Variant report

Variant	esv1801170
Chromosome Location	chr5:17364700-17721569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3233)
CpG islands
(count:2442)
Chromatin interactive
region (count:57)
LncRNA
region (count:61)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3233 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:17400080-17400209	K562	blood:	n/a	n/a
2	ARID3A	chr5:17517830-17517852	K562	blood:	n/a	n/a
3	ARID3A	chr5:17398657-17398856	K562	blood:	n/a	n/a
4	ARID3A	chr5:17526839-17526866	K562	blood:	n/a	n/a
5	ATF1	chr5:17492224-17492379	K562	blood:	n/a	n/a
6	ATF1	chr5:17400131-17400411	K562	blood:	n/a	n/a
7	ATF1	chr5:17398236-17399036	K562	blood:	n/a	n/a
8	ATF1	chr5:17413435-17413764	K562	blood:	n/a	n/a
9	ATF1	chr5:17517811-17517870	K562	blood:	n/a	n/a
10	ATF1	chr5:17415654-17415786	K562	blood:	n/a	n/a
11	ATF1	chr5:17400709-17401396	K562	blood:	n/a	n/a
12	ATF2	chr5:17401891-17402229	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr5:17425371-17425899	GM12878	blood:	n/a	n/a
14	ATF2	chr5:17425402-17425976	GM12878	blood:	n/a	n/a
15	ATF2	chr5:17426396-17426854	GM12878	blood:	n/a	n/a
16	ATF3	chr5:17374151-17374643	A549	lung:	n/a	chr5:17374468-17374481 chr5:17374469-17374480 chr5:17374467-17374478 chr5:17374471-17374478 chr5:17374471-17374481 chr5:17374467-17374482 chr5:17374468-17374479 chr5:17374468-17374481 chr5:17374470-17374478 chr5:17374468-17374478 chr5:17374471-17374481
17	ATF3	chr5:17374208-17374748	A549	lung:	n/a	chr5:17374468-17374481 chr5:17374469-17374480 chr5:17374467-17374478 chr5:17374471-17374478 chr5:17374471-17374481 chr5:17374467-17374482 chr5:17374468-17374479 chr5:17374468-17374481 chr5:17374470-17374478 chr5:17374468-17374478 chr5:17374471-17374481
18	ATF3	chr5:17443879-17444164	K562	blood:	n/a	n/a
19	ATF3	chr5:17517759-17517894	K562	blood:	n/a	n/a
20	ATF3	chr5:17375481-17375880	A549	lung:	n/a	n/a
21	BACH1	chr5:17434247-17434354	K562	blood:	n/a	n/a
22	BACH1	chr5:17680992-17681026	K562	blood:	n/a	n/a
23	BACH1	chr5:17413521-17413685	K562	blood:	n/a	chr5:17413586-17413600
24	BACH1	chr5:17526845-17526876	K562	blood:	n/a	n/a
25	BACH1	chr5:17400938-17402146	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr5:17375539-17375965	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr5:17415528-17415532	H1-hESC	embryonic stem cell:	n/a	n/a
28	BATF	chr5:17633076-17633247	GM12878	blood:	n/a	n/a
29	BATF	chr5:17581436-17582365	GM12878	blood:	n/a	n/a
30	BATF	chr5:17583178-17585829	GM12878	blood:	n/a	n/a
31	BATF	chr5:17586894-17587691	GM12878	blood:	n/a	n/a
32	BATF	chr5:17591814-17594470	GM12878	blood:	n/a	n/a
33	BATF	chr5:17583462-17585828	GM12878	blood:	n/a	n/a
34	BATF	chr5:17521821-17524301	GM12878	blood:	n/a	n/a
35	BATF	chr5:17588369-17588646	GM12878	blood:	n/a	n/a
36	BATF	chr5:17518382-17520848	GM12878	blood:	n/a	n/a
37	BATF	chr5:17586583-17586881	GM12878	blood:	n/a	n/a
38	BATF	chr5:17632734-17632883	GM12878	blood:	n/a	n/a
39	BATF	chr5:17581407-17582352	GM12878	blood:	n/a	n/a
40	BATF	chr5:17520861-17521352	GM12878	blood:	n/a	n/a
41	BATF	chr5:17632982-17633256	GM12878	blood:	n/a	n/a
42	BATF	chr5:17528689-17530680	GM12878	blood:	n/a	n/a
43	BATF	chr5:17425526-17425766	GM12878	blood:	n/a	n/a
44	BATF	chr5:17518387-17521181	GM12878	blood:	n/a	n/a
45	BATF	chr5:17528684-17530686	GM12878	blood:	n/a	n/a
46	BATF	chr5:17588662-17591030	GM12878	blood:	n/a	n/a
47	BATF	chr5:17521816-17524282	GM12878	blood:	n/a	n/a
48	BATF	chr5:17581121-17581401	GM12878	blood:	n/a	n/a
49	BATF	chr5:17583170-17583447	GM12878	blood:	n/a	n/a
50	BATF	chr5:17587321-17587686	GM12878	blood:	n/a	n/a

(count:2442 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17632557-17632607	GM12892	blood:	n/a
2	chr5:17670475-17670525	H1-hESC	embryonic stem cell:	embryo
3	chr5:17632557-17632607	GM12892	blood:	n/a
4	chr5:17670475-17670525	H1-hESC	embryonic stem cell:	embryo
