Variant report

Variant	esv3379660
Chromosome Location	chr15:41850410-41852608
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	ATF3	chr15:41851058-41851326	K562	blood:	n/a	n/a
2	BACH1	chr15:41849830-41850529	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr15:41852468-41852823	GM12878	blood:	n/a	n/a
4	BHLHE40	chr15:41849900-41850410	GM12878	blood:	n/a	chr15:41849958-41849974 chr15:41849946-41849962
5	BRCA1	chr15:41850474-41850680	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr15:41849895-41850464	H1-hESC	embryonic stem cell:	n/a	n/a
7	CCNT2	chr15:41850900-41851648	K562	blood:	n/a	n/a
8	CEBPB	chr15:41850270-41850711	Hela-S3	cervix:	n/a	n/a
9	CEBPD	chr15:41851191-41851581	HepG2	liver:	n/a	n/a
10	CHD2	chr15:41851186-41851441	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr15:41851747-41851822	K562	blood:	n/a	n/a
12	CHD2	chr15:41851722-41851922	Hela-S3	cervix:	n/a	n/a
13	CREB1	chr15:41850970-41851637	K562	blood:	n/a	n/a
14	CREB1	chr15:41851053-41851443	A549	lung:	n/a	n/a
15	CTCF	chr15:41850737-41850791	GM19239	blood:	n/a	n/a
16	CTCF	chr15:41851060-41851210	GM12873	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
17	CTCF	chr15:41850700-41850850	GM12871	blood:	n/a	n/a
18	CTCF	chr15:41851060-41851210	GM12871	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
19	CTCF	chr15:41851020-41851170	HUVEC	blood vessel:	n/a	chr15:41851122-41851135
20	CTCF	chr15:41851100-41851250	GM12869	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
21	CTCF	chr15:41851000-41851150	AG04449	skin:	n/a	chr15:41851122-41851135
22	CTCF	chr15:41851000-41851150	GM12865	blood:	n/a	chr15:41851122-41851135
23	CTCF	chr15:41851060-41851210	GM12867	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
24	CTCF	chr15:41851000-41851150	GM12866	blood:	n/a	chr15:41851122-41851135
25	CTCF	chr15:41850694-41850753	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr15:41851020-41851170	GM12874	blood:	n/a	chr15:41851122-41851135
27	CTCF	chr15:41850600-41850750	NHDF-neo	bronchial:	n/a	n/a
28	CTCF	chr15:41850480-41850630	AG09319	gingival:	n/a	n/a
29	CTCF	chr15:41851099-41851174	Lung_OC	lung:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
30	CTCF	chr15:41850980-41851130	GM12864	blood:	n/a	n/a
31	CTCF	chr15:41850660-41850810	AG04449	skin:	n/a	n/a
32	CTCF	chr15:41851084-41851199	LNCaP	prostate:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
33	CTCF	chr15:41850500-41850770	AoAF	blood vessel:	n/a	n/a
34	CTCF	chr15:41850580-41850730	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr15:41850731-41850821	K562	blood:	n/a	n/a
36	CTCF	chr15:41850740-41850890	AG10803	skin:	n/a	n/a
37	CTCF	chr15:41851020-41851170	GM12871	blood:	n/a	chr15:41851122-41851135
38	CTCF	chr15:41850540-41850810	K562	blood:	n/a	n/a
39	CTCF	chr15:41850800-41850950	GM06990	blood:	n/a	n/a
40	CTCF	chr15:41850600-41850750	HVMF	connective:	n/a	n/a
41	CTCF	chr15:41851040-41851190	GM12868	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
42	CTCF	chr15:41851064-41851186	Hela-S3	cervix:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
43	CTCF	chr15:41851060-41851210	GM12875	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
44	CTCF	chr15:41851020-41851170	HMEC	breast:	n/a	chr15:41851122-41851135
45	CTCF	chr15:41851026-41851249	GM19240	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
46	CTCF	chr15:41851078-41851223	GM10248	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
47	CTCF	chr15:41851049-41851251	GM12892	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
48	CTCF	chr15:41851133-41851163	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr15:41850700-41850850	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr15:41851093-41851223	Spleen_OC	spleen:	n/a	chr15:41851122-41851135 chr15:41851159-41851172

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:41851964-41852014	NHDF-neo	bronchial:	n/a
2	chr15:41851039-41851089	GM12878	blood:	n/a
3	chr15:41850503-41850553	MCF10A-Er-Src	breast:	n/a
4	chr15:41851964-41852014	NHDF-neo	bronchial:	n/a
5	chr15:41851039-41851089	GM12878	blood:	n/a
6	chr15:41850503-41850553	MCF10A-Er-Src	breast:	n/a
7	chr15:41851964-41852014	AoSMC	blood vessel:	n/a
8	chr15:41850612-41850662	AG09319	gingival:	n/a
9	chr15:41851047-41851097	HCF	heart:	n/a
10	chr15:41851047-41851097	H1-hESC	embryonic stem cell:	embryo
11	chr15:41851047-41851097	SAEC	small airway:	n/a
12	chr15:41850503-41850553	GM12891	blood:	n/a
13	chr15:41851039-41851089	RPTEC	kidney:	n/a
14	chr15:41851231-41851281	BE2_C	brain:	n/a
15	chr15:41851039-41851089	HUVEC	blood vessel:	n/a
16	chr15:41851047-41851097	AG04450	lung:	fetal
17	chr15:41852586-41852636	MCF-7	breast:	n/a
18	chr15:41851964-41852014	AG10803	skin:	n/a
19	chr15:41851231-41851281	NB4	blood:	n/a
20	chr15:41851964-41852014	NB4	blood:	n/a
21	chr15:41850612-41850662	LNCaP	prostate:	n/a
22	chr15:41851055-41851105	MCF-7	breast:	n/a
23	chr15:41851039-41851089	HRCEpiC	kidney:	n/a
24	chr15:41851964-41852014	SK-N-SH	brain:	n/a
25	chr15:41851210-41851260	Caco-2	colon:	n/a
26	chr15:41851042-41851092	NHBE	bronchial:	n/a
27	chr15:41851964-41852014	K562	blood:	n/a
