Variant report

Variant	esv2422395
Chromosome Location	chr5:117442806-117887910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:833)
CpG islands
(count:612)
Chromatin interactive
region (count:36)
LncRNA
region (count:57)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:833 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:117884442-117884668	HepG2	liver:	n/a	n/a
2	ATF1	chr5:117540315-117540489	K562	blood:	n/a	n/a
3	ATF2	chr5:117572082-117572630	GM12878	blood:	n/a	n/a
4	BACH1	chr5:117458750-117458850	K562	blood:	n/a	n/a
5	BACH1	chr5:117462069-117462133	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr5:117661095-117661110	K562	blood:	n/a	n/a
7	BACH1	chr5:117647727-117647789	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr5:117451659-117451783	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr5:117753305-117753649	GM12878	blood:	n/a	n/a
10	BATF	chr5:117619990-117620322	GM12878	blood:	n/a	n/a
11	BATF	chr5:117620020-117620314	GM12878	blood:	n/a	n/a
12	BATF	chr5:117753385-117753613	GM12878	blood:	n/a	n/a
13	BCL3	chr5:117799303-117799522	GM12878	blood:	n/a	n/a
14	BHLHE40	chr5:117784388-117784436	GM12878	blood:	n/a	n/a
15	BHLHE40	chr5:117572143-117572515	GM12878	blood:	n/a	n/a
16	BHLHE40	chr5:117842348-117842543	GM12878	blood:	n/a	n/a
17	BRCA1	chr5:117784131-117784246	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr5:117827793-117827904	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr5:117587070-117587579	HCT-116	colon:	n/a	n/a
20	CBX3	chr5:117461853-117462358	HCT-116	colon:	n/a	n/a
21	CEBPB	chr5:117797913-117798203	MCF-7	breast:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
22	CEBPB	chr5:117797959-117798295	Hela-S3	cervix:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
23	CEBPB	chr5:117783848-117784184	HepG2	liver:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
24	CEBPB	chr5:117767168-117767318	HepG2	liver:	n/a	n/a
25	CEBPB	chr5:117783921-117784179	Hela-S3	cervix:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
26	CEBPB	chr5:117797940-117798316	IMR90	lung:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
27	CEBPB	chr5:117884396-117884796	MCF-7	breast:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
28	CEBPB	chr5:117499546-117499809	A549	lung:	n/a	chr5:117499709-117499722 chr5:117499668-117499681 chr5:117499710-117499721 chr5:117499709-117499720
29	CEBPB	chr5:117488538-117488658	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr5:117670914-117671189	A549	lung:	n/a	chr5:117671060-117671071
31	CEBPB	chr5:117797945-117798318	K562	blood:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
32	CEBPB	chr5:117510392-117510721	H1-hESC	embryonic stem cell:	n/a	chr5:117510553-117510562 chr5:117510551-117510564 chr5:117510553-117510562 chr5:117510551-117510562 chr5:117510553-117510562 chr5:117510552-117510563 chr5:117510553-117510562 chr5:117510551-117510564
33	CEBPB	chr5:117797944-117798311	A549	lung:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
34	CEBPB	chr5:117510385-117510730	HepG2	liver:	n/a	chr5:117510553-117510562 chr5:117510551-117510564 chr5:117510553-117510562 chr5:117510551-117510562 chr5:117510553-117510562 chr5:117510552-117510563 chr5:117510553-117510562 chr5:117510551-117510564
35	CEBPB	chr5:117670935-117671234	HepG2	liver:	n/a	chr5:117671060-117671071
36	CEBPB	chr5:117797934-117798312	H1-hESC	embryonic stem cell:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
37	CEBPB	chr5:117783863-117784175	A549	lung:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
38	CEBPB	chr5:117456033-117456038	A549	lung:	n/a	n/a
39	CEBPB	chr5:117581079-117581323	HepG2	liver:	n/a	chr5:117581160-117581171
40	CEBPB	chr5:117884333-117884820	HCT-116	colon:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
41	CEBPB	chr5:117627601-117627904	IMR90	lung:	n/a	chr5:117627762-117627773
42	CEBPB	chr5:117884404-117884771	HCT-116	colon:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
43	CEBPB	chr5:117797999-117798207	ECC-1	luminal epithelium:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
44	CEBPB	chr5:117884508-117884707	HepG2	liver:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
45	CEBPB	chr5:117581014-117581285	A549	lung:	n/a	chr5:117581160-117581171
