Variant report

Variant	esv3397684
Chromosome Location	chr5:40678645-40681143
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	BACH1	chr5:40679490-40679852	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr5:40679471-40679905	A549	lung:	n/a	n/a
3	BCL3	chr5:40678908-40679451	A549	lung:	n/a	n/a
4	BHLHE40	chr5:40679517-40679848	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:40679654-40679696	K562	blood:	n/a	n/a
6	BRCA1	chr5:40678232-40680046	Hela-S3	cervix:	n/a	chr5:40678413-40678420
7	CCNT2	chr5:40679695-40680125	K562	blood:	n/a	n/a
8	CEBPB	chr5:40678555-40679069	A549	lung:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
9	CEBPB	chr5:40678184-40680090	Hela-S3	cervix:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
10	CEBPB	chr5:40678652-40679420	IMR90	lung:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
11	CEBPB	chr5:40678702-40679035	MCF-7	breast:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
12	CEBPB	chr5:40678699-40679023	ECC-1	luminal epithelium:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
13	CEBPB	chr5:40678612-40679131	MCF-7	breast:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
14	CEBPB	chr5:40678671-40678992	K562	blood:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
15	CEBPB	chr5:40678688-40679020	HepG2	liver:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
16	CEBPB	chr5:40678667-40679358	A549	lung:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
17	CEBPB	chr5:40679137-40679473	MCF-7	breast:	n/a	n/a
18	CEBPB	chr5:40678709-40679279	H1-hESC	embryonic stem cell:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
19	CHD1	chr5:40679491-40679806	GM12878	blood:	n/a	n/a
20	CHD1	chr5:40680604-40680768	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr5:40679175-40679715	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr5:40678769-40680438	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr5:40680077-40680938	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr5:40679483-40680112	A549	lung:	n/a	n/a
25	CREB1	chr5:40679062-40679441	A549	lung:	n/a	n/a
26	CTBP2	chr5:40679949-40682335	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr5:40681100-40681250	AG10803	skin:	n/a	n/a
28	CTCF	chr5:40681120-40681270	HPF	lung:	n/a	n/a
29	CTCF	chr5:40681100-40681261	GM10248	blood:	n/a	n/a
30	CTCF	chr5:40680980-40681130	HFF-Myc	foreskin:	n/a	n/a
31	CTCF	chr5:40679880-40680030	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr5:40679920-40680070	AG04449	skin:	n/a	n/a
33	CTCF	chr5:40681120-40681270	SAEC	small airway:	n/a	n/a
34	CTCF	chr5:40681120-40681270	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr5:40680580-40680730	GM12874	blood:	n/a	n/a
36	CTCF	chr5:40681080-40681230	GM12868	blood:	n/a	n/a
37	CTCF	chr5:40681000-40681150	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr5:40681140-40681290	GM12872	blood:	n/a	n/a
39	CTCF	chr5:40681100-40681250	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr5:40681140-40681290	GM12866	blood:	n/a	n/a
41	CTCF	chr5:40681140-40681290	GM12873	blood:	n/a	n/a
42	CTCF	chr5:40681120-40681270	GM12875	blood:	n/a	n/a
43	CTCF	chr5:40680820-40680970	HEK293	kidney:	n/a	n/a
44	CTCF	chr5:40681080-40681230	NHEK	skin:	n/a	n/a
45	CTCF	chr5:40681040-40681190	GM12869	blood:	n/a	n/a
46	CTCF	chr5:40679266-40679308	A549	lung:	n/a	n/a
47	CTCF	chr5:40680780-40680930	GM12871	blood:	n/a	n/a
48	CTCF	chr5:40681040-40681190	HCM	heart:	n/a	n/a
49	CTCF	chr5:40681100-40681250	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr5:40681100-40681250	HL-60	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:40680416-40680466	BE2_C	brain:	n/a
2	chr5:40680416-40680466	BE2_C	brain:	n/a
3	chr5:40680550-40680600	A549	lung:	n/a
4	chr5:40681137-40681187	AG10803	skin:	n/a
5	chr5:40679966-40680016	IMR90	lung:	fetal
6	chr5:40679733-40679783	HAEpiC	amniotic membrane:	n/a
7	chr5:40680033-40680083	NB4	blood:	n/a
8	chr5:40679849-40679899	U87	brain:	n/a
9	chr5:40679636-40679686	T-47D	breast:	n/a
10	chr5:40680039-40680089	NB4	blood:	n/a
11	chr5:40679832-40679882	H1-hESC	embryonic stem cell:	embryo
12	chr5:40680416-40680466	AG10803	skin:	n/a
13	chr5:40680670-40680720	NB4	blood:	n/a
14	chr5:40679760-40679810	U87	brain:	n/a
15	chr5:40680550-40680600	HAEpiC	amniotic membrane:	n/a
16	chr5:40679832-40679882	HCPEpiC	choroid plexus:	n/a
17	chr5:40679165-40679215	HPAEpiC	pulmonary alveolar:	n/a
18	chr5:40680670-40680720	AG04449	skin:	fetal
19	chr5:40680039-40680089	AoSMC	blood vessel:	n/a
