Variant report

Variant	nsv888773
Chromosome Location	chr7:99751594-99772298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1447)
CpG islands
(count:1771)
Chromatin interactive
region (count:85)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:2)

(count:1447 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:99755415-99755594	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:99765530-99765812	K562	blood:	n/a	n/a
3	ARID3A	chr7:99766259-99766444	K562	blood:	n/a	chr7:99766295-99766310
4	ARID3A	chr7:99756360-99756685	K562	blood:	n/a	n/a
5	ARID3A	chr7:99754909-99755096	K562	blood:	n/a	n/a
6	ATF1	chr7:99755007-99755673	K562	blood:	n/a	n/a
7	ATF1	chr7:99765519-99765767	K562	blood:	n/a	n/a
8	ATF2	chr7:99754930-99755417	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr7:99756130-99756389	GM12878	blood:	n/a	n/a
10	ATF2	chr7:99755938-99756454	GM12878	blood:	n/a	n/a
11	ATF3	chr7:99755249-99755740	K562	blood:	n/a	n/a
12	ATF3	chr7:99760729-99760978	K562	blood:	n/a	n/a
13	ATF3	chr7:99755376-99755652	K562	blood:	n/a	n/a
14	ATF3	chr7:99756281-99757074	K562	blood:	n/a	chr7:99756408-99756417
15	BACH1	chr7:99756472-99756592	K562	blood:	n/a	n/a
16	BACH1	chr7:99768819-99768999	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL11A	chr7:99756177-99756568	GM12878	blood:	n/a	chr7:99756447-99756460
18	BCL3	chr7:99755115-99755640	A549	lung:	n/a	n/a
19	BCL3	chr7:99755964-99756661	A549	lung:	n/a	chr7:99756447-99756460
20	BCL3	chr7:99754632-99755636	A549	lung:	n/a	chr7:99754978-99754991
21	BCL3	chr7:99755867-99756537	GM12878	blood:	n/a	chr7:99756447-99756460
22	BCL3	chr7:99756051-99756621	A549	lung:	n/a	chr7:99756447-99756460
23	BCLAF1	chr7:99755894-99756606	GM12878	blood:	n/a	chr7:99756447-99756460
24	BHLHE40	chr7:99764901-99765826	K562	blood:	n/a	n/a
25	BHLHE40	chr7:99760802-99760980	K562	blood:	n/a	n/a
26	BHLHE40	chr7:99756217-99756551	GM12878	blood:	n/a	n/a
27	BHLHE40	chr7:99756959-99757124	K562	blood:	n/a	n/a
28	BHLHE40	chr7:99766360-99766364	K562	blood:	n/a	n/a
29	BHLHE40	chr7:99754866-99755611	K562	blood:	n/a	n/a
30	BHLHE40	chr7:99754370-99754568	K562	blood:	n/a	n/a
31	BHLHE40	chr7:99756214-99756647	K562	blood:	n/a	n/a
32	BRCA1	chr7:99755419-99755583	HepG2	liver:	n/a	n/a
33	BRCA1	chr7:99756320-99756455	HepG2	liver:	n/a	n/a
34	BRCA1	chr7:99766774-99767016	HepG2	liver:	n/a	n/a
35	BRCA1	chr7:99756346-99756633	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr7:99766055-99766739	K562	blood:	n/a	n/a
37	CBX3	chr7:99765397-99765866	K562	blood:	n/a	n/a
38	CBX3	chr7:99756146-99756788	K562	blood:	n/a	n/a
39	CBX3	chr7:99754782-99755710	K562	blood:	n/a	n/a
40	CBX3	chr7:99753481-99753867	K562	blood:	n/a	n/a
41	CBX3	chr7:99756834-99757181	K562	blood:	n/a	n/a
42	CCNT2	chr7:99766179-99766343	K562	blood:	n/a	n/a
43	CCNT2	chr7:99754834-99756611	K562	blood:	n/a	chr7:99755193-99755202 chr7:99755091-99755100 chr7:99756408-99756417
44	CCNT2	chr7:99764900-99765160	K562	blood:	n/a	n/a
45	CCNT2	chr7:99765437-99765910	K562	blood:	n/a	chr7:99765780-99765789
46	CCNT2	chr7:99753024-99753078	K562	blood:	n/a	n/a
47	CEBPB	chr7:99755377-99755714	IMR90	lung:	n/a	n/a
48	CEBPB	chr7:99755234-99755740	HepG2	liver:	n/a	n/a
49	CEBPB	chr7:99765773-99765873	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr7:99755252-99755692	HepG2	liver:	n/a	n/a