46	CEBPB	chr5:117578882-117579162	H1-hESC	embryonic stem cell:	n/a	chr5:117579136-117579147 chr5:117579136-117579149 chr5:117579136-117579147 chr5:117579136-117579149 chr5:117579136-117579149
47	CEBPB	chr5:117654150-117654245	A549	lung:	n/a	chr5:117654199-117654212
48	CEBPB	chr5:117581099-117581191	K562	blood:	n/a	chr5:117581160-117581171
49	CEBPB	chr5:117884436-117884805	Hela-S3	cervix:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
50	CEBPB	chr5:117783854-117784181	IMR90	lung:	n/a	chr5:117784028-117784041 chr5:117784028-117784039

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:117532041-117532091	HUVEC	blood vessel:	n/a
2	chr5:117543681-117543731	MCF-7	breast:	n/a
3	chr5:117532041-117532091	HUVEC	blood vessel:	n/a
4	chr5:117543681-117543731	MCF-7	breast:	n/a
5	chr5:117543966-117544016	HUVEC	blood vessel:	n/a
6	chr5:117645500-117645550	RPTEC	kidney:	n/a
7	chr5:117532041-117532091	GM06990	blood:	n/a
8	chr5:117630841-117630891	HRCEpiC	kidney:	n/a
9	chr5:117617841-117617891	A549	lung:	n/a
10	chr5:117630841-117630891	ECC-1	luminal epithelium:	n/a
11	chr5:117543401-117543451	MCF10A-Er-Src	breast:	n/a
12	chr5:117822219-117822269	Caco-2	colon:	n/a
13	chr5:117617841-117617891	HMEC	breast:	n/a
14	chr5:117822219-117822269	HL-60	blood:	n/a
15	chr5:117822219-117822269	H1-hESC	embryonic stem cell:	embryo
16	chr5:117630841-117630891	AoSMC	blood vessel:	n/a
17	chr5:117532041-117532091	Caco-2	colon:	n/a
18	chr5:117543401-117543451	NHDF-neo	bronchial:	n/a
19	chr5:117532041-117532091	AoSMC	blood vessel:	n/a
20	chr5:117543401-117543451	U87	brain:	n/a
21	chr5:117630841-117630891	NH-A	brain:	n/a
22	chr5:117543681-117543731	HL-60	blood:	n/a
23	chr5:117543401-117543451	NHBE	bronchial:	n/a
24	chr5:117532041-117532091	A549	lung:	n/a
25	chr5:117630841-117630891	Hepatocyte	liver:	n/a
26	chr5:117822219-117822269	HEEpiC	esophagus:	n/a
27	chr5:117543401-117543451	HCM	heart:	n/a
28	chr5:117786381-117786431	Caco-2	colon:	n/a
29	chr5:117822219-117822269	HAEpiC	amniotic membrane:	n/a
30	chr5:117543681-117543731	SAEC	small airway:	n/a
31	chr5:117617841-117617891	GM19239	blood:	n/a
32	chr5:117786381-117786431	PFSK-1	brain:	n/a
33	chr5:117617841-117617891	BE2_C	brain:	n/a
34	chr5:117617841-117617891	Caco-2	colon:	n/a
35	chr5:117617841-117617891	RPTEC	kidney:	n/a
36	chr5:117543681-117543731	ProgFib	skin:	n/a
37	chr5:117543966-117544016	GM12891	blood:	n/a
38	chr5:117543966-117544016	NT2-D1	testis:	n/a
39	chr5:117630841-117630891	NT2-D1	testis:	n/a
40	chr5:117543681-117543731	HIPEpiC	eye:	n/a
41	chr5:117645500-117645550	MCF10A-Er-Src	breast:	n/a
42	chr5:117630841-117630891	SAEC	small airway:	n/a
43	chr5:117618514-117618564	SKMC	muscle:	n/a
44	chr5:117543401-117543451	SKMC	muscle:	n/a
45	chr5:117630841-117630891	CMK	blood:	n/a
46	chr5:117617841-117617891	SKMC	muscle:	n/a
47	chr5:117543401-117543451	HPAEpiC	pulmonary alveolar:	n/a
48	chr5:117786381-117786431	SK-N-SH	brain:	n/a
49	chr5:117822219-117822269	NT2-D1	testis:	n/a
50	chr5:117543401-117543451	LNCaP	prostate:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:117747668..117749268-chr5:117752112..117754605,2	K562	blood:
2	chr5:117662110..117664653-chr5:117666113..117667800,2	MCF-7	breast:
3	chr5:117499273..117500993-chr5:117501863..117504364,2	MCF-7	breast:
4	chr5:116790798..116792666-chr5:117532580..117535246,2	MCF-7	breast:
5	chr5:117501309..117503811-chr5:117506709..117509666,2	MCF-7	breast:
6	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:
7	chr5:117501309..117503811-chr5:117506709..117509666,2	MCF-7	breast:
8	chr5:117607162..117609228-chr5:117612634..117615234,2	MCF-7	breast:
9	chr5:116822600..116823429-chr5:117474971..117475497,2	MCF-7	breast:
10	chr14:81686696..81687602-chr5:117664674..117665194,3	HCT-116	colon:
11	chr19:45004428..45006019-chr5:117490682..117492182,2	MCF-7	breast:
12	chr5:117345254..117346267-chr5:117474942..117475858,13	MCF-7	breast:
13	chr5:117853508..117855086-chr5:117856732..117858837,2	K562	blood:
14	chr5:117747668..117749268-chr5:117752112..117754605,2	K562	blood:
15	chr5:117679557..117681634-chr5:117711905..117714203,2	K562	blood:
16	chr5:117499273..117500993-chr5:117501863..117504364,2	MCF-7	breast:
17	chr5:117573331..117574961-chr5:117577405..117579413,2	K562	blood:
18	chr5:117357636..117358157-chr5:117474927..117475609,2	MCF-7	breast:
19	chr5:117345305..117346227-chr5:117474940..117475818,10	MCF-7	breast:
20	chr5:117488562..117490420-chr5:117492195..117496132,3	MCF-7	breast:
21	chr5:117607162..117609228-chr5:117612634..117615234,2	MCF-7	breast:
22	chr5:117345305..117346362-chr5:117474865..117475949,14	MCF-7	breast:
23	chr5:117701000..117704455-chr5:117706374..117709409,3	MCF-7	breast:
24	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:
25	chr5:117564627..117566245-chr5:117569681..117572148,3	MCF-7	breast:
26	chr5:117853508..117855086-chr5:117856732..117858837,2	K562	blood:
27	chr5:117347018..117349596-chr5:117474146..117475861,2	MCF-7	breast:
28	chr5:117502319..117505069-chr5:118158604..118161182,2	K562	blood:
29	chr5:117679557..117681634-chr5:117711905..117714203,2	K562	blood:
30	chr5:117573331..117574961-chr5:117577405..117579413,2	K562	blood:
31	chr5:117564627..117566245-chr5:117569681..117572148,3	MCF-7	breast:
32	chr5:117662110..117664653-chr5:117666113..117667800,2	MCF-7	breast:
33	chr5:117584101..117585840-chr5:117595534..117597054,2	MCF-7	breast:
34	chr5:117701000..117704455-chr5:117706374..117709409,3	MCF-7	breast:
35	chr5:117488562..117490420-chr5:117492195..117496132,3	MCF-7	breast:
36	chr5:117584101..117585840-chr5:117595534..117597054,2	MCF-7	breast:

(count:57 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-3	chr5:117803997-117804129	NR_104610
2	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
3	lnc-DTWD2-3	chr5:117807758-117807884	NONHSAT103396
4	lnc-DTWD2-3	chr5:117810084-117810122	NONHSAT103400
5	lnc-DTWD2-10	chr5:117874482-117874658	l_3002_chr5:117837955-117925717_heart
6	lnc-DTWD2-3	chr5:117856867-117858541	NONHSAT103396
7	lnc-DTWD2-3	chr5:117881443-117881844	XLOC_004965
8	lnc-DTWD2-3	chr5:117881461-117881844	NONHSAT103403
9	lnc-DTWD2-3	chr5:117856867-117858541	NR_104610
10	lnc-DTWD2-3	chr5:117686667-117687202	NR_104610
11	lnc-DTWD2-3	chr5:117810067-117810122	NR_104610
12	lnc-DTWD2-3	chr5:117804776-117804843	NR_104610
13	lnc-DTWD2-10	chr5:117887243-117887411	l_3002_chr5:117837955-117925717_heart
14	lnc-DTWD2-3	chr5:117808544-117808601	NONHSAT103396
15	lnc-DTWD2-3	chr5:117808544-117808601	NR_104610
16	lnc-DTWD2-3	chr5:117810067-117810120	NONHSAT103396
17	lnc-DTWD2-3	chr5:117846583-117846759	NR_104610
18	lnc-DTWD2-3	chr5:117809227-117810122	XLOC_004965
19	lnc-DMXL1-4	chr5:117542415-117542666	XLOC_004524
20	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
21	lnc-DMXL1-4	chr5:117523160-117523290	XLOC_004524
22	lnc-DTWD2-3	chr5:117803997-117804129	NONHSAT103396
23	lnc-DTWD2-3	chr5:117807758-117807884	XLOC_004965
24	lnc-DTWD2-3	chr5:117859344-117859512	XLOC_004965
25	lnc-DMXL1-4	chr5:117601049-117601757	NR_104997
26	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
27	lnc-DTWD2-3	chr5:117856867-117858541	XLOC_004965
28	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103400
29	lnc-DMXL1-4	chr5:117523161-117523286	XLOC_004524
30	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
31	lnc-DTWD2-3	chr5:117859424-117859509	NONHSAT103401
32	lnc-DMXL1-9	chr5:117646168-117646321	ucscGeneNc_uc003krz_2
33	lnc-DTWD2-3	chr5:117859344-117859509	NR_104610
34	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
35	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103396
36	lnc-DTWD2-3	chr5:117810067-117810122	XLOC_004965
37	lnc-DMXL1-4	chr5:117542415-117542631	XLOC_004524
38	lnc-DTWD2-3	chr5:117808544-117808601	XLOC_004965
39	lnc-DTWD2-10	chr5:117886321-117886440	l_3002_chr5:117837955-117925717_heart
40	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
41	lnc-DTWD2-3	chr5:117686661-117687202	NONHSAT103396
42	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
43	lnc-DTWD2-3	chr5:117810057-117810122	XLOC_004965
44	lnc-DTWD2-3	chr5:117804776-117804843	NONHSAT103396
45	lnc-DTWD2-3	chr5:117804776-117804843	XLOC_004965
46	lnc-DTWD2-3	chr5:117856867-117857041	NONHSAT103400
47	lnc-DTWD2-3	chr5:117857424-117858532	NONHSAT103400
48	lnc-DTWD2-3	chr5:117881553-117881844	XLOC_004965
49	lnc-DTWD2-3	chr5:117803851-117804129	XLOC_004965
50	lnc-DMXL1-9	chr5:117647307-117648354	ucscGeneNc_uc003krz_2

No data

Variant related genes	Relation type
ENSG00000250427	TF binding region
ENSG00000249797	TF binding region