28	chr15:41850503-41850553	SKMC	muscle:	n/a
29	chr15:41850503-41850553	HepG2	liver:	n/a
30	chr15:41851231-41851281	HEEpiC	esophagus:	n/a
31	chr15:41851039-41851089	K562	blood:	n/a
32	chr15:41851231-41851281	HRPEpiC	eye:	n/a
33	chr15:41851231-41851281	AG09309	skin:	n/a
34	chr15:41851047-41851097	K562	blood:	n/a
35	chr15:41851969-41852019	AG09319	gingival:	n/a
36	chr15:41850612-41850662	GM06990	blood:	n/a
37	chr15:41850503-41850553	HRE	kidney:	n/a
38	chr15:41851055-41851105	K562	blood:	n/a
39	chr15:41851964-41852014	CMK	blood:	n/a
40	chr15:41851964-41852014	HMEC	breast:	n/a
41	chr15:41850612-41850662	HL-60	blood:	n/a
42	chr15:41851042-41851092	GM12892	blood:	n/a
43	chr15:41851964-41852014	HEEpiC	esophagus:	n/a
44	chr15:41850503-41850553	HCF	heart:	n/a
45	chr15:41851969-41852019	BJ	skin:	n/a
46	chr15:41851964-41852014	GM12891	blood:	n/a
47	chr15:41851047-41851097	HEEpiC	esophagus:	n/a
48	chr15:41851231-41851281	RPTEC	kidney:	n/a
49	chr15:41852586-41852636	T-47D	breast:	n/a
50	chr15:41851047-41851097	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr15:41851361..41854178-chr15:42065182..42067599,2	K562	blood:
2	chr15:41850304..41852496-chr15:41951450..41954168,2	MCF-7	breast:
3	chr15:41851029..41853126-chr15:41899971..41902269,2	K562	blood:
4	chr15:41835713..41840265-chr15:41851401..41853463,4	K562	blood:
5	chr15:41849459..41853162-chr15:41854225..41857161,4	MCF-7	breast:
6	chr15:41850576..41853126-chr15:41900769..41903357,2	K562	blood:
7	chr15:41849370..41852913-chr15:41951069..41953769,6	K562	blood:
8	chr15:41784400..41789772-chr15:41847283..41854059,7	K562	blood:
9	chr15:41834571..41836708-chr15:41849262..41851156,2	K562	blood:
10	chr15:41847317..41853712-chr15:41951201..41955578,8	K562	blood:
11	chr15:41849860..41852803-chr15:41858013..41860929,2	MCF-7	breast:

Variant related genes	Relation type
TYRO3	TF binding region
TYRO3	CpG island
ENSG00000174197	chromatin interactions
ENSG00000103932	chromatin interactions
ENSG00000137825	chromatin interactions
ENSG00000092445	chromatin interactions
ENSG00000137802	chromatin interactions
ENSG00000260926	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545432297	chr15:41850435-41850436	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs186697558	chr15:41850457-41850458	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs566613595	chr15:41850493-41850494	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs538565724	chr15:41850495-41850496	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs190376239	chr15:41850537-41850538	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs117876151	chr15:41850557-41850558	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs537426365	chr15:41850597-41850598	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs73391112	chr15:41850601-41850602	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs574438878	chr15:41850608-41850609	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs540283356	chr15:41850613-41850614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs560541482	chr15:41850680-41850681	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs77430596	chr15:41850703-41850704	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs114711608	chr15:41850731-41850732	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs73391113	chr15:41850773-41850774	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs79051113	chr15:41850778-41850779	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs527785779	chr15:41850856-41850857	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs143758710	chr15:41850886-41850887	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs548290737	chr15:41850937-41850938	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs562252652	chr15:41850953-41850954	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs527784804	chr15:41851040-41851041	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs377514737	chr15:41851044-41851045	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs547839466	chr15:41851128-41851129	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs566561795	chr15:41851131-41851132	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs148149251	chr15:41851414-41851415	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs534867062	chr15:41851494-41851495	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs17854578	chr15:41851517-41851518	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs113721358	chr15:41851709-41851710	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	mRNA abundance
