Variant report

Variant	nsv831610
Chromosome Location	chr9:71846941-72016835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1048)
CpG islands
(count:857)
Chromatin interactive
region (count:87)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:1048 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr9:71893376-71893624	GM12878	blood:	n/a	n/a
2	ATF2	chr9:71922325-71923009	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr9:71893929-71894313	GM12878	blood:	n/a	n/a
4	ATF2	chr9:72000551-72001059	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr9:72000592-72001076	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr9:71922334-71923161	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr9:71940105-71940113	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr9:71893364-71893636	GM12878	blood:	n/a	n/a
9	BATF	chr9:71893984-71894344	GM12878	blood:	n/a	n/a
10	BATF	chr9:71893950-71894312	GM12878	blood:	n/a	n/a
11	BATF	chr9:71893358-71893642	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:71893990-71894275	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:71922747-71923029	H1-hESC	embryonic stem cell:	n/a	chr9:71922762-71922771
14	BCL11A	chr9:71922734-71922966	H1-hESC	embryonic stem cell:	n/a	chr9:71922762-71922771
15	BCL11A	chr9:71894036-71894271	GM12878	blood:	n/a	n/a
16	BHLHE40	chr9:71933111-71933118	GM12878	blood:	n/a	n/a
17	BHLHE40	chr9:71893376-71893539	GM12878	blood:	n/a	n/a
18	BHLHE40	chr9:71998366-71998558	K562	blood:	n/a	n/a
19	BRCA1	chr9:71939386-71939797	H1-hESC	embryonic stem cell:	n/a	n/a
20	CBX3	chr9:71927850-71928440	K562	blood:	n/a	n/a
21	CEBPB	chr9:71947205-71947671	H1-hESC	embryonic stem cell:	n/a	chr9:71947401-71947412
22	CEBPB	chr9:71961429-71961895	MCF-7	breast:	n/a	chr9:71961721-71961734
23	CEBPB	chr9:71924790-71925124	IMR90	lung:	n/a	chr9:71924939-71924950
24	CEBPB	chr9:71947097-71947676	A549	lung:	n/a	chr9:71947401-71947412
25	CEBPB	chr9:71947205-71947627	ECC-1	luminal epithelium:	n/a	chr9:71947401-71947412
26	CEBPB	chr9:71947219-71947631	A549	lung:	n/a	chr9:71947401-71947412
27	CEBPB	chr9:71873504-71873772	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr9:71873535-71873780	A549	lung:	n/a	n/a
29	CEBPB	chr9:71947210-71947660	ECC-1	luminal epithelium:	n/a	chr9:71947401-71947412
30	CEBPB	chr9:71998060-71998268	HepG2	liver:	n/a	n/a
31	CEBPB	chr9:71873511-71873756	K562	blood:	n/a	n/a
32	CEBPB	chr9:71949317-71949531	HepG2	liver:	n/a	chr9:71949437-71949448 chr9:71949437-71949450
33	CEBPB	chr9:71947126-71947681	MCF-7	breast:	n/a	chr9:71947401-71947412
34	CEBPB	chr9:71947215-71947595	HepG2	liver:	n/a	chr9:71947401-71947412
35	CEBPB	chr9:71924820-71925127	A549	lung:	n/a	chr9:71924939-71924950
36	CEBPB	chr9:71907486-71907775	HepG2	liver:	n/a	chr9:71907739-71907750
37	CEBPB	chr9:71947213-71947599	A549	lung:	n/a	chr9:71947401-71947412
38	CEBPB	chr9:71969151-71969182	A549	lung:	n/a	n/a
39	CEBPB	chr9:71949235-71949647	MCF-7	breast:	n/a	chr9:71949437-71949448 chr9:71949437-71949450
40	CEBPB	chr9:71947181-71947600	MCF-7	breast:	n/a	chr9:71947401-71947412
41	CEBPB	chr9:72009741-72009916	HepG2	liver:	n/a	n/a
42	CEBPB	chr9:71947219-71947595	Hela-S3	cervix:	n/a	chr9:71947401-71947412
43	CEBPB	chr9:71977846-71978131	IMR90	lung:	n/a	chr9:71977999-71978010 chr9:71977999-71978010 chr9:71977999-71978012 chr9:71977998-71978015 chr9:71977999-71978012
44	CEBPB	chr9:71998015-71998303	IMR90	lung:	n/a	n/a
45	CEBPB	chr9:71873544-71873822	MCF-7	breast:	n/a	n/a
46	CEBPB	chr9:71991458-71991789	IMR90	lung:	n/a	n/a
47	CEBPB	chr9:71949301-71949519	A549	lung:	n/a	chr9:71949437-71949448 chr9:71949437-71949450
48	CEBPB	chr9:71873505-71873812	ECC-1	luminal epithelium:	n/a	n/a
49	CEBPB	chr9:71873555-71873808	HepG2	liver:	n/a	n/a
50	CEBPB	chr9:71924810-71925119	HepG2	liver:	n/a	chr9:71924939-71924950

