Variant report

Variant	esv3406936
Chromosome Location	chr5:14142577-14145125
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	chr5:14144938-14144966	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:14143077-14143562	HepG2	liver:	n/a	n/a
3	ATF2	chr5:14145080-14145609	GM12878	blood:	n/a	n/a
4	ATF2	chr5:14145113-14145535	GM12878	blood:	n/a	n/a
5	BACH1	chr5:14143037-14143597	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr5:14144398-14144990	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr5:14145114-14145573	A549	lung:	n/a	chr5:14145205-14145218
8	BCL3	chr5:14143018-14143673	GM12878	blood:	n/a	chr5:14143604-14143613 chr5:14143475-14143488 chr5:14143474-14143487
9	BCL3	chr5:14142882-14143398	A549	lung:	n/a	n/a
10	BCLAF1	chr5:14145114-14145577	GM12878	blood:	n/a	chr5:14145205-14145218
11	BCLAF1	chr5:14143992-14144718	GM12878	blood:	n/a	chr5:14144181-14144194 chr5:14144351-14144360 chr5:14144106-14144119 chr5:14144200-14144213 chr5:14144185-14144198
12	BCLAF1	chr5:14142614-14143373	GM12878	blood:	n/a	n/a
13	BCLAF1	chr5:14145089-14145716	GM12878	blood:	n/a	chr5:14145205-14145218
14	BHLHE40	chr5:14144461-14145538	GM12878	blood:	n/a	n/a
15	BHLHE40	chr5:14142954-14143608	HepG2	liver:	n/a	chr5:14143474-14143490 chr5:14143558-14143574 chr5:14143567-14143583
16	BHLHE40	chr5:14142567-14143793	GM12878	blood:	n/a	chr5:14143474-14143490 chr5:14143558-14143574 chr5:14143567-14143583
17	BHLHE40	chr5:14144767-14144982	HepG2	liver:	n/a	n/a
18	BHLHE40	chr5:14143205-14143641	K562	blood:	n/a	chr5:14143474-14143490 chr5:14143558-14143574 chr5:14143567-14143583
19	BRCA1	chr5:14142760-14143520	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr5:14144821-14145058	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr5:14143174-14143429	GM12878	blood:	n/a	n/a
22	BRCA1	chr5:14144368-14144402	GM12878	blood:	n/a	n/a
23	BRCA1	chr5:14144776-14145869	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr5:14144788-14145070	HepG2	liver:	n/a	n/a
25	BRCA1	chr5:14144817-14145106	GM12878	blood:	n/a	n/a
26	BRCA1	chr5:14142782-14143164	H1-hESC	embryonic stem cell:	n/a	n/a
27	CBX3	chr5:14142880-14143279	K562	blood:	n/a	n/a
28	CCNT2	chr5:14143883-14144187	K562	blood:	n/a	n/a
29	CCNT2	chr5:14142989-14143647	K562	blood:	n/a	chr5:14143427-14143436 chr5:14143278-14143287 chr5:14143273-14143282
30	CEBPB	chr5:14143007-14143569	Hela-S3	cervix:	n/a	n/a
31	CHD1	chr5:14145102-14146013	GM12878	blood:	n/a	n/a
32	CHD1	chr5:14142902-14143644	GM12878	blood:	n/a	chr5:14143427-14143437
33	CHD1	chr5:14144011-14144890	GM12878	blood:	n/a	chr5:14144154-14144164
34	CHD1	chr5:14143996-14144685	H1-hESC	embryonic stem cell:	n/a	chr5:14144154-14144164
35	CHD1	chr5:14142844-14143368	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr5:14144759-14145054	H1-hESC	embryonic stem cell:	n/a	chr5:14144921-14144931 chr5:14144974-14144984
37	CHD2	chr5:14143917-14144094	GM12878	blood:	n/a	n/a
38	CHD2	chr5:14142652-14142654	HepG2	liver:	n/a	n/a
39	CHD2	chr5:14143387-14143586	K562	blood:	n/a	chr5:14143427-14143437
40	CHD2	chr5:14142989-14143503	H1-hESC	embryonic stem cell:	n/a	chr5:14143427-14143437
41	CHD2	chr5:14142952-14145681	Hela-S3	cervix:	n/a	chr5:14144154-14144164 chr5:14144921-14144931 chr5:14143427-14143437 chr5:14144974-14144984
42	CHD2	chr5:14144407-14145687	GM12878	blood:	n/a	chr5:14144921-14144931 chr5:14144974-14144984
43	CHD2	chr5:14142639-14143568	GM12878	blood:	n/a	chr5:14143427-14143437
44	CHD2	chr5:14143136-14143547	HepG2	liver:	n/a	chr5:14143427-14143437
45	CHD2	chr5:14144549-14145167	HepG2	liver:	n/a	chr5:14144921-14144931 chr5:14144974-14144984
46	CREB1	chr5:14142760-14143466	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr5:14142815-14143715	A549	lung:	n/a	n/a
48	CREB1	chr5:14143832-14144501	A549	lung:	n/a	n/a
49	CREB1	chr5:14144665-14145100	A549	lung:	n/a	n/a
50	CREB1	chr5:14142798-14143335	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:14144123-14144173	T-47D	breast:	n/a
2	chr5:14143221-14143271	GM12878	blood:	n/a
3	chr5:14142909-14142959	NB4	blood:	n/a
4	chr5:14143207-14143257	HCPEpiC	choroid plexus:	n/a
5	chr5:14144123-14144173	T-47D	breast:	n/a
6	chr5:14143221-14143271	GM12878	blood:	n/a
7	chr5:14142909-14142959	NB4	blood:	n/a
8	chr5:14143207-14143257	HCPEpiC	choroid plexus:	n/a
9	chr5:14143304-14143354	HPAEpiC	pulmonary alveolar:	n/a
10	chr5:14143207-14143257	LNCaP	prostate:	n/a
11	chr5:14142574-14142624	HRE	kidney:	n/a
12	chr5:14143207-14143257	NH-A	brain:	n/a
13	chr5:14144769-14144819	HCF	heart:	n/a
14	chr5:14144425-14144475	Caco-2	colon:	n/a
15	chr5:14142909-14142959	HUVEC	blood vessel:	n/a
16	chr5:14143221-14143271	HRE	kidney:	n/a
17	chr5:14143207-14143257	PANC-1	pancreas:	n/a
18	chr5:14142909-14142959	HEK293	kidney:	embryo
19	chr5:14144425-14144475	HL-60	blood:	n/a
20	chr5:14143304-14143354	AG09309	skin:	n/a
21	chr5:14143221-14143271	HCM	heart:	n/a
22	chr5:14144425-14144475	NT2-D1	testis:	n/a
23	chr5:14143207-14143257	Hepatocyte	liver:	n/a
24	chr5:14143221-14143271	HEEpiC	esophagus:	n/a
25	chr5:14144769-14144819	HCPEpiC	choroid plexus:	n/a
26	chr5:14144769-14144819	HUVEC	blood vessel:	n/a
27	chr5:14144425-14144475	SK-N-SH_RA	brain:	n/a
28	chr5:14142909-14142959	GM19239	blood:	n/a
29	chr5:14142909-14142959	GM12878	blood:	n/a
30	chr5:14144425-14144475	Hepatocyte	liver:	n/a
31	chr5:14142574-14142624	HCPEpiC	choroid plexus:	n/a
32	chr5:14144425-14144475	HNPCEpiC	eye:	n/a