(count:1771 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99765818-99765868	SK-N-MC	brain:	n/a
2	chr7:99761053-99761103	T-47D	breast:	n/a
3	chr7:99765818-99765868	SK-N-MC	brain:	n/a
4	chr7:99761053-99761103	T-47D	breast:	n/a
5	chr7:99756019-99756069	Hela-S3	cervix:	n/a
6	chr7:99769118-99769168	SK-N-SH	brain:	n/a
7	chr7:99769558-99769608	HNPCEpiC	eye:	n/a
8	chr7:99769602-99769652	U87	brain:	n/a
9	chr7:99766467-99766517	GM12892	blood:	n/a
10	chr7:99752629-99752679	Jurkat	blood:	n/a
11	chr7:99769118-99769168	BJ	skin:	n/a
12	chr7:99769432-99769482	U87	brain:	n/a
13	chr7:99756458-99756508	H1-hESC	embryonic stem cell:	embryo
14	chr7:99768028-99768078	ECC-1	luminal epithelium:	n/a
15	chr7:99766376-99766426	MCF-7	breast:	n/a
16	chr7:99766655-99766705	NHBE	bronchial:	n/a
17	chr7:99766203-99766253	NH-A	brain:	n/a
18	chr7:99756019-99756069	PrEC	prostate:	n/a
19	chr7:99757654-99757704	PFSK-1	brain:	n/a
20	chr7:99751594-99751644	A549	lung:	n/a
21	chr7:99761767-99761817	U87	brain:	n/a
22	chr7:99769118-99769168	U87	brain:	n/a
23	chr7:99768885-99768935	GM06990	blood:	n/a
24	chr7:99751594-99751644	NB4	blood:	n/a
25	chr7:99753892-99753942	SKMC	muscle:	n/a
26	chr7:99751594-99751644	HCT-116	colon:	n/a
27	chr7:99757800-99757850	HMEC	breast:	n/a
28	chr7:99769602-99769652	AG04449	skin:	fetal
29	chr7:99769558-99769608	SK-N-MC	brain:	n/a
30	chr7:99755680-99755730	BJ	skin:	n/a
31	chr7:99752629-99752679	IMR90	lung:	fetal
32	chr7:99756458-99756508	IMR90	lung:	fetal
33	chr7:99769602-99769652	HCF	heart:	n/a
34	chr7:99769602-99769652	NHDF-neo	bronchial:	n/a
35	chr7:99756458-99756508	HEK293	kidney:	embryo
36	chr7:99752629-99752679	HAEpiC	amniotic membrane:	n/a
37	chr7:99766467-99766517	AG10803	skin:	n/a
38	chr7:99755680-99755730	AoSMC	blood vessel:	n/a
39	chr7:99752629-99752679	Hela-S3	cervix:	n/a
40	chr7:99757083-99757133	HAEpiC	amniotic membrane:	n/a
41	chr7:99755680-99755730	GM12891	blood:	n/a
42	chr7:99767035-99767085	K562	blood:	n/a
43	chr7:99765818-99765868	HRPEpiC	eye:	n/a
44	chr7:99771583-99771633	AG09319	gingival:	n/a
45	chr7:99766467-99766517	PFSK-1	brain:	n/a
46	chr7:99752629-99752679	ECC-1	luminal epithelium:	n/a
47	chr7:99757800-99757850	T-47D	breast:	n/a
48	chr7:99767035-99767085	HCPEpiC	choroid plexus:	n/a
49	chr7:99766376-99766426	HCPEpiC	choroid plexus:	n/a
50	chr7:99769602-99769652	SK-N-SH	brain:	n/a