(count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:71940563-71940613	Caco-2	colon:	n/a
2	chr9:71939349-71939399	A549	lung:	n/a
3	chr9:71862747-71862797	AG10803	skin:	n/a
4	chr9:71940563-71940613	Caco-2	colon:	n/a
5	chr9:71939349-71939399	A549	lung:	n/a
6	chr9:71862747-71862797	AG10803	skin:	n/a
7	chr9:71934644-71934694	NB4	blood:	n/a
8	chr9:71940287-71940337	NB4	blood:	n/a
9	chr9:71881186-71881236	MCF10A-Er-Src	breast:	n/a
10	chr9:71940287-71940337	ovcar-3	ovarian:	n/a
11	chr9:71940287-71940337	HEEpiC	esophagus:	n/a
12	chr9:71881186-71881236	AG04450	lung:	fetal
13	chr9:71863002-71863052	NT2-D1	testis:	n/a
14	chr9:71939182-71939232	HRPEpiC	eye:	n/a
15	chr9:71940563-71940613	IMR90	lung:	fetal
16	chr9:71939182-71939232	PrEC	prostate:	n/a
17	chr9:71939182-71939232	IMR90	lung:	fetal
18	chr9:71939182-71939232	HIPEpiC	eye:	n/a
19	chr9:71999962-72000012	NHDF-neo	bronchial:	n/a
20	chr9:71940287-71940337	ECC-1	luminal epithelium:	n/a
21	chr9:71934644-71934694	RPTEC	kidney:	n/a
22	chr9:71999962-72000012	HEEpiC	esophagus:	n/a
23	chr9:71936691-71936741	HRPEpiC	eye:	n/a
24	chr9:71923415-71923465	BJ	skin:	n/a
25	chr9:71999962-72000012	GM12878	blood:	n/a
26	chr9:71940287-71940337	NT2-D1	testis:	n/a
27	chr9:71881186-71881236	IMR90	lung:	fetal
28	chr9:71999962-72000012	HPAEpiC	pulmonary alveolar:	n/a
29	chr9:71863159-71863209	SK-N-SH_RA	brain:	n/a
30	chr9:71939182-71939232	HCPEpiC	choroid plexus:	n/a
31	chr9:71881186-71881236	Jurkat	blood:	n/a
32	chr9:71940287-71940337	T-47D	breast:	n/a
33	chr9:71939349-71939399	NT2-D1	testis:	n/a
34	chr9:71939182-71939232	K562	blood:	n/a
35	chr9:71862747-71862797	SKMC	muscle:	n/a
36	chr9:71863159-71863209	GM19239	blood:	n/a
37	chr9:71934644-71934694	BJ	skin:	n/a
38	chr9:71940287-71940337	Caco-2	colon:	n/a
39	chr9:71947038-71947088	Hela-S3	cervix:	n/a
40	chr9:71936691-71936741	GM19239	blood:	n/a
41	chr9:71939182-71939232	AG04450	lung:	fetal
42	chr9:71863159-71863209	AG04450	lung:	fetal
43	chr9:71999962-72000012	HCM	heart:	n/a
44	chr9:71934644-71934694	HEEpiC	esophagus:	n/a
45	chr9:71947038-71947088	PrEC	prostate:	n/a
46	chr9:71939182-71939232	NH-A	brain:	n/a
47	chr9:71881186-71881236	NH-A	brain:	n/a
48	chr9:71990127-71990177	SK-N-SH_RA	brain:	n/a
49	chr9:71923415-71923465	MCF10A-Er-Src	breast:	n/a
50	chr9:71939182-71939232	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr9:71941355..71943004-chr9:71944003..71945586,2	MCF-7	breast:
2	chr9:71877776..71879849-chr9:71881788..71883583,2	MCF-7	breast:
3	chr9:71938980..71942989-chr9:71948719..71952041,5	MCF-7	breast:
4	chr9:71864548..71866057-chr9:71866161..71868827,2	MCF-7	breast:
5	chr9:71857960..71860439-chr9:71866424..71869302,2	K562	blood:
6	chr9:71994976..71996926-chr9:72001185..72002908,2	MCF-7	breast:
7	chr9:71992876..71994758-chr9:72000665..72002258,2	MCF-7	breast:
8	chr9:71905994..71910591-chr9:71938596..71942963,12	MCF-7	breast:
9	chr9:71791754..71794017-chr9:71958010..71960976,2	K562	blood:
10	chr9:71937291..71938805-chr9:71947853..71950647,2	MCF-7	breast:
11	chr9:71902826..71905528-chr9:71906383..71908994,3	MCF-7	breast:
12	chr9:71991902..71994131-chr9:72003113..72004905,2	MCF-7	breast:
13	chr9:71938908..71941887-chr9:71950656..71952812,3	MCF-7	breast:
14	chr9:71991329..71993145-chr9:71996881..71999330,2	MCF-7	breast:
15	chr9:71950254..71952717-chr9:71953240..71956144,4	MCF-7	breast:
16	chr9:71877776..71879849-chr9:71881788..71883583,2	MCF-7	breast:
17	chr9:71991902..71994131-chr9:72003113..72004905,2	MCF-7	breast:
18	chr9:71938861..71941918-chr9:72004713..72009090,4	MCF-7	breast:
19	chr9:72000502..72003339-chr9:72007156..72008716,2	K562	blood:
20	chr9:71887365..71889715-chr9:71890239..71892748,2	K562	blood:
21	chr9:71938069..71941613-chr9:71952585..71956255,4	MCF-7	breast:
22	chr9:71995411..71998081-chr9:71998743..72001190,2	MCF-7	breast:
23	chr9:71864548..71866057-chr9:71866161..71868827,2	MCF-7	breast:
24	chr9:72008297..72012521-chr9:72012809..72015808,4	MCF-7	breast:
25	chr9:71908251..71910034-chr9:71912759..71914347,2	MCF-7	breast:
26	chr9:71938263..71940999-chr9:72013792..72015561,2	MCF-7	breast:
27	chr9:71939962..71941547-chr9:71947725..71950010,2	MCF-7	breast:
28	chr17:57696897..57697889-chr9:71940008..71940591,2	MCF-7	breast:
29	chr9:71734709..71737586-chr9:72003144..72005018,2	MCF-7	breast:
30	chr9:71810860..71813115-chr9:71939521..71941834,2	MCF-7	breast:
31	chr9:71940098..71942516-chr9:71992469..71994657,3	MCF-7	breast:
32	chr9:71850777..71853807-chr9:71854436..71856252,3	K562	blood:
33	chr9:71954955..71956543-chr9:71958327..71960224,2	MCF-7	breast:
34	chr9:71938497..71941433-chr9:71956762..71962911,7	MCF-7	breast:
35	chr9:71921096..71922922-chr9:71938216..71940056,2	MCF-7	breast:
36	chr9:71893881..71896810-chr9:71896857..71898912,2	MCF-7	breast:
37	chr9:71649254..71651788-chr9:71993811..71996699,2	MCF-7	breast:
38	chr9:71907168..71909242-chr9:71938119..71941510,4	MCF-7	breast:
39	chr9:71996842..72001188-chr9:72001690..72005051,4	MCF-7	breast:
40	chr9:71940098..71942516-chr9:71992469..71994657,3	MCF-7	breast:
41	chr9:71910612..71916795-chr9:71938109..71942701,9	MCF-7	breast:
42	chr9:71908251..71910034-chr9:71912759..71914347,2	MCF-7	breast:
43	chr9:71968952..71970818-chr9:71974121..71976015,2	K562	blood:
44	chr9:71939962..71941547-chr9:71947725..71950010,2	MCF-7	breast:
45	chr9:71905657..71909249-chr9:72003453..72006230,4	MCF-7	breast:
46	chr9:72000714..72007830-chr9:72009954..72019278,14	MCF-7	breast:
47	chr9:72008297..72012521-chr9:72012809..72015808,4	MCF-7	breast:
48	chr9:71914895..71917175-chr9:71938385..71940938,2	MCF-7	breast:
49	chr9:71937291..71938805-chr9:71947853..71950647,2	MCF-7	breast:
50	chr9:71863242..71865900-chr9:71875148..71877546,2	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APBA1-3	chr9:71911594-71911783	XLOC_007724
2	lnc-APBA1-3	chr9:71919852-71919993	XLOC_007724
3	lnc-APBA1-3	chr9:71919852-71919993	XLOC_007724
4	lnc-APBA1-3	chr9:71911597-71911783	NR_047671
5	lnc-APBA1-3	chr9:71921770-71922009	XLOC_007724
6	lnc-APBA1-3	chr9:71921064-71921206	NR_047671
7	lnc-APBA1-5	chr9:71975774-71975860	ucscGeneNc_uc004aho_1
8	lnc-APBA1-3	chr9:71921770-71922016	XLOC_007724
9	lnc-APBA1-3	chr9:71921770-71921972	NR_047671
10	lnc-APBA1-3	chr9:71921064-71921206	XLOC_007724
11	lnc-APBA1-2	chr9:72009222-72010989	XLOC_007725
12	lnc-APBA1-5	chr9:71962248-71962478	ucscGeneNc_uc004aho_1
13	lnc-APBA1-2	chr9:72013650-72013753	XLOC_007725
14	lnc-APBA1-6	chr9:71855143-71855736	NONHSAT131773
15	lnc-APBA1-5	chr9:71980491-71980624	ucscGeneNc_uc004aho_1
16	lnc-APBA1-5	chr9:71957870-71958977	ucscGeneNc_uc004aho_1
17	lnc-APBA1-3	chr9:71911599-71911783	XLOC_007724
18	lnc-APBA1-3	chr9:71919852-71919993	NR_047671

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	TJP2	hsa-miR-203a	chr9:71863586-71863605
2	TJP2	hsa-miR-124-3p	chr9:71869744-71869750
3	TJP2	hsa-miR-193b-3p	chr9:71869241-71869262
4	TJP2	hsa-miR-124-3p	chr9:71869732-71869751

Variant related genes	Relation type
FAM189A2	TF binding region
ENSG00000269295	TF binding region
TJP2	TF binding region
FAM189A2	CpG island
ENSG00000269295	CpG island
TJP2	CpG island
ENSG00000135063	chromatin interactions
ENSG00000141367	chromatin interactions
ENSG00000119139	chromatin interactions
ENSG00000165060	chromatin interactions
ARNTL	miRNA target sites
PTEN	miRNA target sites

Extended variants
information (count: 6668 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:6668 , 50 per page) page: 1 2 3 4 5 6 7 ... 134