33	chr5:14142574-14142624	MCF10A-Er-Src	breast:	n/a
34	chr5:14142574-14142624	PANC-1	pancreas:	n/a
35	chr5:14143221-14143271	ProgFib	skin:	n/a
36	chr5:14144769-14144819	HNPCEpiC	eye:	n/a
37	chr5:14143304-14143354	HL-60	blood:	n/a
38	chr5:14144425-14144475	GM06990	blood:	n/a
39	chr5:14143304-14143354	K562	blood:	n/a
40	chr5:14144123-14144173	HPAEpiC	pulmonary alveolar:	n/a
41	chr5:14143221-14143271	RPTEC	kidney:	n/a
42	chr5:14142909-14142959	Hela-S3	cervix:	n/a
43	chr5:14143207-14143257	HRPEpiC	eye:	n/a
44	chr5:14143221-14143271	H1-hESC	embryonic stem cell:	embryo
45	chr5:14143304-14143354	HIPEpiC	eye:	n/a
46	chr5:14144425-14144475	IMR90	lung:	fetal
47	chr5:14144769-14144819	HL-60	blood:	n/a
48	chr5:14144123-14144173	HEK293	kidney:	embryo
49	chr5:14144769-14144819	AoSMC	blood vessel:	n/a
50	chr5:14144123-14144173	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:4634523..4635103-chr5:14143457..14144055,2	Hela-S3	cervix:
2	chr3:57583020..57583930-chr5:14143322..14144316,2	Hela-S3	cervix:
3	chr5:14143682..14146659-chr5:14664431..14666395,2	MCF-7	breast:
4	chr5:14142354..14143390-chr5:14269900..14270893,3	MCF-7	breast:
5	chr17:57784335..57785018-chr5:14144857..14145636,2	Hela-S3	cervix:
6	chr5:14071467..14073909-chr5:14141543..14143716,2	MCF-7	breast:
7	chr11:62572428..62573154-chr5:14143009..14143666,2	Hela-S3	cervix:
8	chr4:169278815..169279321-chr5:14144606..14145455,2	MCF-7	breast:
9	chr11:58345501..58346207-chr5:14143065..14143693,2	Hela-S3	cervix:
10	chr17:59476086..59478200-chr5:14142004..14143977,2	MCF-7	breast:
11	chr5:14144373..14146199-chr5:14161093..14165052,4	MCF-7	breast:
12	chr5:14108397..14109018-chr5:14142719..14143457,3	MCF-7	breast:
13	chr5:14142419..14144574-chr9:37118842..37121791,2	MCF-7	breast:
14	chr5:14139271..14141119-chr5:14141229..14143217,3	MCF-7	breast:
15	chr5:14143107..14145345-chr5:14183034..14185852,4	MCF-7	breast:
16	chr17:73150132..73150671-chr5:14143178..14143957,2	Hela-S3	cervix:
17	chr5:14141771..14143754-chr5:14229153..14231385,2	MCF-7	breast:
18	chr15:89630646..89631439-chr5:14143493..14144363,2	Hela-S3	cervix:

Variant related genes	Relation type
TRIO	TF binding region
TRIO	CpG island
ENSG00000154124	chromatin interactions
ENSG00000038382	chromatin interactions
ENSG00000141378	chromatin interactions
ENSG00000147905	chromatin interactions
ENSG00000168374	chromatin interactions
ENSG00000140526	chromatin interactions
ENSG00000110031	chromatin interactions
ENSG00000162231	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000161920	chromatin interactions
ENSG00000272146	chromatin interactions
ENSG00000261360	chromatin interactions
ENSG00000189159	chromatin interactions
ENSG00000261407	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000267131	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563874482	chr5:14142589-14142590	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs542735362	chr5:14142606-14142607	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs561072536	chr5:14142631-14142632	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs528644981	chr5:14142635-14142636	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs3849082	chr5:14142643-14142644	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552975599	chr5:14142670-14142671	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs571903234	chr5:14142687-14142688	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs532695369	chr5:14142753-14142754	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs550507400	chr5:14142765-14142766	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs568889110	chr5:14142825-14142826	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs376823367	chr5:14142851-14142852	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs554684488	chr5:14142916-14142917	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs143988469	chr5:14143045-14143046	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs373242370	chr5:14143050-14143051	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs113964125	chr5:14143084-14143085	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs558520178	chr5:14143103-14143104	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs577020777	chr5:14143116-14143117	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs537760948	chr5:14143160-14143161	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs531320625	chr5:14143187-14143188	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs557295053	chr5:14143206-14143207	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs575212626	chr5:14143207-14143208	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs542645624	chr5:14143208-14143209	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs561036228	chr5:14143217-14143218	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs573046070	chr5:14143221-14143222	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs540773637	chr5:14143283-14143284	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs565345136	chr5:14143285-14143286	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs376145978	chr5:14143305-14143306	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs369301999	chr5:14143306-14143307	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs13180741	chr5:14143354-14143355	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs13180743	chr5:14143356-14143357	