321-83479322	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs545472438	chr15:83479331-83479332	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs66851469	chr15:83479349-83479350	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs191437285	chr15:83479403-83479404	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs368024278	chr15:83479483-83479484	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs541264571	chr15:83479569-83479570	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs528437870	chr15:83479612-83479613	Active TSS Flanking 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
45	rs201322325	chr15:83479635-83479636	Active TSS Flanking 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
46	rs142052279	chr15:83479730-83479731	Active TSS Flanking 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
47	rs374844077	chr15:83479746-83479747	Active TSS Flanking 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
48	rs530314778	chr15:83479764-83479765	Active TSS Flanking 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
49	rs571428839	chr15:83479826-83479827	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs543034226	chr15:83479915-83479916	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
renal disease	17924346	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
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83471200-83478200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:83472400-83478200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:83475000-83478400	Weak transcription	Left Ventricle	heart
4	chr15:83477200-83478200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr15:83477400-83478200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:83477400-83478200	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr15:83477400-83478200	Flanking Active TSS	Fetal Heart	heart
8	chr15:83477400-83478200	Flanking Active TSS	Dnd41	blood
9	chr15:83477400-83478200	Flanking Active TSS	GM12878-XiMat	blood
10	chr15:83477400-83478200	Flanking Active TSS	Hela-S3	cervix
11	chr15:83477400-83478200	Flanking Active TSS	K562	blood
12	chr15:83477400-83480400	Active TSS	Colonic Mucosa	Colon
13	chr15:83477400-83480400	Active TSS	Stomach Mucosa	stomach
14	chr15:83477400-83481000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:83477600-83478200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr15:83477600-83478200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:83477600-83478200	Enhancers	Spleen	Spleen
18	chr15:83477600-83478200	Flanking Active TSS	A549	lung
19	chr15:83477600-83479600	Active TSS	Brain Anterior Caudate	brain
20	chr15:83477600-83480200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr15:83477600-83480400	Active TSS	Psoas Muscle	Psoas
22	chr15:83477600-83480800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:83477800-83478200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:83477800-83478200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:83477800-83478200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr15:83477800-83478200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr15:83477800-83478200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:83477800-83478200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr15:83477800-83478200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr15:83477800-83478200	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr15:83477800-83478200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr15:83477800-83478200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr15:83477800-83478200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr15:83477800-83478200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr15:83477800-83478200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr15:83477800-83478200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:83477800-83478200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr15:83477800-83478200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:83477800-83478200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:83477800-83478200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr15:83477800-83478200	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr15:83477800-83478200	Flanking Active TSS	Liver	Liver
43	chr15:83477800-83478200	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr15:83477800-83478200	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr15:83477800-83478200	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr15:83477800-83478200	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr15:83477800-83478200	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr15:83477800-83478200	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr15:83477800-83478200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr15:83477800-83478200	Flanking Active TSS	Rectal Smooth Muscle	rectum

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