Variant report

Variant	nsv541622
Chromosome Location	chr12:123757305-124087671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9535)
CpG islands
(count:7638)
Chromatin interactive
region (count:561)
LncRNA
region (count:31)
Mature miRNA
region (count: 2)
miRNA target
sites (count:11)

(count:9535 , 50 per page) page: 1 2 3 4 5 6 7 ... 191

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:124066719-124067024	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:123933034-123933511	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:123930562-123930871	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:123777776-123778317	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:123857403-123857446	K562	blood:	n/a	n/a
6	ARID3A	chr12:124055016-124055130	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:124086179-124086778	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:123849240-123849379	HepG2	liver:	n/a	n/a
9	ARID3A	chr12:124086169-124086751	K562	blood:	n/a	n/a
10	ARID3A	chr12:123868068-123868703	HepG2	liver:	n/a	n/a
11	ARID3A	chr12:123942421-123942897	K562	blood:	n/a	n/a
12	ARID3A	chr12:124017367-124017624	K562	blood:	n/a	n/a
13	ARID3A	chr12:123942478-123942944	HepG2	liver:	n/a	n/a
14	ARID3A	chr12:124066707-124067005	K562	blood:	n/a	n/a
15	ARID3A	chr12:123933737-123934269	HepG2	liver:	n/a	n/a
16	ARID3A	chr12:123928815-123929330	HepG2	liver:	n/a	n/a
17	ARID3A	chr12:124080339-124081019	HepG2	liver:	n/a	n/a
18	ARID3A	chr12:123868155-123868705	K562	blood:	n/a	n/a
19	ARID3A	chr12:123850091-123850557	K562	blood:	n/a	n/a
20	ARID3A	chr12:123869109-123869429	HepG2	liver:	n/a	n/a
21	ARID3A	chr12:124003707-124004059	HepG2	liver:	n/a	n/a
22	ARID3A	chr12:124018494-124018555	K562	blood:	n/a	n/a
23	ARID3A	chr12:123859161-123859380	K562	blood:	n/a	n/a
24	ARID3A	chr12:123872141-123873037	K562	blood:	n/a	n/a
25	ARID3A	chr12:123838109-123838129	K562	blood:	n/a	n/a
26	ARID3A	chr12:123848203-123848394	HepG2	liver:	n/a	n/a
27	ARID3A	chr12:124068840-124069198	HepG2	liver:	n/a	n/a
28	ARID3A	chr12:123849586-123850564	HepG2	liver:	n/a	n/a
29	ARID3A	chr12:124055889-124056158	HepG2	liver:	n/a	n/a
30	ATF1	chr12:124086461-124086850	K562	blood:	n/a	n/a
31	ATF1	chr12:123858660-123858743	K562	blood:	n/a	n/a
32	ATF1	chr12:124068826-124069223	K562	blood:	n/a	n/a
33	ATF1	chr12:123868169-123868701	K562	blood:	n/a	n/a
34	ATF1	chr12:123939137-123939179	K562	blood:	n/a	n/a
35	ATF1	chr12:123859107-123859494	K562	blood:	n/a	n/a
36	ATF1	chr12:123872000-123873150	K562	blood:	n/a	n/a
37	ATF1	chr12:123870215-123870528	K562	blood:	n/a	n/a
38	ATF2	chr12:123762651-123763327	GM12878	blood:	n/a	n/a
39	ATF2	chr12:123849458-123850671	GM12878	blood:	n/a	n/a
40	ATF2	chr12:124086364-124086783	H1-hESC	embryonic stem cell:	n/a	n/a
41	ATF2	chr12:123911497-123912306	GM12878	blood:	n/a	n/a
42	ATF2	chr12:124068634-124069051	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF2	chr12:123920737-123921522	GM12878	blood:	n/a	n/a
44	ATF2	chr12:123926019-123926706	GM12878	blood:	n/a	n/a
45	ATF2	chr12:124086369-124086785	GM12878	blood:	n/a	n/a
46	ATF2	chr12:123762667-123763346	GM12878	blood:	n/a	n/a
47	ATF2	chr12:123912339-123912781	GM12878	blood:	n/a	n/a
48	ATF2	chr12:123915598-123916170	GM12878	blood:	n/a	n/a
49	ATF2	chr12:124068644-124069075	GM12878	blood:	n/a	n/a
50	ATF2	chr12:123872859-123873307	GM12878	blood:	n/a	n/a