(count:85 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:99717080..99719832-chr7:99772182..99775023,2	MCF-7	breast:
2	chr7:99767104..99770027-chr7:99772999..99775636,2	MCF-7	breast:
3	chr7:99754046..99756900-chr7:100023826..100027525,3	MCF-7	breast:
4	chr7:99697813..99699530-chr7:99754761..99757399,3	MCF-7	breast:
5	chr7:99753966..99755669-chr7:99756075..99758782,2	MCF-7	breast:
6	chr7:99699304..99700877-chr7:99754815..99757179,2	K562	blood:
7	chr7:99753476..99755824-chr7:99801511..99804012,2	MCF-7	breast:
8	chr7:99754767..99758198-chr7:99759049..99763228,6	MCF-7	breast:
9	chr7:99723244..99725876-chr7:99754639..99757048,2	K562	blood:
10	chr7:99722989..99725299-chr7:99765858..99767612,2	MCF-7	breast:
11	chr7:99753966..99755669-chr7:99756075..99758782,2	MCF-7	breast:
12	chr7:99752857..99757651-chr7:99763240..99770051,14	MCF-7	breast:
13	chr7:99708863..99711392-chr7:99752836..99754442,2	K562	blood:
14	chr7:99754722..99756227-chr7:99770103..99772274,2	MCF-7	breast:
15	chr7:99724063..99726491-chr7:99755814..99759003,3	K562	blood:
16	chr7:99759440..99762424-chr7:99762477..99764332,2	K562	blood:
17	chr7:99677781..99680960-chr7:99753334..99755747,3	K562	blood:
18	chr7:99750795..99756202-chr7:99762627..99766634,7	K562	blood:
19	chr7:99753295..99755968-chr7:99764966..99767548,3	K562	blood:
20	chr7:99755258..99758996-chr7:99773394..99775783,3	MCF-7	breast:
21	chr7:99759440..99762424-chr7:99762477..99764332,2	K562	blood:
22	chr7:99756435..99758861-chr7:99763048..99766609,5	K562	blood:
23	chr7:99767011..99769810-chr7:99997937..100000138,2	MCF-7	breast:
24	chr7:99754799..99757162-chr7:99770359..99773122,3	MCF-7	breast:
25	chr7:99752659..99755597-chr7:99969374..99971671,2	K562	blood:
26	chr7:99754799..99757162-chr7:99770359..99773122,3	MCF-7	breast:
27	chr7:99750253..99753026-chr7:99768043..99770127,2	MCF-7	breast:
28	chr16:2906493..2908640-chr7:99756107..99758046,2	MCF-7	breast:
29	chr7:99754403..99756202-chr7:99762627..99764486,3	K562	blood:
30	chr7:99753605..99756389-chr7:100024404..100026585,2	MCF-7	breast:
31	chr7:99758919..99761962-chr7:99764565..99766487,3	K562	blood:
32	chr7:99771880..99773648-chr7:99773808..99775358,2	MCF-7	breast:
33	chr7:99761601..99763212-chr7:99780948..99783504,2	K562	blood:
34	chr7:99687112..99688641-chr7:99751330..99752902,2	K562	blood:
35	chr7:99688297..99690647-chr7:99759308..99762141,2	K562	blood:
36	chr7:99764650..99767201-chr7:99768632..99771682,4	MCF-7	breast:
37	chr7:99751690..99753574-chr7:99764837..99766531,2	MCF-7	breast:
38	chr7:99723137..99724861-chr7:99755536..99757192,3	MCF-7	breast:
39	chr7:99696898..99700086-chr7:99750657..99754674,4	MCF-7	breast:
40	chr7:99750795..99756202-chr7:99762627..99766634,7	K562	blood:
41	chr7:99696160..99699295-chr7:99753963..99757907,4	K562	blood:
42	chr7:99753295..99755968-chr7:99764966..99767548,3	K562	blood:
43	chr7:99702646..99704565-chr7:99753499..99755583,2	K562	blood:
44	chr7:99690528..99692803-chr7:99751485..99754515,3	MCF-7	breast:
45	chr7:99749770..99752333-chr7:99765768..99768227,2	MCF-7	breast:
46	chr7:99750253..99753026-chr7:99768043..99770127,2	MCF-7	breast:
47	chr7:99760302..99763071-chr7:99770976..99773286,2	K562	blood:
48	chr7:99587817..99590250-chr7:99755042..99756960,2	K562	blood:
49	chr7:99720651..99722811-chr7:99761432..99764330,2	K562	blood:
50	chr7:99760958..99763450-chr7:99810400..99812602,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBLAC1-3	chr7:99753199-99753567	NONHSAT122335