5	chr5:17632043-17632093	SK-N-SH	brain:	n/a
6	chr5:17517201-17517251	ECC-1	luminal epithelium:	n/a
7	chr5:17580826-17580876	PFSK-1	brain:	n/a
8	chr5:17664567-17664617	BE2_C	brain:	n/a
9	chr5:17670475-17670525	SK-N-SH_RA	brain:	n/a
10	chr5:17395952-17396002	Hela-S3	cervix:	n/a
11	chr5:17395952-17396002	SK-N-SH	brain:	n/a
12	chr5:17670442-17670492	HEEpiC	esophagus:	n/a
13	chr5:17522582-17522632	NH-A	brain:	n/a
14	chr5:17491604-17491654	ECC-1	luminal epithelium:	n/a
15	chr5:17655356-17655406	RPTEC	kidney:	n/a
16	chr5:17528991-17529041	PFSK-1	brain:	n/a
17	chr5:17490778-17490828	HCT-116	colon:	n/a
18	chr5:17524561-17524611	IMR90	lung:	fetal
19	chr5:17366028-17366078	HCF	heart:	n/a
20	chr5:17580826-17580876	ovcar-3	ovarian:	n/a
21	chr5:17519013-17519063	Hepatocyte	liver:	n/a
22	chr5:17664567-17664617	SK-N-SH	brain:	n/a
23	chr5:17381798-17381848	HCPEpiC	choroid plexus:	n/a
24	chr5:17400323-17400373	NHBE	bronchial:	n/a
25	chr5:17491941-17491991	U87	brain:	n/a
26	chr5:17656637-17656687	BE2_C	brain:	n/a
27	chr5:17633640-17633690	RPTEC	kidney:	n/a
28	chr5:17670442-17670492	ECC-1	luminal epithelium:	n/a
29	chr5:17517201-17517251	HIPEpiC	eye:	n/a
30	chr5:17366028-17366078	HCM	heart:	n/a
31	chr5:17491469-17491519	HEK293	kidney:	embryo
32	chr5:17491469-17491519	PFSK-1	brain:	n/a
33	chr5:17491586-17491636	HNPCEpiC	eye:	n/a
34	chr5:17580826-17580876	U87	brain:	n/a
35	chr5:17400323-17400373	HRPEpiC	eye:	n/a
36	chr5:17366028-17366078	HUVEC	blood vessel:	n/a
37	chr5:17491469-17491519	HepG2	liver:	n/a
38	chr5:17519013-17519063	HNPCEpiC	eye:	n/a
39	chr5:17655356-17655406	HCPEpiC	choroid plexus:	n/a
40	chr5:17633640-17633690	GM12892	blood:	n/a
41	chr5:17527430-17527480	NH-A	brain:	n/a
42	chr5:17670442-17670492	AoSMC	blood vessel:	n/a
43	chr5:17517201-17517251	HepG2	liver:	n/a
44	chr5:17495781-17495831	SK-N-SH	brain:	n/a
45	chr5:17604867-17604917	AG09319	gingival:	n/a
46	chr5:17491469-17491519	PrEC	prostate:	n/a
47	chr5:17670442-17670492	NB4	blood:	n/a
48	chr5:17604867-17604917	HEEpiC	esophagus:	n/a
49	chr5:17485435-17485485	SKMC	muscle:	n/a
50	chr5:17528991-17529041	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:17693367..17696364-chr5:17702400..17704641,2	MCF-7	breast:
2	chr5:17719378..17721402-chr5:17724190..17726007,2	MCF-7	breast:
3	chr5:17223492..17225946-chr5:17474747..17476783,2	MCF-7	breast:
4	chr5:17482145..17483996-chr5:17485919..17488626,2	MCF-7	breast:
5	chr5:17428609..17430151-chr5:17432039..17433769,2	MCF-7	breast:
6	chr5:17393977..17396441-chr5:17404895..17406641,2	MCF-7	breast:
7	chr5:17399274..17401360-chr5:17404322..17406946,2	MCF-7	breast:
8	chr5:17702899..17705763-chr5:17710587..17714118,3	MCF-7	breast:
9	chr5:17399274..17401360-chr5:17404322..17406946,2	MCF-7	breast:
10	chr5:17216804..17218598-chr5:17393185..17395511,2	MCF-7	breast:
11	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
12	chr5:17413771..17415306-chr5:17416901..17419149,2	MCF-7	breast:
13	chr5:17391442..17394133-chr5:17400985..17402513,2	MCF-7	breast:
14	chr5:17379053..17381282-chr5:17384689..17387126,2	MCF-7	breast:
15	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
16	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
17	chr5:17216329..17216875-chr5:17413138..17413983,2	MCF-7	breast:
18	chr5:17393977..17396441-chr5:17404895..17406641,2	MCF-7	breast:
19	chr5:17217433..17219821-chr5:17690448..17693197,3	MCF-7	breast:
20	chr5:17702899..17705763-chr5:17710587..17714118,3	MCF-7	breast:
21	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
22	chr5:17445129..17446748-chr5:17447906..17450127,2	MCF-7	breast:
23	chr5:17374463..17376322-chr5:17377368..17380030,2	K562	blood:
24	chr5:17216395..17218536-chr5:17655025..17657774,2	MCF-7	breast:
25	chr5:17401084..17403430-chr5:17409103..17412028,2	K562	blood:
26	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
27	chr5:17365516..17367373-chr5:17399549..17401386,2	K562	blood:
28	chr5:17216760..17218355-chr5:17375692..17378391,2	MCF-7	breast:
29	chr5:17391442..17394133-chr5:17400985..17402513,2	MCF-7	breast:
30	chr5:17358851..17361817-chr5:17363155..17365630,2	K562	blood:
31	chr5:17693367..17696364-chr5:17702400..17704641,2	MCF-7	breast:
32	chr5:17379053..17381282-chr5:17384689..17387126,2	MCF-7	breast:
33	chr5:17365516..17367373-chr5:17399549..17401386,2	K562	blood:
34	chr5:17215908..17217514-chr5:17379687..17381481,2	MCF-7	breast:
35	chr5:17380001..17380969-chr9:21802240..21803053,2	Hela-S3	cervix:
36	chr5:17215642..17218111-chr5:17382482..17385091,2	MCF-7	breast:
37	chr5:17216689..17219268-chr5:17450632..17453590,2	MCF-7	breast:
38	chr5:17413771..17415306-chr5:17416901..17419149,2	MCF-7	breast:
39	chr5:17445953..17448807-chr5:17455324..17457089,2	K562	blood:
40	chr5:17374822..17377145-chr5:17377368..17380212,2	K562	blood:
41	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
42	chr5:17491440..17494172-chr5:17495062..17497549,2	MCF-7	breast:
43	chr5:17422805..17424378-chr5:17424436..17427431,2	MCF-7	breast:
44	chr5:17446833..17449235-chr5:17452939..17454886,2	MCF-7	breast:
45	chr5:17446833..17449235-chr5:17452939..17454886,2	MCF-7	breast:
46	chr5:17401084..17403430-chr5:17409103..17412028,2	K562	blood:
47	chr5:17363994..17367599-chr5:17368831..17372207,3	MCF-7	breast:
48	chr5:17215792..17218205-chr5:17402099..17403683,2	MCF-7	breast:
49	chr5:17635261..17638059-chr5:17641232..17643907,2	MCF-7	breast:
50	chr5:17632983..17635813-chr5:17637711..17640599,2	K562	blood:

(count:61 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYO10-17	chr5:17643071-17643337	NONHSAT100659
2	lnc-BASP1-3	chr5:17404255-17404460	XLOC_004308
3	lnc-BASP1-3	chr5:17404217-17404429	XLOC_004308
4	lnc-BASP1-3	chr5:17440223-17440293	XLOC_004308
5	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
6	lnc-BASP1-4	chr5:17483841-17484055	XLOC_004309
7	lnc-BASP1-3	chr5:17441578-17441809	XLOC_004308
8	lnc-BASP1-4	chr5:17483931-17484068	XLOC_004309
9	lnc-BASP1-4	chr5:17477724-17477865	XLOC_004309
10	lnc-MYO10-8	chr5:17432016-17433619	ucscGeneNc_uc003jga_2
11	lnc-BASP1-4	chr5:17485639-17485937	XLOC_004309
12	lnc-MYO10-3	chr5:17379016-17380619	XLOC_004746
13	lnc-MYO10-3	chr5:17387311-17387419	ENSG00000250822
14	lnc-MYO10-2	chr5:17375567-17375686	XLOC_004745
15	lnc-BASP1-3	chr5:17441578-17442297	XLOC_004308
16	lnc-MYO10-2	chr5:17369334-17369498	XLOC_004745
17	lnc-BASP1-3	chr5:17404534-17404840	NONHSAT100631
18	lnc-BASP1-7	chr5:17684693-17684796	ENSG00000249937
19	lnc-BASP1-3	chr5:17437289-17437322	XLOC_004308
20	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
21	lnc-BASP1-3	chr5:17404128-17404197	XLOC_004308
22	lnc-BASP1-3	chr5:17441577-17441809	NONHSAT100641
23	lnc-BASP1-3	chr5:17436845-17437322	NONHSAT100641
24	lnc-BASP1-3	chr5:17441578-17441803	XLOC_004308
25	lnc-BASP1-3	chr5:17441578-17442654	XLOC_004308
26	lnc-MYO10-19	chr5:17654482-17654752	NONHSAT100661
27	lnc-MYO10-8	chr5:17437952-17438549	ucscGeneNc_uc003jga_2
28	lnc-BASP1-3	chr5:17404005-17404178	XLOC_004308
29	lnc-MYO10-3	chr5:17384952-17385549	ENSG00000250822
30	lnc-BASP1-3	chr5:17404040-17404197	XLOC_004308
31	lnc-BASP1-11	chr5:17494578-17494846	l_2885_chr5:17456969-17494846_brain
32	lnc-BASP1-3	chr5:17404039-17404474	NONHSAT100631
33	lnc-BASP1-3	chr5:17440222-17440293	NONHSAT100641
34	lnc-BASP1-3	chr5:17404667-17404840	XLOC_004308
35	lnc-BASP1-11	chr5:17465001-17465207	l_2885_chr5:17456969-17494846_brain
36	lnc-BASP1-11	chr5:17456970-17457429	l_2885_chr5:17456969-17494846_brain
37	lnc-MYO10-3	chr5:17387311-17387419	XLOC_004746
38	lnc-BASP1-3	chr5:17412001-17412207	XLOC_004308
39	lnc-BASP1-3	chr5:17404535-17404838	XLOC_004308
40	lnc-BASP1-3	chr5:17404535-17404701	XLOC_004308
