Variant report

Variant	nsv597845
Chromosome Location	chr5:37369958-37556926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2442)
CpG islands
(count:1648)
Chromatin interactive
region (count:87)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:37371072-37371329	HepG2	liver:	n/a	chr5:37371175-37371187
2	ARID3A	chr5:37435399-37435833	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:37554224-37554305	K562	blood:	n/a	n/a
4	ARID3A	chr5:37379206-37379473	K562	blood:	n/a	n/a
5	ARID3A	chr5:37552742-37553918	K562	blood:	n/a	n/a
6	ARID3A	chr5:37412949-37413405	K562	blood:	n/a	n/a
7	ARID3A	chr5:37435813-37436000	K562	blood:	n/a	chr5:37435891-37435907
8	ARID3A	chr5:37413045-37413386	HepG2	liver:	n/a	n/a
9	ARID3A	chr5:37424736-37424788	HepG2	liver:	n/a	n/a
10	ARID3A	chr5:37371166-37371527	K562	blood:	n/a	chr5:37371175-37371187
11	ARID3A	chr5:37555087-37555396	K562	blood:	n/a	n/a
12	ATF1	chr5:37552974-37553744	K562	blood:	n/a	n/a
13	ATF1	chr5:37379197-37379483	K562	blood:	n/a	n/a
14	ATF1	chr5:37370938-37371803	K562	blood:	n/a	n/a
15	ATF1	chr5:37413139-37413402	K562	blood:	n/a	n/a
16	ATF2	chr5:37370951-37371687	GM12878	blood:	n/a	n/a
17	ATF2	chr5:37379198-37379480	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr5:37370933-37371743	GM12878	blood:	n/a	n/a
19	ATF2	chr5:37370974-37371643	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr5:37370963-37371677	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr5:37379058-37379502	GM12878	blood:	n/a	n/a
22	ATF3	chr5:37371024-37371385	H1-hESC	embryonic stem cell:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
23	ATF3	chr5:37370993-37371683	A549	lung:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
24	ATF3	chr5:37413096-37413476	K562	blood:	n/a	n/a
25	ATF3	chr5:37370782-37371385	K562	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
26	ATF3	chr5:37370943-37371319	H1-hESC	embryonic stem cell:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
27	ATF3	chr5:37379172-37379508	A549	lung:	n/a	n/a
28	ATF3	chr5:37379108-37379491	K562	blood:	n/a	n/a
29	ATF3	chr5:37371001-37371307	HepG2	liver:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
30	ATF3	chr5:37370920-37371369	K562	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
31	ATF3	chr5:37370910-37371420	GM12878	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
32	ATF3	chr5:37371073-37371320	GM12878	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
33	ATF3	chr5:37379100-37379507	A549	lung:	n/a	n/a
34	BACH1	chr5:37553100-37553687	K562	blood:	n/a	n/a
35	BACH1	chr5:37512136-37512171	K562	blood:	n/a	n/a
36	BACH1	chr5:37371532-37371839	K562	blood:	n/a	n/a
37	BATF	chr5:37379223-37379461	GM12878	blood:	n/a	n/a
38	BATF	chr5:37413135-37413360	GM12878	blood:	n/a	n/a
39	BCL11A	chr5:37436356-37436593	GM12878	blood:	n/a	n/a
40	BCL3	chr5:37370886-37371778	A549	lung:	n/a	chr5:37371215-37371224
41	BCL3	chr5:37379009-37379598	A549	lung:	n/a	n/a
42	BCL3	chr5:37379056-37379575	A549	lung:	n/a	n/a
43	BCL3	chr5:37370732-37371729	A549	lung:	n/a	chr5:37371215-37371224
44	BCLAF1	chr5:37379017-37379502	K562	blood:	n/a	n/a
45	BCLAF1	chr5:37370930-37371950	GM12878	blood:	n/a	chr5:37371215-37371224
46	BCLAF1	chr5:37379021-37379585	GM12878	blood:	n/a	n/a
47	BCLAF1	chr5:37379111-37379567	GM12878	blood:	n/a	n/a
48	BCLAF1	chr5:37370979-37371786	GM12878	blood:	n/a	chr5:37371215-37371224
49	BCLAF1	chr5:37379066-37379572	K562	blood:	n/a	n/a
50	BHLHE40	chr5:37379174-37379470	GM12878	blood:	n/a	n/a

