Variant report

Variant	esv2757108
Chromosome Location	chr5:17398090-17804346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3173)
CpG islands
(count:2198)
Chromatin interactive
region (count:50)
LncRNA
region (count:53)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3173 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:17526839-17526866	K562	blood:	n/a	n/a
2	ARID3A	chr5:17398657-17398856	K562	blood:	n/a	n/a
3	ARID3A	chr5:17400080-17400209	K562	blood:	n/a	n/a
4	ARID3A	chr5:17517830-17517852	K562	blood:	n/a	n/a
5	ATF1	chr5:17400709-17401396	K562	blood:	n/a	n/a
6	ATF1	chr5:17517811-17517870	K562	blood:	n/a	n/a
7	ATF1	chr5:17398236-17399036	K562	blood:	n/a	n/a
8	ATF1	chr5:17400131-17400411	K562	blood:	n/a	n/a
9	ATF1	chr5:17413435-17413764	K562	blood:	n/a	n/a
10	ATF1	chr5:17492224-17492379	K562	blood:	n/a	n/a
11	ATF1	chr5:17415654-17415786	K562	blood:	n/a	n/a
12	ATF2	chr5:17425402-17425976	GM12878	blood:	n/a	n/a
13	ATF2	chr5:17425371-17425899	GM12878	blood:	n/a	n/a
14	ATF2	chr5:17401891-17402229	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr5:17426396-17426854	GM12878	blood:	n/a	n/a
16	ATF3	chr5:17517759-17517894	K562	blood:	n/a	n/a
17	ATF3	chr5:17443879-17444164	K562	blood:	n/a	n/a
18	BACH1	chr5:17434247-17434354	K562	blood:	n/a	n/a
19	BACH1	chr5:17413521-17413685	K562	blood:	n/a	chr5:17413586-17413600
20	BACH1	chr5:17400938-17402146	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr5:17680992-17681026	K562	blood:	n/a	n/a
22	BACH1	chr5:17526845-17526876	K562	blood:	n/a	n/a
23	BACH1	chr5:17415528-17415532	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr5:17588662-17591030	GM12878	blood:	n/a	n/a
25	BATF	chr5:17520861-17521352	GM12878	blood:	n/a	n/a
26	BATF	chr5:17591806-17592083	GM12878	blood:	n/a	n/a
27	BATF	chr5:17581436-17582365	GM12878	blood:	n/a	n/a
28	BATF	chr5:17580902-17581080	GM12878	blood:	n/a	n/a
29	BATF	chr5:17586589-17586869	GM12878	blood:	n/a	n/a
30	BATF	chr5:17586894-17587691	GM12878	blood:	n/a	n/a
31	BATF	chr5:17632271-17632495	GM12878	blood:	n/a	n/a
32	BATF	chr5:17599390-17599669	GM12878	blood:	n/a	n/a
33	BATF	chr5:17588369-17588646	GM12878	blood:	n/a	n/a
34	BATF	chr5:17521816-17524282	GM12878	blood:	n/a	n/a
35	BATF	chr5:17499625-17499833	GM12878	blood:	n/a	n/a
36	BATF	chr5:17583170-17583447	GM12878	blood:	n/a	n/a
37	BATF	chr5:17518387-17521181	GM12878	blood:	n/a	n/a
38	BATF	chr5:17581115-17581413	GM12878	blood:	n/a	n/a
39	BATF	chr5:17524307-17524569	GM12878	blood:	n/a	n/a
40	BATF	chr5:17599128-17599665	GM12878	blood:	n/a	n/a
41	BATF	chr5:17521821-17524301	GM12878	blood:	n/a	n/a
42	BATF	chr5:17633787-17633984	GM12878	blood:	n/a	n/a
43	BATF	chr5:17588377-17588634	GM12878	blood:	n/a	n/a
44	BATF	chr5:17591814-17594470	GM12878	blood:	n/a	n/a
45	BATF	chr5:17583178-17585829	GM12878	blood:	n/a	n/a
46	BATF	chr5:17525250-17527716	GM12878	blood:	n/a	n/a
47	BATF	chr5:17528689-17530680	GM12878	blood:	n/a	n/a
48	BATF	chr5:17631481-17631659	GM12878	blood:	n/a	n/a
49	BATF	chr5:17524295-17524851	GM12878	blood:	n/a	n/a
50	BATF	chr5:17581121-17581401	GM12878	blood:	n/a	n/a

(count:2198 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17632536-17632586	SK-N-SH	brain:	n/a
2	chr5:17528991-17529041	PrEC	prostate:	n/a
3	chr5:17632536-17632586	SK-N-SH	brain:	n/a
4	chr5:17528991-17529041	PrEC	prostate:	n/a
5	chr5:17670442-17670492	Hela-S3	cervix:	n/a
6	chr5:17802512-17802562	ovcar-3	ovarian:	n/a
7	chr5:17632536-17632586	HL-60	blood:	n/a
8	chr5:17631696-17631746	SK-N-MC	brain:	n/a
9	chr5:17444401-17444451	PrEC	prostate:	n/a
10	chr5:17400323-17400373	HIPEpiC	eye:	n/a
11	chr5:17664567-17664617	HCPEpiC	choroid plexus:	n/a
12	chr5:17495781-17495831	HPAEpiC	pulmonary alveolar:	n/a