41	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309
42	lnc-BASP1-11	chr5:17457474-17457838	l_2885_chr5:17456969-17494846_brain
43	lnc-BASP1-3	chr5:17404098-17404197	NONHSAT100634
44	lnc-BASP1-3	chr5:17404213-17404838	XLOC_004308
45	lnc-BASP1-3	chr5:17430038-17430385	NONHSAT100631
46	lnc-BASP1-3	chr5:17441578-17441826	NONHSAT100634
47	lnc-MYO10-3	chr5:17378026-17378606	XLOC_004746
48	lnc-BASP1-3	chr5:17412000-17412207	NONHSAT100631
49	lnc-MYO10-8	chr5:17440311-17440416	ucscGeneNc_uc003jga_2
50	lnc-MYO10-3	chr5:17378843-17379311	XLOC_004746

No data

Variant related genes	Relation type
ENSG00000251304	TF binding region
ENSG00000248542	TF binding region
ENSG00000249427	TF binding region
ENSG00000249282	TF binding region
ENSG00000248861	TF binding region
ENSG00000250558	TF binding region
ENSG00000248205	TF binding region
ENSG00000248471	TF binding region
ENSG00000250807	TF binding region
ENSG00000250667	TF binding region
ENSG00000250296	TF binding region
ENSG00000248455	TF binding region
ENSG00000250055	TF binding region
ENSG00000248422	TF binding region
ENSG00000269466	TF binding region
ENSG00000249339	TF binding region
ENSG00000271296	TF binding region
ENSG00000249199	TF binding region
ENSG00000250386	TF binding region
ENSG00000250351	TF binding region
ENSG00000250715	TF binding region
ENSG00000249329	TF binding region
ENSG00000249666	TF binding region
ENSG00000249357	TF binding region
ENSG00000249662	TF binding region
ENSG00000249156	TF binding region
ENSG00000248337	TF binding region
ENSG00000250088	TF binding region
ENSG00000248160	TF binding region
ENSG00000250782	TF binding region
ENSG00000268799	TF binding region
ENSG00000249937	TF binding region
ENSG00000185041	TF binding region
ENSG00000250822	TF binding region
ENSG00000249620	TF binding region
ENSG00000251304	CpG island
ENSG00000248542	CpG island
ENSG00000249427	CpG island
ENSG00000249282	CpG island
ENSG00000248861	CpG island
ENSG00000250558	CpG island
ENSG00000248205	CpG island
ENSG00000248471	CpG island
ENSG00000250807	CpG island
ENSG00000250667	CpG island
ENSG00000250296	CpG island
ENSG00000248455	CpG island
ENSG00000250055	CpG island
ENSG00000248422	CpG island
ENSG00000269466	CpG island
ENSG00000249339	CpG island
ENSG00000271296	CpG island
ENSG00000249199	CpG island
ENSG00000250386	CpG island
ENSG00000250351	CpG island
ENSG00000250715	CpG island
ENSG00000249329	CpG island
ENSG00000249666	CpG island
ENSG00000249357	CpG island
ENSG00000249662	CpG island
ENSG00000249156	CpG island
ENSG00000248337	CpG island
ENSG00000250088	CpG island
ENSG00000248160	CpG island
ENSG00000250782	CpG island
ENSG00000268799	CpG island
ENSG00000249937	CpG island
ENSG00000185041	CpG island
ENSG00000250822	CpG island
ENSG00000249620	CpG island
ENSG00000215196	chromatin interactions
ENSG00000249199	chromatin interactions
ENSG00000176788	chromatin interactions
ENSG00000264545	chromatin interactions
ENSG00000248471	chromatin interactions
ENSG00000250667	chromatin interactions
ENSG00000268799	chromatin interactions
ENSG00000248542	chromatin interactions
ENSG00000251304	chromatin interactions
ENSG00000250782	chromatin interactions
ENSG00000099810	chromatin interactions
GTF2I	miRNA target sites
MMP2	miRNA target sites
MMP24	miRNA target sites
RAD51	miRNA target sites
PRKCE	miRNA target sites
RNF41	miRNA target sites
GTF2H1	miRNA target sites
RAE1	miRNA target sites
GXYLT1	miRNA target sites
KRAS	miRNA target sites

Extended variants
information (count: 7644 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:7644 , 50 per page) page: 1 2 3 4 5 6 7 ... 153