28	rs553038933	chr15:41851729-41851730	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs141669463	chr15:41851766-41851767	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs537488427	chr15:41851823-41851824	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs77916621	chr15:41851864-41851865	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs531857425	chr15:41851875-41851876	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs533671745	chr15:41851937-41851938	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs369913239	chr15:41851944-41851945	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs553796711	chr15:41851963-41851964	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs574400677	chr15:41851987-41851988	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs11632216	chr15:41851993-41851994	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs373818374	chr15:41851994-41851995	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs113990339	chr15:41852003-41852004	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs546400946	chr15:41852040-41852041	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs563223736	chr15:41852062-41852063	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs576802354	chr15:41852103-41852104	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs78489664	chr15:41852112-41852113	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs191434003	chr15:41852135-41852136	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs571640841	chr15:41852156-41852157	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs527648760	chr15:41852194-41852195	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs112904594	chr15:41852202-41852203	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs564218735	chr15:41852216-41852217	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs532220741	chr15:41852351-41852352	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs551943127	chr15:41852362-41852363	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Melanoma	18172304	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
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41845800-41850600	Enhancers	HUVEC	blood vessel
2	chr15:41849400-41850600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:41849800-41850600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr15:41849800-41850600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr15:41849800-41850600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr15:41849800-41850600	Enhancers	Fetal Muscle Leg	muscle
7	chr15:41849800-41850600	Enhancers	K562	blood
8	chr15:41849800-41851000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:41849800-41851000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:41850000-41850600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr15:41850000-41850600	Enhancers	Primary hematopoietic stem cells	blood
12	chr15:41850000-41850600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:41850000-41850600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:41850000-41850600	Flanking Active TSS	Brain Angular Gyrus	brain
15	chr15:41850000-41850600	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr15:41850000-41850600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:41850000-41850600	Enhancers	Esophagus	oesophagus
18	chr15:41850000-41850600	Enhancers	Fetal Intestine Large	intestine
19	chr15:41850000-41850600	Enhancers	Fetal Intestine Small	intestine
20	chr15:41850000-41850600	Enhancers	Placenta	Placenta
21	chr15:41850000-41850600	Enhancers	Fetal Stomach	stomach
22	chr15:41850000-41850600	Enhancers	Left Ventricle	heart
23	chr15:41850000-41850600	Enhancers	Ovary	ovary
24	chr15:41850000-41850600	Genic enhancers	Right Atrium	heart
25	chr15:41850000-41850600	Enhancers	Right Ventricle	heart
26	chr15:41850000-41850600	Enhancers	HSMM	muscle
27	chr15:41850000-41850600	Enhancers	HSMMtube	muscle
28	chr15:41850000-41850600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
29	chr15:41850000-41850800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:41850000-41850800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr15:41850000-41850800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr15:41850000-41850800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr15:41850000-41850800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr15:41850000-41850800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:41850000-41850800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr15:41850000-41850800	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr15:41850000-41850800	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr15:41850000-41850800	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr15:41850000-41850800	Bivalent Enhancer	Fetal Thymus	thymus
40	chr15:41850000-41850800	Enhancers	Lung	lung
41	chr15:41850000-41850800	Enhancers	Pancreas	Pancrea
42	chr15:41850000-41850800	Flanking Active TSS	A549	lung
43	chr15:41850000-41851000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:41850000-41851000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:41850000-41851000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:41850000-41851000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:41850000-41851000	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr15:41850000-41851000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr15:41850000-41851000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr15:41850000-41851000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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