(count:1648 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37371628-37371678	HRE	kidney:	n/a
2	chr5:37371628-37371678	HRE	kidney:	n/a
3	chr5:37379461-37379511	HAEpiC	amniotic membrane:	n/a
4	chr5:37378050-37378100	HCPEpiC	choroid plexus:	n/a
5	chr5:37484025-37484075	AG10803	skin:	n/a
6	chr5:37379374-37379424	CMK	blood:	n/a
7	chr5:37371047-37371097	ProgFib	skin:	n/a
8	chr5:37378272-37378322	NHBE	bronchial:	n/a
9	chr5:37379396-37379446	AoSMC	blood vessel:	n/a
10	chr5:37371213-37371263	GM06990	blood:	n/a
11	chr5:37378360-37378410	HEK293	kidney:	embryo
12	chr5:37379396-37379446	HPAEpiC	pulmonary alveolar:	n/a
13	chr5:37379822-37379872	HPAEpiC	pulmonary alveolar:	n/a
14	chr5:37371628-37371678	NHBE	bronchial:	n/a
15	chr5:37371192-37371242	HCPEpiC	choroid plexus:	n/a
16	chr5:37378229-37378279	GM06990	blood:	n/a
17	chr5:37378229-37378279	K562	blood:	n/a
18	chr5:37379822-37379872	HRCEpiC	kidney:	n/a
19	chr5:37371056-37371106	HRCEpiC	kidney:	n/a
20	chr5:37371179-37371229	AG09319	gingival:	n/a
21	chr5:37371555-37371605	NT2-D1	testis:	n/a
22	chr5:37371628-37371678	GM12892	blood:	n/a
23	chr5:37379374-37379424	Caco-2	colon:	n/a
24	chr5:37379267-37379317	MCF10A-Er-Src	breast:	n/a
25	chr5:37371056-37371106	GM12878	blood:	n/a
26	chr5:37371179-37371229	SKMC	muscle:	n/a
27	chr5:37379374-37379424	A549	lung:	n/a
28	chr5:37370947-37370997	SK-N-SH	brain:	n/a
29	chr5:37371056-37371106	HCT-116	colon:	n/a
30	chr5:37371628-37371678	HepG2	liver:	n/a
31	chr5:37382801-37382851	H1-hESC	embryonic stem cell:	embryo
32	chr5:37371192-37371242	NHBE	bronchial:	n/a
33	chr5:37371056-37371106	HEK293	kidney:	embryo
34	chr5:37378272-37378322	AoSMC	blood vessel:	n/a
35	chr5:37484025-37484075	SK-N-SH_RA	brain:	n/a
36	chr5:37371082-37371132	PANC-1	pancreas:	n/a
37	chr5:37378229-37378279	HRPEpiC	eye:	n/a
38	chr5:37370947-37370997	GM12891	blood:	n/a
39	chr5:37371082-37371132	HRE	kidney:	n/a
40	chr5:37371192-37371242	RPTEC	kidney:	n/a
41	chr5:37379822-37379872	MCF10A-Er-Src	breast:	n/a
42	chr5:37371047-37371097	AG10803	skin:	n/a
43	chr5:37379461-37379511	MCF10A-Er-Src	breast:	n/a
44	chr5:37379272-37379322	U87	brain:	n/a
45	chr5:37378272-37378322	AG09319	gingival:	n/a
46	chr5:37370967-37371017	HRPEpiC	eye:	n/a
47	chr5:37371628-37371678	IMR90	lung:	fetal
48	chr5:37371192-37371242	SK-N-SH_RA	brain:	n/a
49	chr5:37379267-37379317	ECC-1	luminal epithelium:	n/a
50	chr5:37379267-37379317	HEK293	kidney:	embryo