13	chr5:17495781-17495831	HRPEpiC	eye:	n/a
14	chr5:17414184-17414234	HRPEpiC	eye:	n/a
15	chr5:17604867-17604917	GM12892	blood:	n/a
16	chr5:17631696-17631746	NHDF-neo	bronchial:	n/a
17	chr5:17517201-17517251	U87	brain:	n/a
18	chr5:17656637-17656687	NHBE	bronchial:	n/a
19	chr5:17528991-17529041	HUVEC	blood vessel:	n/a
20	chr5:17522582-17522632	Caco-2	colon:	n/a
21	chr5:17632557-17632607	PFSK-1	brain:	n/a
22	chr5:17491941-17491991	Jurkat	blood:	n/a
23	chr5:17595441-17595491	SKMC	muscle:	n/a
24	chr5:17654594-17654644	HCPEpiC	choroid plexus:	n/a
25	chr5:17400323-17400373	HL-60	blood:	n/a
26	chr5:17488879-17488929	HEEpiC	esophagus:	n/a
27	chr5:17491941-17491991	HRCEpiC	kidney:	n/a
28	chr5:17491941-17491991	HCF	heart:	n/a
29	chr5:17528991-17529041	PFSK-1	brain:	n/a
30	chr5:17632557-17632607	BE2_C	brain:	n/a
31	chr5:17580826-17580876	AG09319	gingival:	n/a
32	chr5:17488879-17488929	HRPEpiC	eye:	n/a
33	chr5:17632536-17632586	Jurkat	blood:	n/a
34	chr5:17485435-17485485	NHDF-neo	bronchial:	n/a
35	chr5:17401890-17401940	AG09319	gingival:	n/a
36	chr5:17491604-17491654	HCT-116	colon:	n/a
37	chr5:17634462-17634512	GM12878	blood:	n/a
38	chr5:17670475-17670525	MCF-7	breast:	n/a
39	chr5:17604867-17604917	PFSK-1	brain:	n/a
40	chr5:17490778-17490828	HepG2	liver:	n/a
41	chr5:17632557-17632607	U87	brain:	n/a
42	chr5:17414184-17414234	HAEpiC	amniotic membrane:	n/a
43	chr5:17517201-17517251	HEEpiC	esophagus:	n/a
44	chr5:17400323-17400373	HepG2	liver:	n/a
45	chr5:17670475-17670525	HCF	heart:	n/a
46	chr5:17604867-17604917	HIPEpiC	eye:	n/a
47	chr5:17670442-17670492	HIPEpiC	eye:	n/a
48	chr5:17632043-17632093	HRE	kidney:	n/a
49	chr5:17401890-17401940	ECC-1	luminal epithelium:	n/a
50	chr5:17517201-17517251	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:17702899..17705763-chr5:17710587..17714118,3	MCF-7	breast:
2	chr5:17719378..17721402-chr5:17724190..17726007,2	MCF-7	breast:
3	chr5:17446833..17449235-chr5:17452939..17454886,2	MCF-7	breast:
4	chr5:17393977..17396441-chr5:17404895..17406641,2	MCF-7	breast:
5	chr5:17428609..17430151-chr5:17432039..17433769,2	MCF-7	breast:
6	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:
7	chr5:17217433..17219821-chr5:17690448..17693197,3	MCF-7	breast:
8	chr5:17482145..17483996-chr5:17485919..17488626,2	MCF-7	breast:
9	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
10	chr5:17635261..17638059-chr5:17641232..17643907,2	MCF-7	breast:
11	chr5:17216329..17216875-chr5:17413138..17413983,2	MCF-7	breast:
12	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
13	chr5:17445129..17446748-chr5:17447906..17450127,2	MCF-7	breast:
14	chr5:17422805..17424378-chr5:17424436..17427431,2	MCF-7	breast:
15	chr5:17801716..17804540-chr5:17805229..17807105,2	K562	blood:
16	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
17	chr5:17491440..17494172-chr5:17495062..17497549,2	MCF-7	breast:
18	chr5:17399274..17401360-chr5:17404322..17406946,2	MCF-7	breast:
19	chr5:17216395..17218536-chr5:17655025..17657774,2	MCF-7	breast:
20	chr5:17445953..17448807-chr5:17455324..17457089,2	K562	blood:
21	chr5:17788405..17790978-chr5:17794011..17796191,2	MCF-7	breast:
22	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
23	chr5:17632983..17635813-chr5:17637711..17640599,2	K562	blood:
24	chr5:17391442..17394133-chr5:17400985..17402513,2	MCF-7	breast:
25	chr5:17365516..17367373-chr5:17399549..17401386,2	K562	blood:
26	chr5:17491440..17494172-chr5:17495062..17497549,2	MCF-7	breast:
27	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
28	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
29	chr5:17798564..17800322-chr5:17802790..17805535,2	K562	blood:
30	chr5:17719378..17721402-chr5:17724190..17726007,2	MCF-7	breast:
31	chr5:17422805..17424378-chr5:17424436..17427431,2	MCF-7	breast:
32	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:
33	chr5:17693367..17696364-chr5:17702400..17704641,2	MCF-7	breast:
34	chr5:17428609..17430151-chr5:17432039..17433769,2	MCF-7	breast:
35	chr5:17702899..17705763-chr5:17710587..17714118,3	MCF-7	breast:
36	chr5:17401084..17403430-chr5:17409103..17412028,2	K562	blood:
37	chr5:17216689..17219268-chr5:17450632..17453590,2	MCF-7	breast:
38	chr5:17644806..17646667-chr5:17648582..17651312,2	MCF-7	breast:
39	chr5:17788405..17790978-chr5:17794011..17796191,2	MCF-7	breast:
40	chr5:17445953..17448807-chr5:17455324..17457089,2	K562	blood:
41	chr5:17413771..17415306-chr5:17416901..17419149,2	MCF-7	breast:
42	chr5:17401084..17403430-chr5:17409103..17412028,2	K562	blood:
43	chr5:17445129..17446748-chr5:17447906..17450127,2	MCF-7	breast:
44	chr5:17798564..17800322-chr5:17802790..17805535,2	K562	blood:
45	chr5:17399274..17401360-chr5:17404322..17406946,2	MCF-7	breast:
46	chr5:17446833..17449235-chr5:17452939..17454886,2	MCF-7	breast:
47	chr5:17223492..17225946-chr5:17474747..17476783,2	MCF-7	breast:
48	chr5:17693367..17696364-chr5:17702400..17704641,2	MCF-7	breast:
49	chr5:17215792..17218205-chr5:17402099..17403683,2	MCF-7	breast:
50	chr5:17413771..17415306-chr5:17416901..17419149,2	MCF-7	breast:

(count:53 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-7	chr5:17684693-17684796	NONHSAT100665
2	lnc-BASP1-3	chr5:17441577-17441809	NONHSAT100641
3	lnc-BASP1-4	chr5:17485639-17485937	XLOC_004309
4	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309
5	lnc-BASP1-3	chr5:17440223-17440293	XLOC_004308
6	lnc-BASP1-3	chr5:17441578-17442654	XLOC_004308
7	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309
8	lnc-BASP1-4	chr5:17483931-17484068	XLOC_004309
9	lnc-BASP1-7	chr5:17769003-17769093	NONHSAT100665
10	lnc-BASP1-3	chr5:17404535-17404838	XLOC_004308
11	lnc-BASP1-4	chr5:17483841-17484055	XLOC_004309
12	lnc-MYO10-19	chr5:17654482-17654752	NONHSAT100661
13	lnc-BASP1-3	chr5:17437289-17437322	XLOC_004308
14	lnc-BASP1-3	chr5:17404128-17404197	XLOC_004308
15	lnc-BASP1-3	chr5:17404213-17404838	XLOC_004308
16	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
17	lnc-BASP1-3	chr5:17441578-17441826	NONHSAT100634
18	lnc-BASP1-4	chr5:17445736-17446039	XLOC_004309
19	lnc-BASP1-3	chr5:17404217-17404429	XLOC_004308
20	lnc-BASP1-3	chr5:17430038-17430385	NONHSAT100631
21	lnc-BASP1-11	chr5:17456970-17457429	l_2885_chr5:17456969-17494846_brain
22	lnc-BASP1-11	chr5:17494578-17494846	l_2885_chr5:17456969-17494846_brain
23	lnc-BASP1-3	chr5:17404098-17404197	NONHSAT100634
24	lnc-MYO10-8	chr5:17437952-17438549	ucscGeneNc_uc003jga_2
25	lnc-BASP1-7	chr5:17684693-17684796	ENSG00000249937
26	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
27	lnc-MYO10-8	chr5:17432016-17433619	ucscGeneNc_uc003jga_2
28	lnc-BASP1-4	chr5:17477724-17477865	XLOC_004309
29	lnc-BASP1-3	chr5:17404040-17404197	XLOC_004308
30	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
31	lnc-BASP1-3	chr5:17412000-17412207	NONHSAT100631
32	lnc-BASP1-3	chr5:17404535-17404701	XLOC_004308
33	lnc-BASP1-3	chr5:17441578-17441846	XLOC_004308
34	lnc-BASP1-3	chr5:17441578-17442297	XLOC_004308
35	lnc-MYO10-17	chr5:17643071-17643337	NONHSAT100659
36	lnc-BASP1-3	chr5:17404535-17404838	XLOC_004308
37	lnc-BASP1-3	chr5:17430053-17430082	XLOC_004308
38	lnc-BASP1-3	chr5:17404667-17404840	XLOC_004308
39	lnc-BASP1-11	chr5:17457474-17457838	l_2885_chr5:17456969-17494846_brain
40	lnc-MYO10-8	chr5:17440311-17440416	ucscGeneNc_uc003jga_2
41	lnc-BASP1-3	chr5:17404005-17404178	XLOC_004308
42	lnc-BASP1-3	chr5:17412001-17412207	XLOC_004308
43	lnc-BASP1-3	chr5:17436845-17437322	NONHSAT100641