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs189558765	chr5:14143364-14143365	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs551016187	chr5:14143369-14143370	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs563205125	chr5:14143428-14143429	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs372701489	chr5:14143429-14143430	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs529700855	chr5:14143449-14143450	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs548249585	chr5:14143540-14143541	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs566570633	chr5:14143901-14143902	Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs11749516	chr5:14144117-14144118	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs533655148	chr5:14144133-14144134	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs375721801	chr5:14144186-14144187	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs552309654	chr5:14144194-14144195	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs370279692	chr5:14144232-14144233	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs538071189	chr5:14144273-14144274	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs556024141	chr5:14144349-14144350	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs374338962	chr5:14144356-14144357	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs249493	chr5:14144399-14144400	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554543811	chr5:14144400-14144401	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs191797394	chr5:14144401-14144402	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs555799755	chr5:14144420-14144421	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs540384839	chr5:14144428-14144429	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Intracranial aneurysm	16715129	CNVD

Chromatin state (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14135600-14142600	Weak transcription	Lung	lung
2	chr5:14140600-14142600	Enhancers	Fetal Heart	heart
3	chr5:14141600-14142600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:14142000-14142800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:14142000-14143000	Flanking Active TSS	HSMMtube	muscle
6	chr5:14142000-14145600	Active TSS	HepG2	liver
7	chr5:14142000-14146000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:14142200-14142600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:14142200-14142600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:14142200-14142600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:14142200-14142600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr5:14142200-14142600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr5:14142200-14142600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:14142200-14142600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr5:14142200-14142600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr5:14142200-14142600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr5:14142200-14142600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:14142200-14142600	Enhancers	Ovary	ovary
19	chr5:14142200-14142600	Flanking Active TSS	A549	lung
20	chr5:14142200-14142800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:14142200-14142800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:14142200-14142800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr5:14142200-14142800	Flanking Active TSS	NH-A	brain
24	chr5:14142200-14143000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:14142200-14143000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:14142200-14143000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:14142200-14143000	Flanking Active TSS	HUVEC	blood vessel
28	chr5:14142200-14145400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:14142200-14145600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:14142200-14145800	Active TSS	GM12878-XiMat	blood
31	chr5:14142200-14146200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr5:14142400-14142600	Active TSS	H1 Cell Line	embryonic stem cell
33	chr5:14142400-14142600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:14142400-14142600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr5:14142400-14142600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr5:14142400-14142600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr5:14142400-14142600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:14142400-14142600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
39	chr5:14142400-14142600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:14142400-14142600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:14142400-14142600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:14142400-14142600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:14142400-14142600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr5:14142400-14142600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:14142400-14142600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:14142400-14142600	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr5:14142400-14142600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr5:14142400-14142600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
49	chr5:14142400-14142600	Active TSS	Fetal Muscle Trunk	muscle
50	chr5:14142400-14142600	Enhancers	Placenta	Placenta

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