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534726774	chr9:71846973-71846974	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs182532304	chr9:71846984-71846985	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116092484	chr9:71846998-71846999	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs551213554	chr9:71847008-71847009	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7020019	chr9:71847019-71847020	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs572513972	chr9:71847066-71847067	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537279068	chr9:71847097-71847098	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs575191300	chr9:71847131-71847132	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs58337094	chr9:71847149-71847150	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7031957	chr9:71847192-71847193	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs187705756	chr9:71847215-71847216	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150851388	chr9:71847221-71847222	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62570180	chr9:71847229-71847230	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545735228	chr9:71847243-71847244	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75968483	chr9:71847253-71847254	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574968775	chr9:71847254-71847255	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201669090	chr9:71847293-71847294	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10126040	chr9:71847302-71847303	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563668216	chr9:71847310-71847311	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs60493557	chr9:71847319-71847320	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117749729	chr9:71847330-71847331	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs60757818	chr9:71847332-71847333	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528653383	chr9:71847401-71847402	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs547150154	chr9:71847405-71847406	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs62570182	chr9:71847425-71847426	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs62570183	chr9:71847468-71847469	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575928194	chr9:71847477-71847478	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs116285886	chr9:71847536-71847537	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs192418043	chr9:71847571-71847572	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs544457481	chr9:71847657-71847658	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs544440885	chr9:71847668-71847669	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs539362677	chr9:71847670-71847671	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs564519445	chr9:71847718-71847719	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs146557161	chr9:71847741-71847742	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs368519205	chr9:71847754-71847755	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs74520741	chr9:71847779-71847780	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs182968669	chr9:71847799-71847800	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs188724393	chr9:71847802-71847803	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575032090	chr9:71847815-71847816	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72709083	chr9:71847823-71847824	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142396088	chr9:71847827-71847828	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557402052	chr9:71847828-71847829	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76274198	chr9:71847934-71847935	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546500320	chr9:71848091-71848092	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28450788	chr9:71848095-71848096	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs184523482	chr9:71848115-71848116	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540680861	chr9:71848151-71848152	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189084926	