44	lnc-BASP1-3	chr5:17404039-17404474	NONHSAT100631
45	lnc-BASP1-3	chr5:17436846-17437322	XLOC_004308
46	lnc-BASP1-3	chr5:17404534-17404840	NONHSAT100631
47	lnc-BASP1-7	chr5:17769003-17769093	ENSG00000249937
48	lnc-BASP1-3	chr5:17441578-17441809	XLOC_004308
49	lnc-BASP1-3	chr5:17441578-17441803	XLOC_004308
50	lnc-MYO10-12	chr5:17587399-17587632	NONHSAT100653

No data

Variant related genes	Relation type
ENSG00000251304	TF binding region
ENSG00000249427	TF binding region
ENSG00000249282	TF binding region
ENSG00000250558	TF binding region
ENSG00000250807	TF binding region
ENSG00000250296	TF binding region
ENSG00000248455	TF binding region
ENSG00000250055	TF binding region
ENSG00000249339	TF binding region
ENSG00000250386	TF binding region
ENSG00000250715	TF binding region
ENSG00000249329	TF binding region
ENSG00000249156	TF binding region
ENSG00000248337	TF binding region
ENSG00000248160	TF binding region
ENSG00000268799	TF binding region
ENSG00000249937	TF binding region
ENSG00000249620	TF binding region
ENSG00000248542	TF binding region
ENSG00000248861	TF binding region
ENSG00000248205	TF binding region
ENSG00000248471	TF binding region
ENSG00000250667	TF binding region
ENSG00000248422	TF binding region
ENSG00000269466	TF binding region
ENSG00000271296	TF binding region
ENSG00000250351	TF binding region
ENSG00000249666	TF binding region
ENSG00000249357	TF binding region
ENSG00000249662	TF binding region
ENSG00000250088	TF binding region
ENSG00000250782	TF binding region
ENSG00000185041	TF binding region
ENSG00000251304	CpG island
ENSG00000249427	CpG island
ENSG00000249282	CpG island
ENSG00000250558	CpG island
ENSG00000250807	CpG island
ENSG00000250296	CpG island
ENSG00000248455	CpG island
ENSG00000250055	CpG island
ENSG00000249339	CpG island
ENSG00000250386	CpG island
ENSG00000250715	CpG island
ENSG00000249329	CpG island
ENSG00000249156	CpG island
ENSG00000248337	CpG island
ENSG00000248160	CpG island
ENSG00000268799	CpG island
ENSG00000249937	CpG island
ENSG00000249620	CpG island
ENSG00000248542	CpG island
ENSG00000248861	CpG island
ENSG00000248205	CpG island
ENSG00000248471	CpG island
ENSG00000250667	CpG island
ENSG00000248422	CpG island
ENSG00000269466	CpG island
ENSG00000271296	CpG island
ENSG00000250351	CpG island
ENSG00000249666	CpG island
ENSG00000249357	CpG island
ENSG00000249662	CpG island
ENSG00000250088	CpG island
ENSG00000250782	CpG island
ENSG00000185041	CpG island
ENSG00000250667	chromatin interactions
ENSG00000250782	chromatin interactions
ENSG00000268799	chromatin interactions
ENSG00000248542	chromatin interactions
ENSG00000251304	chromatin interactions
ENSG00000215196	chromatin interactions
ENSG00000176788	chromatin interactions
ENSG00000248471	chromatin interactions
GTF2H1	miRNA target sites
RNF41	miRNA target sites
PRKCE	miRNA target sites
RAE1	miRNA target sites
GTF2I	miRNA target sites
RAD51	miRNA target sites
GXYLT1	miRNA target sites

Extended variants
information (count: 8375 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:8375 , 50 per page) page: 1 2 3 4 5 6 7 ... 168

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs867356	chr5:17398090-17398091	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188526509	chr5:17398101-17398102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376665720	chr5:17398163-17398164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs904861	chr5:17398173-17398174	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547770448	chr5:17398177-17398178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568092198	chr5:17398193-17398194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193163764	chr5:17398214-17398215	