20	chr5:40679849-40679899	AoSMC	blood vessel:	n/a
21	chr5:40679165-40679215	AG09309	skin:	n/a
22	chr5:40679863-40679913	AG04449	skin:	fetal
23	chr5:40679733-40679783	NH-A	brain:	n/a
24	chr5:40679966-40680016	AG09309	skin:	n/a
25	chr5:40679849-40679899	MCF10A-Er-Src	breast:	n/a
26	chr5:40679182-40679232	AoSMC	blood vessel:	n/a
27	chr5:40679182-40679232	HUVEC	blood vessel:	n/a
28	chr5:40679760-40679810	Hela-S3	cervix:	n/a
29	chr5:40680416-40680466	RPTEC	kidney:	n/a
30	chr5:40679182-40679232	U87	brain:	n/a
31	chr5:40679863-40679913	SAEC	small airway:	n/a
32	chr5:40680550-40680600	BE2_C	brain:	n/a
33	chr5:40679966-40680016	NH-A	brain:	n/a
34	chr5:40679966-40680016	NT2-D1	testis:	n/a
35	chr5:40679733-40679783	AG10803	skin:	n/a
36	chr5:40679863-40679913	AG09309	skin:	n/a
37	chr5:40679182-40679232	T-47D	breast:	n/a
38	chr5:40680039-40680089	A549	lung:	n/a
39	chr5:40679182-40679232	BE2_C	brain:	n/a
40	chr5:40680550-40680600	SK-N-MC	brain:	n/a
41	chr5:40680670-40680720	PFSK-1	brain:	n/a
42	chr5:40679760-40679810	AoSMC	blood vessel:	n/a
43	chr5:40679849-40679899	BJ	skin:	n/a
44	chr5:40679863-40679913	HCT-116	colon:	n/a
45	chr5:40681137-40681187	GM12892	blood:	n/a
46	chr5:40680670-40680720	PrEC	prostate:	n/a
47	chr5:40679760-40679810	HCPEpiC	choroid plexus:	n/a
48	chr5:40679760-40679810	HRCEpiC	kidney:	n/a
49	chr5:40681137-40681187	GM19239	blood:	n/a
50	chr5:40680670-40680720	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:43453677..43454419-chr5:40679281..40680059,2	NB4	blood:
2	chr5:40673402..40675876-chr5:40676322..40679263,4	K562	blood:
3	chr14:75745262..75745853-chr5:40678732..40679322,2	Hela-S3	cervix:
4	chr5:40678741..40679756-chr6:26123548..26124204,3	Hela-S3	cervix:
5	chr3:150480176..150481089-chr5:40680039..40680660,2	Hela-S3	cervix:
6	chr17:43224484..43225221-chr5:40678825..40679523,2	NB4	blood:
7	chr20:62259613..62260132-chr5:40679006..40679597,2	Hela-S3	cervix:
8	chr1:36235070..36236025-chr5:40679016..40679937,2	Hela-S3	cervix:
9	chr19:55896877..55897816-chr5:40679285..40679925,2	Hela-S3	cervix:
10	chr15:31619156..31619701-chr5:40678819..40679598,2	Hela-S3	cervix:
11	chr12:52444777..52445765-chr5:40679251..40679886,2	Hela-S3	cervix:
12	chr11:62608481..62609314-chr5:40678890..40679963,4	Hela-S3	cervix:
13	chr5:40678654..40679643-chr5:89705625..89706304,2	NB4	blood:
14	chr16:103497..104162-chr5:40679412..40680348,2	Hela-S3	cervix:
15	chr14:75746315..75746996-chr5:40679492..40680585,3	Hela-S3	cervix:
16	chr2:204103696..204104264-chr5:40678600..40679556,2	Hela-S3	cervix:
17	chr15:59225159..59225758-chr5:40679380..40680198,2	Hela-S3	cervix:
18	chr5:40677072..40679518-chr5:40680792..40683406,4	MCF-7	breast:
19	chr5:40679791..40680505-chr9:140135439..140136378,2	Hela-S3	cervix:
20	chr20:44563060..44564177-chr5:40679045..40679695,3	Hela-S3	cervix:
21	chr19:42756164..42759141-chr5:40680173..40681787,2	MCF-7	breast:
22	chr5:40679274..40679984-chr7:27778984..27779514,2	Hela-S3	cervix:
23	chr1:149223620..149224423-chr5:40679508..40680359,2	MCF-7	breast:
24	chr1:174968214..174968853-chr5:40679191..40679960,2	Hela-S3	cervix:
25	chr2:85822216..85823096-chr5:40679131..40679668,2	Hela-S3	cervix:
26	chr14:94547017..94547649-chr5:40678640..40679465,2	Hela-S3	cervix:
27	chr5:40505949..40508818-chr5:40677222..40679235,2	MCF-7	breast:
28	chr11:62358977..62359711-chr5:40679405..40680068,2	NB4	blood:
29	chr2:209119316..209119842-chr5:40679091..40679725,2	Hela-S3	cervix:
30	chr19:17448276..17448931-chr5:40679198..40679839,2	Hela-S3	cervix:
31	chr5:40679443..40679992-chrX:135180311..135180826,2	NB4	blood:
32	chr14:64970114..64971112-chr5:40679140..40679771,2	Hela-S3	cervix:
33	chr1:155023041..155023664-chr5:40678966..40679570,2	Hela-S3	cervix:
34	chr5:40679393..40679913-chr7:112090483..112090996,2	Hela-S3	cervix:
35	chr15:65321890..65322402-chr5:40678654..40679608,2	NB4	blood:
36	chr17:39844981..39845752-chr5:40679190..40679932,2	Hela-S3	cervix:
37	chr11:68039254..68040142-chr5:40679338..40680207,2	Hela-S3	cervix:
38	chr1:242011208..242011713-chr5:40678933..40679886,2	Hela-S3	cervix:

Variant related genes	Relation type
PTGER4	TF binding region
PTGER4	CpG island
ENSG00000089775	chromatin interactions
ENSG00000168894	chromatin interactions
ENSG00000116161	chromatin interactions
ENSG00000126804	chromatin interactions
ENSG00000231513	chromatin interactions
ENSG00000255647	chromatin interactions
ENSG00000089737	chromatin interactions