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189313083	chr5:17364757-17364758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138221505	chr5:17364813-17364814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs58512970	chr5:17364835-17364836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376081628	chr5:17364836-17364837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561404374	chr5:17364838-17364839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397951341	chr5:17364847-17364848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199551759	chr5:17364848-17364849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200813797	chr5:17364850-17364851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113047023	chr5:17364859-17364860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2650928	chr5:17364860-17364861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547159237	chr5:17364862-17364863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2666437	chr5:17364895-17364896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533187121	chr5:17364943-17364944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180902830	chr5:17365006-17365007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535988079	chr5:17365017-17365018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370207306	chr5:17365060-17365061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540507348	chr5:17365108-17365109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185213449	chr5:17365120-17365121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549416187	chr5:17365196-17365197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190309450	chr5:17365231-17365232	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs535101539	chr5:17365320-17365321	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs73054833	chr5:17365360-17365361	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs578105362	chr5:17365379-17365380	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs537698637	chr5:17365397-17365398	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs557327502	chr5:17365424-17365425	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574001717	chr5:17365436-17365437	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs183207071	chr5:17365448-17365449	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs541388327	chr5:17365463-17365464	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs529058370	chr5:17365469-17365470	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs544334745	chr5:17365481-17365482	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs561365691	chr5:17365511-17365512	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs9312951	chr5:17365538-17365539	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs562440942	chr5:17365567-17365568	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs532976181	chr5:17365577-17365578	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs540752115	chr5:17365591-17365592	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564246502	chr5:17365598-17365599	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs186894992	chr5:17365616-17365617	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554367072	chr5:17365631-17365632	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs372257377	chr5:17365687-17365688	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs141777269	chr5:17365726-17365727	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563401726	chr5:17365731-17365732	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs572557033	chr5:17365756-17365757	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs77851443	chr5:17365770-17365771	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs551104435	chr5:17365815-17365816	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs549327826	chr5:17365830-17365831	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs191840571	chr5:17365851-17365852	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs546449268	chr5:17365927-17365928	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs535061760	chr5:17365971-17365972	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs555977712	chr5:17365989-17365990	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs6893082	chr5:17365993-17365994	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