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556895905	chr5:17398218-17398219	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184982308	chr5:17398238-17398239	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11133898	chr5:17398246-17398247	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539664219	chr5:17398274-17398275	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112460341	chr5:17398278-17398279	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576389369	chr5:17398353-17398354	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535788192	chr5:17398394-17398395	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545630080	chr5:17398403-17398404	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190718260	chr5:17398425-17398426	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560637990	chr5:17398478-17398479	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148120836	chr5:17398514-17398515	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549033857	chr5:17398615-17398616	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76168285	chr5:17398696-17398697	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541126198	chr5:17398708-17398709	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs870893	chr5:17398728-17398729	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs373286479	chr5:17398758-17398759	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577788876	chr5:17398766-17398767	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111334917	chr5:17398773-17398774	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181816901	chr5:17398796-17398797	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563552457	chr5:17398802-17398803	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141884651	chr5:17398828-17398829	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549316255	chr5:17398841-17398842	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117473494	chr5:17398860-17398861	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573003024	chr5:17398884-17398885	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527320021	chr5:17398927-17398928	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150197611	chr5:17398929-17398930	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570501189	chr5:17398934-17398935	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183897319	chr5:17398995-17398996	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549961745	chr5:17399033-17399034	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs549691909	chr5:17399075-17399076	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs372996821	chr5:17399097-17399098	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs138693897	chr5:17399117-17399118	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs555673241	chr5:17399154-17399155	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs377499838	chr5:17399156-17399157	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs547212301	chr5:17399180-17399181	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs188277827	chr5:17399221-17399222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs535043707	chr5:17399253-17399254	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs557887155	chr5:17399310-17399311	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs375459374	chr5:17399335-17399336	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs539707962	chr5:17399338-17399339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs558050248	chr5:17399340-17399341	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs576353792	chr5:17399341-17399342	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs529806808	chr5:17399344-17399345	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	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