ENSG00000250427	CpG island
ENSG00000249797	CpG island
ENSG00000167384	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000248663	chromatin interactions
CEBPB	miRNA target sites
CEBPD	miRNA target sites
TAX1BP1	miRNA target sites
KRAS	miRNA target sites
CELSR3	miRNA target sites
CEBPZ	miRNA target sites

Extended variants
information (count: 10249 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:10249 , 50 per page) page: 1 2 3 4 5 6 7 ... 205

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576621419	chr5:117442810-117442811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545538379	chr5:117442815-117442816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186889483	chr5:117442872-117442873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572682470	chr5:117442885-117442886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74440064	chr5:117442904-117442905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116483148	chr5:117442905-117442906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529679523	chr5:117442921-117442922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549373538	chr5:117442923-117442924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs66599321	chr5:117442943-117442944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs147666127	chr5:117443025-117443026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192413953	chr5:117443045-117443046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567735462	chr5:117443049-117443050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565773551	chr5:117443124-117443125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142664070	chr5:117443129-117443130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544924483	chr5:117443130-117443131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113891342	chr5:117443142-117443143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183322821	chr5:117443143-117443144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556601579	chr5:117443161-117443162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528894195	chr5:117443183-117443184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576446351	chr5:117443196-117443197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538790618	chr5:117443224-117443225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559084286	chr5:117443234-117443235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187998879	chr5:117443247-117443248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6888462	chr5:117443307-117443308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192892388	chr5:117443316-117443317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574793184	chr5:117443375-117443376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114885877	chr5:117443399-117443400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376399820	chr5:117443416-117443417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566843669	chr5:117443429-117443430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562962041	chr5:117443442-117443443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6888957	chr5:117443443-117443444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138918446	chr5:117443451-117443452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551997547	chr5:117443465-117443466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539151059	chr5:117443471-117443472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149408870	chr5:117443491-117443492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528315788	chr5:117443515-117443516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548414035	chr5:117443528-117443529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568314987	chr5:117443558-117443559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537366876	chr5:117443607-117443608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs550181580	chr5:117443616-117443617	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs72780014	chr5:117443634-117443635	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566172424	chr5:117443635-117443636	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs4438913	chr5:117443655-117443656	