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4658	chr7:99754234-99754256	MIMAT0019725

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	C7orf59	hsa-miR-16-5p	chr7:99751656-99751677
2	C7orf59	hsa-miR-424-5p	chr7:99751656-99751677

Variant related genes	Relation type
GPC2	TF binding region
GAL3ST4	TF binding region
C7orf43	TF binding region
STAG3	TF binding region
MIR4658	TF binding region
GPC2	CpG island
GAL3ST4	CpG island
C7orf43	CpG island
STAG3	CpG island
MIR4658	CpG island
ENSG00000235713	chromatin interactions
ENSG00000207757	chromatin interactions
ENSG00000168090	chromatin interactions
ENSG00000235077	chromatin interactions
ENSG00000085514	chromatin interactions
ENSG00000242294	chromatin interactions
ENSG00000197093	chromatin interactions
ENSG00000166997	chromatin interactions
ENSG00000272752	chromatin interactions
ENSG00000207547	chromatin interactions
ENSG00000188186	chromatin interactions
ENSG00000146826	chromatin interactions
ENSG00000106290	chromatin interactions
ENSG00000166508	chromatin interactions
ENSG00000121716	chromatin interactions
ENSG00000166526	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000131023	chromatin interactions
ENSG00000208036	chromatin interactions
ENSG00000005001	chromatin interactions
ENSG00000242798	chromatin interactions
ENSG00000214142	chromatin interactions
ENSG00000066923	chromatin interactions
ENSG00000221838	chromatin interactions
ENSG00000214309	chromatin interactions
ENSG00000213420	chromatin interactions
ENSG00000266154	chromatin interactions
ENSG00000263325	chromatin interactions