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

Chromatin state (count:1164 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17354800-17366000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:17360600-17364800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:17360800-17365000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:17360800-17365200	Weak transcription	NHLF	lung
5	chr5:17360800-17365600	Weak transcription	NHDF-Ad	bronchial
6	chr5:17361000-17365000	Weak transcription	Fetal Stomach	stomach
7	chr5:17361000-17365400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:17361000-17365600	Weak transcription	Ovary	ovary
9	chr5:17362200-17375200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:17363800-17365000	Weak transcription	Placenta	Placenta
11	chr5:17364400-17366200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:17364400-17367200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:17364600-17365600	Enhancers	Brain Germinal Matrix	brain
14	chr5:17364800-17366200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:17365000-17365200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:17365000-17365600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:17365000-17365800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:17365000-17365800	Enhancers	Brain Anterior Caudate	brain
19	chr5:17365000-17366000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:17365000-17366000	Enhancers	Fetal Brain Female	brain
21	chr5:17365000-17366000	Enhancers	Fetal Stomach	stomach
22	chr5:17365000-17366200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:17365000-17366200	Enhancers	Fetal Lung	lung
24	chr5:17365200-17365400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr5:17365200-17365400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:17365200-17365600	Enhancers	A549	lung
27	chr5:17365200-17365800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:17365200-17366000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:17365200-17366200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr5:17365200-17367200	Enhancers	NHLF	lung
31	chr5:17365400-17365600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:17365400-17366000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:17365400-17366200	Enhancers	NH-A	brain
34	chr5:17365400-17366400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:17365400-17367200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:17365400-17367200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:17365400-17368200	Enhancers	Fetal Brain Male	brain
38	chr5:17365600-17365800	Enhancers	NHDF-Ad	bronchial
39	chr5:17365600-17366000	Enhancers	Brain Cingulate Gyrus	brain
40	chr5:17365600-17366000	Active TSS	Brain Germinal Matrix	brain
41	chr5:17365600-17366000	Flanking Active TSS	A549	lung
42	chr5:17365600-17366200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:17365600-17366200	Enhancers	Ovary	ovary
44	chr5:17365800-17366000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:17365800-17366000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:17365800-17366000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:17365800-17366000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:17365800-17366000	Flanking Active TSS	NHDF-Ad	bronchial
49	chr5:17365800-17366200	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr5:17365800-17366200	Active TSS	Brain Inferior Temporal Lobe	brain

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