ENSG00000255508	chromatin interactions
ENSG00000174371	chromatin interactions
ENSG00000006652	chromatin interactions
ENSG00000138413	chromatin interactions
ENSG00000186834	chromatin interactions
ENSG00000152518	chromatin interactions
ENSG00000130299	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000161980	chromatin interactions
ENSG00000165948	chromatin interactions
ENSG00000171522	chromatin interactions
ENSG00000092853	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000149016	chromatin interactions
ENSG00000171067	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000143537	chromatin interactions
ENSG00000100982	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000119004	chromatin interactions
ENSG00000103707	chromatin interactions
ENSG00000137776	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000106052	chromatin interactions
ENSG00000161981	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs45550437	chr5:40678688-40678689	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs45536040	chr5:40678808-40678809	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs199969273	chr5:40678855-40678856	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs200321518	chr5:40678872-40678873	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs545150675	chr5:40678918-40678919	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs564016027	chr5:40678928-40678929	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs192813445	chr5:40678985-40678986	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs542627787	chr5:40679013-40679014	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs149921064	chr5:40679035-40679036	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs145003791	chr5:40679103-40679104	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs184314951	chr5:40679136-40679137	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs571319690	chr5:40679215-40679216	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
13	rs45498996	chr5:40679231-40679232	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs111670199	chr5:40679274-40679275	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
15	rs372853986	chr5:40679331-40679332	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
16	rs541650464	chr5:40679349-40679350	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
17	rs143931103	chr5:40679350-40679351	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
18	rs145882106	chr5:40679361-40679362	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
19	rs373410855	chr5:40679368-40679369	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
20	rs375749727	chr5:40679424-40679425	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
21	rs369254623	chr5:40679458-40679459	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
22	rs149832627	chr5:40679470-40679471	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
23	rs45437592	chr5:40679498-40679499	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	32 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs555767615	chr5:40679530-40679531	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
25	rs567311963	chr5:40679532-40679533	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
26	rs386687507	chr5:40679567-40679568	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
27	rs369161656	chr5:40679606-40679607	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
28	rs4635971	chr5:40679629-40679630	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
29	rs45454692	chr5:40679639-40679640	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
30	rs577675529	chr5:40679674-40679675	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
31	rs13186505	chr5:40679688-40679689	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs557243172	chr5:40679757-40679758	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
33	rs45535631	chr5:40679777-40679778	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10039983	chr5:40679789-40679790	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs45613037	chr5:40679845-40679846	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	mRNA abundance
36	rs528099331	chr5:40679857-40679858	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
37	rs540197140	chr5:40679871-40679872	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