Extended variants
information (count: 901 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:901 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111773951	chr7:99751594-99751595	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs539559227	chr7:99751600-99751601	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs201650599	chr7:99751608-99751609	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs77496317	chr7:99751610-99751611	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs3208226	chr7:99751612-99751613	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs1059870	chr7:99751615-99751616	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs371016997	chr7:99751617-99751618	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs11540424	chr7:99751630-99751631	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs185978679	chr7:99751659-99751660	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region miRNA target site	13 gene(s)	Overlapped CNVs	n/a
10	rs117976447	chr7:99751660-99751661	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region miRNA target site	13 gene(s)	Overlapped CNVs	n/a
11	rs1059875	chr7:99751678-99751679	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs1059880	chr7:99751691-99751692	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs544539361	chr7:99751699-99751700	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs1059882	chr7:99751701-99751702	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs79362363	chr7:99751709-99751710	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs371077731	chr7:99751737-99751738	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs704796	chr7:99751741-99751742	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs371148319	chr7:99751772-99751773	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs191321919	chr7:99751776-99751777	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs146321633	chr7:99751789-99751790	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs139716466	chr7:99751833-99751834	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs183075155	chr7:99751879-99751880	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs73397503	chr7:99751880-99751881	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536801543	chr7:99751902-99751903	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs145426036	chr7:99751925-99751926	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs71569533	chr7:99751976-99751977	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs529202076	chr7:99752044-99752045	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs550569963	chr7:99752062-99752063	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs375718651	chr7:99752134-99752135	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs555280457	chr7:99752158-99752159	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs539477437	chr7:99752184-99752185	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs35710888	chr7:99752222-99752223	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs149215771	chr7:99752256-99752257	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs13230847	chr7:99752258-99752259	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs368722843	chr7:99752274-99752275	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs573867002	chr7:99752307-99752308	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs566618973	chr7:99752331-99752332	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs1045937	chr7:99752336-99752337	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs533827302	chr7:99752354-99752355	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs555937939	chr7:99752410-99752411	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs574118270	chr7:99752411-99752412	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs544911959	chr7:99752412-99752413	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs541011415	chr7:99752422-99752423	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs142433014	chr7:99752423-99752424	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs187471718	chr7:99752434-99752435	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs545046833	chr7:99752457-99752458	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs560068545	chr7:99752473-99752474	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs527787539	chr7:99752477-99752478	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs542720050	chr7:99752505-99752506	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs561939019	chr7:99752533-99752534	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:1943 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99747400-99753000	Weak transcription	Ovary	ovary
2	chr7:99747400-99753000	Weak transcription	HSMM	muscle
3	chr7:99747400-99753400	Weak transcription	HSMMtube	muscle
4	chr7:99747400-99754600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:99747400-99754600	Weak transcription	Fetal Heart	heart
6	chr7:99747400-99754600	Weak transcription	Right Atrium	heart
7	chr7:99747400-99755200	Weak transcription	Psoas Muscle	Psoas
8	chr7:99747400-99755600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:99747600-99753400	Weak transcription	NH-A	brain
10	chr7:99747800-99753400	Weak transcription	Fetal Kidney	kidney
11	chr7:99747800-99754600	Weak transcription	HUVEC	blood vessel
12	chr7:99748000-99751600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:99748000-99753400	Weak transcription	Brain Angular Gyrus	brain
14	chr7:99748000-99755200	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr7:99748200-99753400	Weak transcription	NHDF-Ad	bronchial
16	chr7:99748200-99754200	Weak transcription	Fetal Brain Male	brain
17	chr7:99749000-99754400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:99749000-99754400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:99749200-99752600	Strong transcription	Lung	lung
20	chr7:99749200-99753800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:99749200-99754400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr7:99749200-99754600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:99749200-99755000	Genic enhancers	Fetal Intestine Large	intestine
24	chr7:99749400-99751600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:99749400-99751800	Genic enhancers	GM12878-XiMat	blood
26	chr7:99749400-99752200	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr7:99749400-99752400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:99749400-99752400	Strong transcription	Brain Cingulate Gyrus	brain
29	chr7:99749400-99752600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:99749400-99752600	Enhancers	HepG2	liver
31	chr7:99749400-99754200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:99749400-99754200	Strong transcription	Fetal Muscle Leg	muscle
33	chr7:99749400-99754400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr7:99749400-99754400	Genic enhancers	Placenta	Placenta
35	chr7:99749400-99754600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:99749400-99754600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:99749400-99754600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr7:99749400-99754600	Strong transcription	Fetal Stomach	stomach
39	chr7:99749400-99754800	Genic enhancers	Fetal Intestine Small	intestine
40	chr7:99749400-99754800	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:99749600-99751800	Genic enhancers	K562	blood
42	chr7:99749600-99752600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:99749600-99753800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:99749600-99754600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:99749600-99754600	Strong transcription	Brain Anterior Caudate	brain
46	chr7:99749800-99753200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr7:99750000-99752000	Genic enhancers	Primary T cells from cord blood	blood
48	chr7:99750000-99752000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:99750000-99754800	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr7:99750200-99752200	Genic enhancers	Stomach Smooth Muscle	stomach

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