(count:87 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:37423699..37426165-chr5:37428640..37431370,2	MCF-7	breast:
2	chr5:37536707..37538331-chr5:37538401..37541156,2	K562	blood:
3	chr5:37412852..37413708-chr5:37554717..37555628,3	MCF-7	breast:
4	chr5:37536707..37538331-chr5:37538401..37541156,2	K562	blood:
5	chr5:37397085..37398718-chr5:37402352..37404618,2	MCF-7	breast:
6	chr17:61358570..61359089-chr5:37412803..37413392,2	MCF-7	breast:
7	chr5:37412794..37413863-chr5:38192922..38193865,5	K562	blood:
8	chr5:37543508..37545182-chr5:37552537..37554107,2	K562	blood:
9	chr5:37440538..37443537-chr5:37502324..37504824,2	K562	blood:
10	chr5:37379216..37379885-chr6:58287233..58287739,2	Hela-S3	cervix:
11	chr5:37370692..37371320-chr5:72794239..72794798,2	Hela-S3	cervix:
12	chr5:37412768..37413768-chr5:38192655..38193859,13	MCF-7	breast:
13	chr5:37553408..37554969-chr5:37565315..37567049,2	K562	blood:
14	chr5:37413185..37413702-chr5:37723532..37724165,2	MCF-7	breast:
15	chr5:37369760..37372730-chr5:37375256..37380889,7	MCF-7	breast:
16	chr19:10443916..10444436-chr5:37370772..37371335,2	NB4	blood:
17	chr5:37402668..37405027-chr5:37408741..37410429,2	K562	blood:
18	chr5:37503334..37505446-chr5:37509179..37510910,2	K562	blood:
19	chr5:37397085..37398718-chr5:37402352..37404618,2	MCF-7	breast:
20	chr5:37389025..37391631-chr5:37392336..37394905,2	K562	blood:
21	chr2:61404229..61405117-chr5:37371163..37371819,2	Hela-S3	cervix:
22	chr5:37550784..37553523-chr5:37560304..37561961,2	MCF-7	breast:
23	chr5:37412783..37413436-chr5:37723453..37724202,2	K562	blood:
24	chr5:37551924..37555267-chr5:37556271..37558320,3	K562	blood:
25	chr5:37378209..37381818-chr5:37388003..37389859,3	K562	blood:
26	chr5:37551824..37554603-chr5:37555317..37558093,4	K562	blood:
27	chr1:117601635..117602147-chr5:37379314..37380058,2	Hela-S3	cervix:
28	chr5:37389025..37391631-chr5:37392336..37394905,2	K562	blood:
29	chr5:37509914..37511896-chr5:37518755..37521412,2	K562	blood:
30	chr5:37370037..37373489-chr5:37377973..37381470,5	K562	blood:
31	chr5:37440538..37443537-chr5:37502324..37504824,2	K562	blood:
32	chr5:37551824..37554603-chr5:37555317..37558093,4	K562	blood:
33	chr5:37550616..37553710-chr5:37559318..37562633,4	K562	blood:
34	chr14:24564579..24565089-chr5:37371292..37372060,2	NB4	blood:
35	chr5:37369760..37372730-chr5:37375256..37380889,7	MCF-7	breast:
36	chr5:37496762..37498368-chr5:37500019..37501730,2	MCF-7	breast:
37	chr5:37550272..37552016-chr5:37552928..37554782,2	MCF-7	breast:
38	chr5:37412825..37413381-chr5:37926629..37927147,2	MCF-7	breast:
39	chr5:37550272..37552016-chr5:37552928..37554782,2	MCF-7	breast:
40	chr5:37488881..37490858-chr5:37567347..37569058,2	K562	blood:
41	chr5:37369538..37373129-chr5:37377393..37380859,4	MCF-7	breast:
42	chr5:37412738..37413377-chr5:38194610..38195311,2	MCF-7	breast:
43	chr5:37395673..37397370-chr5:37410862..37413241,2	MCF-7	breast:
44	chr5:37541266..37543534-chr5:37545440..37547559,2	K562	blood:
45	chr5:37438128..37441611-chr5:37451601..37454118,3	K562	blood:
46	chr5:37495029..37495917-chr5:37837475..37838072,2	MCF-7	breast:
47	chr5:37370037..37373489-chr5:37377973..37381470,5	K562	blood:
48	chr5:37370138..37373249-chr5:37374935..37377740,7	K562	blood:
49	chr5:37402028..37404137-chr5:37405155..37406834,2	K562	blood:
50	chr5:37412806..37413850-chr5:37900474..37901433,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NIPBL-7	chr5:37379404-37379494	NONHSAT101065
2	lnc-WDR70-4	chr5:37377151-37377385	NONHSAT101062
3	lnc-NIPBL-7	chr5:37381704-37381911	NONHSAT101065
4	lnc-WDR70-4	chr5:37377986-37378073	NONHSAT101062
5	lnc-NIPBL-7	chr5:37379591-37379656	NONHSAT101065
6	lnc-NUP155-5	chr5:37505790-37506959	NONHSAT101066

No data

Variant related genes	Relation type
ENSG00000250455	TF binding region
WDR70	TF binding region
ENSG00000248216	TF binding region
NUP155	TF binding region
ENSG00000250455	CpG island
WDR70	CpG island
ENSG00000248216	CpG island
NUP155	CpG island
ENSG00000082068	chromatin interactions
ENSG00000173209	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000113569	chromatin interactions
ENSG00000253513	chromatin interactions
ENSG00000183666	chromatin interactions
ENSG00000236137	chromatin interactions
ENSG00000154222	chromatin interactions
ENSG00000272173	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000248587	chromatin interactions
ENSG00000250455	chromatin interactions
ENSG00000104549	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000145741	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000164190	chromatin interactions
ENSG00000215190	chromatin interactions

Extended variants
information (count: 7036 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:7036 , 50 per page) page: 1 2 3 4 5 6 7 ... 141