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548141208	chr5:117443661-117443662	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs554762532	chr5:117443668-117443669	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs74828544	chr5:117443679-117443680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs543743267	chr5:117443701-117443702	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs148015618	chr5:117443739-117443740	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs142455277	chr5:117443764-117443765	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs564668623	chr5:117443765-117443766	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:469 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117441800-117446400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:117442000-117443600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:117443600-117445200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:117447800-117448000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr5:117449000-117449200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:117449200-117449400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:117451400-117451800	Enhancers	HMEC	breast
8	chr5:117451400-117452000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:117458000-117458400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr5:117458000-117458400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:117461600-117462400	Enhancers	HMEC	breast
12	chr5:117480600-117480800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:117491200-117492400	Enhancers	Fetal Lung	lung
14	chr5:117494400-117494800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:117494400-117494800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:117507800-117508200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:117518000-117518200	Enhancers	Fetal Lung	lung
18	chr5:117518000-117518400	Enhancers	Brain Germinal Matrix	brain
19	chr5:117518800-117520200	Weak transcription	Fetal Lung	lung
20	chr5:117520200-117520600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:117520200-117521400	Enhancers	Fetal Lung	lung
22	chr5:117520400-117521000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:117520600-117521000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:117520600-117521200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:117520800-117521200	Enhancers	Ovary	ovary
26	chr5:117523000-117523400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:117525200-117525800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:117529000-117529800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:117529400-117529800	Enhancers	Colon Smooth Muscle	Colon
30	chr5:117529800-117530800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:117529800-117531000	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:117530600-117531400	Enhancers	Liver	Liver
33	chr5:117530600-117532200	Enhancers	Rectal Smooth Muscle	rectum
34	chr5:117530800-117531000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:117530800-117531000	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr5:117530800-117531200	Active TSS	Right Atrium	heart
37	chr5:117530800-117531400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:117531000-117531200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:117531000-117531200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:117531000-117531200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr5:117531000-117531600	Enhancers	Colon Smooth Muscle	Colon
42	chr5:117531200-117531400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:117531200-117531400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:117531200-117531800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:117531200-117534200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:117531400-117534800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:117531800-117533000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr5:117531800-117533200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr5:117532000-117532800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr5:117532200-117533600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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