38	rs564988207	chr5:40679958-40679959	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs142215717	chr5:40679962-40679963	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs550780445	chr5:40679967-40679968	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs568944705	chr5:40680002-40680003	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs377397109	chr5:40680093-40680094	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs530042397	chr5:40680168-40680169	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs548183052	chr5:40680172-40680173	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs566382043	chr5:40680264-40680265	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs11548822	chr5:40680317-40680318	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs534705476	chr5:40680390-40680391	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs532138571	chr5:40680414-40680415	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs551761096	chr5:40680451-40680452	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs571426843	chr5:40680452-40680453	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40675200-40678800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:40675800-40679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:40676000-40678800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr5:40676000-40679000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:40676000-40679000	Weak transcription	Esophagus	oesophagus
6	chr5:40676400-40678800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:40676800-40679200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:40676800-40679200	Flanking Active TSS	HUVEC	blood vessel
9	chr5:40677000-40679000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:40677000-40679000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr5:40677400-40678800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:40677400-40678800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:40677400-40679000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:40677400-40679000	Weak transcription	Gastric	stomach
15	chr5:40677400-40679000	Weak transcription	Pancreas	Pancrea
16	chr5:40677400-40679000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:40677400-40679000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:40677400-40680800	Active TSS	Duodenum Mucosa	Duodenum
19	chr5:40677400-40681000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr5:40677600-40679000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:40677600-40679000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:40677600-40679200	Weak transcription	Small Intestine	intestine
23	chr5:40677600-40679400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr5:40677800-40679400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr5:40677800-40680200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr5:40677800-40681000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr5:40678000-40679400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr5:40678200-40678800	Enhancers	Rectal Smooth Muscle	rectum
29	chr5:40678200-40678800	Flanking Active TSS	Hela-S3	cervix
30	chr5:40678200-40678800	Flanking Active TSS	HMEC	breast
31	chr5:40678200-40678800	Flanking Active TSS	NHDF-Ad	bronchial
32	chr5:40678200-40679200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr5:40678200-40679400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:40678200-40679400	Bivalent/Poised TSS	Fetal Kidney	kidney
35	chr5:40678200-40680400	Active TSS	Stomach Smooth Muscle	stomach
36	chr5:40678200-40680800	Active TSS	Dnd41	blood
37	chr5:40678400-40678800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:40678400-40678800	Bivalent Enhancer	GM12878-XiMat	blood
39	chr5:40678400-40678800	Active TSS	NHLF	lung
40	chr5:40678400-40679000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr5:40678400-40679000	Active TSS	Fetal Muscle Leg	muscle
42	chr5:40678400-40679000	Active TSS	Fetal Thymus	thymus
43	chr5:40678400-40679200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr5:40678400-40679400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr5:40678400-40679400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr5:40678400-40680800	Active TSS	A549	lung
47	chr5:40678400-40681000	Active TSS	Fetal Intestine Small	intestine
48	chr5:40678400-40681000	Active TSS	Thymus	Thymus
49	chr5:40678400-40681400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:40678400-40682000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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