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	19287141	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:972 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17396400-17400000	Weak transcription	Placenta	Placenta
2	chr5:17396600-17398200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:17396600-17400800	Weak transcription	Fetal Kidney	kidney
4	chr5:17396800-17398400	Weak transcription	GM12878-XiMat	blood
5	chr5:17396800-17399600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:17397000-17398600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:17397200-17401600	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:17397400-17400800	Weak transcription	Ovary	ovary
9	chr5:17397600-17402000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:17397800-17399200	Enhancers	NHLF	lung
11	chr5:17397800-17399400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:17397800-17399400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:17397800-17399400	Enhancers	HMEC	breast
14	chr5:17397800-17399400	Enhancers	Osteobl	bone
15	chr5:17397800-17399600	Enhancers	NH-A	brain
16	chr5:17397800-17401000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:17397800-17403000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:17398000-17398800	Enhancers	HSMMtube	muscle
19	chr5:17398000-17399000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:17398000-17399000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:17398000-17399000	Enhancers	Hela-S3	cervix
22	chr5:17398000-17399200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:17398000-17399200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:17398000-17399200	Enhancers	A549	lung
25	chr5:17398000-17399600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:17398000-17399600	Enhancers	HSMM	muscle
27	chr5:17398000-17399600	Enhancers	NHDF-Ad	bronchial
28	chr5:17398000-17399600	Enhancers	NHEK	skin
29	chr5:17398000-17400200	Enhancers	Primary hematopoietic stem cells	blood
30	chr5:17398000-17400800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:17398000-17400800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:17398200-17398400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:17398200-17398400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr5:17398200-17399000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:17398200-17399000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:17398200-17399200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:17398200-17399200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:17398200-17399200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:17398200-17399400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr5:17398200-17399600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr5:17398200-17400600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:17398200-17400800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:17398400-17399200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:17398400-17399600	Enhancers	GM12878-XiMat	blood
45	chr5:17398400-17400600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:17398600-17399000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr5:17398600-17399200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:17398600-17399200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr5:17398600-17399200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr5:17398600-17403000	Enhancers	Primary monocytes fromperipheralblood	blood

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