chr9:71848157-71848158	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141216781	chr9:71848205-71848206	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191647677	chr9:71848264-71848265	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2714 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71828000-71866000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:71828600-71856600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:71828600-71857600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:71828600-71865600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:71828800-71851000	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:71828800-71874200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr9:71831200-71851200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:71831400-71868000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr9:71831400-71872800	Strong transcription	Liver	Liver
10	chr9:71831600-71863200	Weak transcription	Hela-S3	cervix
11	chr9:71833600-71850600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr9:71834600-71851000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr9:71834800-71856400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr9:71836400-71874000	Weak transcription	Fetal Brain Male	brain
15	chr9:71837400-71863000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:71838000-71847800	Weak transcription	Fetal Stomach	stomach
17	chr9:71838000-71861600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr9:71838600-71857600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr9:71838600-71862200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:71838800-71854800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:71839000-71857400	Strong transcription	HepG2	liver
22	chr9:71839000-71872600	Strong transcription	Fetal Intestine Large	intestine
23	chr9:71839600-71863400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:71839800-71856600	Strong transcription	HMEC	breast
25	chr9:71839800-71857600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:71839800-71857800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr9:71839800-71858000	Strong transcription	Adipose Nuclei	Adipose
28	chr9:71840000-71857400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:71840200-71847400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:71840200-71847400	Strong transcription	Pancreas	Pancrea
31	chr9:71840200-71849200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr9:71840200-71855800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr9:71840200-71855800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:71840200-71856000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:71840200-71856400	Strong transcription	HUVEC	blood vessel
36	chr9:71840200-71857400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:71840200-71858200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr9:71840200-71858600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr9:71840200-71870400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:71840600-71847000	Strong transcription	Osteobl	bone
41	chr9:71841000-71858000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr9:71841400-71869800	Weak transcription	Colon Smooth Muscle	Colon
43	chr9:71841400-71869800	Weak transcription	K562	blood
44	chr9:71841800-71847400	Strong transcription	Ovary	ovary
45	chr9:71842000-71847200	Strong transcription	Lung	lung
46	chr9:71842800-71847000	Strong transcription	Small Intestine	intestine
47	chr9:71843000-71862400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:71843400-71847200	Weak transcription	Brain Angular Gyrus	brain
49	chr9:71843400-71850800	Weak transcription	Fetal Kidney	kidney
50	chr9:71843400-71851000	Weak transcription	Right Ventricle	heart

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