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11955258	chr5:37369958-37369959	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149495230	chr5:37369977-37369978	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs559088040	chr5:37369985-37369986	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs143958895	chr5:37369989-37369990	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs181457438	chr5:37370047-37370048	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs556408552	chr5:37370062-37370063	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs574894739	chr5:37370091-37370092	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs533502159	chr5:37370106-37370107	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs12054703	chr5:37370120-37370121	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs148599938	chr5:37370196-37370197	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs217841	chr5:37370235-37370236	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147316941	chr5:37370254-37370255	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs565105929	chr5:37370319-37370320	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs532319403	chr5:37370337-37370338	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs199803420	chr5:37370343-37370344	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs185332658	chr5:37370354-37370355	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs550011158	chr5:37370371-37370372	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562732454	chr5:37370436-37370437	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs530159587	chr5:37370484-37370485	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs147431587	chr5:37370486-37370487	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs57574793	chr5:37370489-37370490	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs375022060	chr5:37370491-37370492	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs560144535	chr5:37370506-37370507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs181486046	chr5:37370509-37370510	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs35097747	chr5:37370595-37370596	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs186483433	chr5:37370607-37370608	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs373013374	chr5:37370622-37370623	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs570730341	chr5:37370625-37370626	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs542407342	chr5:37370661-37370662	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs538000602	chr5:37370720-37370721	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs372907708	chr5:37370747-37370748	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs531544614	chr5:37370748-37370749	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs568405553	chr5:37370768-37370769	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs189657877	chr5:37370798-37370799	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs116689196	chr5:37370809-37370810	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs572716686	chr5:37370847-37370848	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs533911199	chr5:37370853-37370854	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs201569181	chr5:37370894-37370895	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs141057923	chr5:37370901-37370902	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs201786682	chr5:37370907-37370908	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs541328951	chr5:37370908-37370909	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs144801440	chr5:37370926-37370927	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs371123499	chr5:37370947-37370948	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs201262273	chr5:37370953-37370954	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs559340477	chr5:37371003-37371004	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs147865299	chr5:37371036-37371037	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs373410066	chr5:37371040-37371041	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs560548533	chr5:37371056-37371057	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs61756070	chr5:37371059-37371060	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs201875454	chr5:37371081-37371082	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:3265 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37337400-37370000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:37340800-37370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:37347400-37370000	Weak transcription	Aorta	Aorta
4	chr5:37357000-37370000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:37358200-37370200	Weak transcription	Esophagus	oesophagus
6	chr5:37358400-37370200	Weak transcription	Left Ventricle	heart
7	chr5:37364600-37370400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:37368000-37370000	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr5:37368200-37370000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:37368200-37370200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr5:37368600-37370000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:37368800-37370000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr5:37368800-37370000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr5:37368800-37370000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:37368800-37370000	Enhancers	Brain Anterior Caudate	brain
16	chr5:37368800-37370000	Flanking Active TSS	GM12878-XiMat	blood
17	chr5:37368800-37370000	Transcr. at gene 5' and 3'	Hela-S3	cervix
18	chr5:37368800-37370200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:37368800-37370200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr5:37368800-37370200	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr5:37368800-37370200	Enhancers	Spleen	Spleen
22	chr5:37369000-37370000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:37369000-37370000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr5:37369000-37370000	Enhancers	Liver	Liver
25	chr5:37369000-37370000	Flanking Active TSS	NHDF-Ad	bronchial
26	chr5:37369000-37370200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:37369000-37370200	Enhancers	Primary B cells from peripheral blood	blood
28	chr5:37369000-37370200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr5:37369000-37370200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:37369000-37370400	Enhancers	Small Intestine	intestine
31	chr5:37369200-37370000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:37369200-37370000	Enhancers	Primary B cells from cord blood	blood
33	chr5:37369200-37370000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:37369200-37370000	Enhancers	Brain Substantia Nigra	brain
35	chr5:37369200-37370000	Weak transcription	Placenta	Placenta
36	chr5:37369200-37370000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr5:37369200-37370200	Weak transcription	Pancreas	Pancrea
38	chr5:37369200-37370200	Flanking Active TSS	NHEK	skin
39	chr5:37369200-37370400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:37369200-37370400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr5:37369200-37370600	Flanking Active TSS	Fetal Brain Female	brain
42	chr5:37369200-37372200	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr5:37369200-37372400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr5:37369400-37370000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr5:37369400-37370000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr5:37369400-37370000	Enhancers	Brain Cingulate Gyrus	brain
47	chr5:37369400-37370000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr5:37369400-37370000	Transcr. at gene 5' and 3'	A549	lung
49	chr5:37369400-37370200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:37369400-37370200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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