(count:7638 , 50 per page) page: 1 2 3 4 5 6 7 ... 153

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123852477-123852527	HL-60	blood:	n/a
2	chr12:124086193-124086243	LNCaP	prostate:	n/a
3	chr12:124086903-124086953	HRPEpiC	eye:	n/a
4	chr12:124068866-124068916	PrEC	prostate:	n/a
5	chr12:123921479-123921529	HRPEpiC	eye:	n/a
6	chr12:123847070-123847120	MCF-7	breast:	n/a
7	chr12:123892621-123892671	GM12891	blood:	n/a
8	chr12:123868625-123868675	HCF	heart:	n/a
9	chr12:124086667-124086717	AG10803	skin:	n/a
10	chr12:123868665-123868715	MCF10A-Er-Src	breast:	n/a
11	chr12:124018492-124018542	HAEpiC	amniotic membrane:	n/a
12	chr12:124068984-124069034	HCM	heart:	n/a
13	chr12:124082333-124082383	SK-N-MC	brain:	n/a
14	chr12:123852477-123852527	HL-60	blood:	n/a
15	chr12:124086193-124086243	LNCaP	prostate:	n/a
16	chr12:124086903-124086953	HRPEpiC	eye:	n/a
17	chr12:124068866-124068916	PrEC	prostate:	n/a
18	chr12:123921479-123921529	HRPEpiC	eye:	n/a
19	chr12:123847070-123847120	MCF-7	breast:	n/a
20	chr12:123892621-123892671	GM12891	blood:	n/a
21	chr12:123868625-123868675	HCF	heart:	n/a
22	chr12:124086667-124086717	AG10803	skin:	n/a
23	chr12:123868665-123868715	MCF10A-Er-Src	breast:	n/a
24	chr12:124018492-124018542	HAEpiC	amniotic membrane:	n/a
25	chr12:124068984-124069034	HCM	heart:	n/a
26	chr12:124082333-124082383	SK-N-MC	brain:	n/a
27	chr12:123856688-123856738	GM12891	blood:	n/a
28	chr12:123757413-123757463	H1-hESC	embryonic stem cell:	embryo
29	chr12:123921688-123921738	BJ	skin:	n/a
30	chr12:124043090-124043140	AG04449	skin:	fetal
31	chr12:123950415-123950465	ProgFib	skin:	n/a
32	chr12:123848618-123848668	BJ	skin:	n/a
33	chr12:124019284-124019334	SAEC	small airway:	n/a
34	chr12:123945990-123946040	AG10803	skin:	n/a
35	chr12:123957029-123957079	HAEpiC	amniotic membrane:	n/a
36	chr12:124086727-124086777	AG04449	skin:	fetal
37	chr12:123950649-123950699	GM12892	blood:	n/a
38	chr12:123941735-123941785	HRE	kidney:	n/a
39	chr12:123804559-123804609	HL-60	blood:	n/a
40	chr12:124086660-124086710	SAEC	small airway:	n/a
41	chr12:124016861-124016911	HL-60	blood:	n/a
42	chr12:123942416-123942466	HRPEpiC	eye:	n/a
43	chr12:124014409-124014459	RPTEC	kidney:	n/a
44	chr12:124066860-124066910	HRCEpiC	kidney:	n/a
45	chr12:124017613-124017663	HCF	heart:	n/a
46	chr12:123921306-123921356	A549	lung:	n/a
47	chr12:124086301-124086351	Hepatocyte	liver:	n/a
48	chr12:123869060-123869110	RPTEC	kidney:	n/a
49	chr12:123856886-123856936	HL-60	blood:	n/a
50	chr12:123950900-123950950	MCF10A-Er-Src	breast:	n/a

(count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Distal block	Cell Line	Cell type
1	chr12:123982775..123984633-chr12:124027531..124030099,2	MCF-7	breast:
2	chr12:123936540..123939308-chr12:123941590..123944432,3	MCF-7	breast:
3	chr12:124014613..124020427-chr12:124021757..124030921,10	MCF-7	breast:
4	chr12:123798336..123800594-chr12:123811189..123813039,2	MCF-7	breast:
5	chr12:123919998..123924322-chr12:123941781..123944675,4	K562	blood:
6	chr12:123882533..123885309-chr12:123899138..123901801,2	MCF-7	breast:
7	chr1:247494766..247495584-chr12:123849315..123850422,3	Hela-S3	cervix:
8	chr12:124018224..124020563-chr12:124065688..124070487,5	K562	blood:
9	chr12:123755326..123757299-chr12:124079928..124082713,2	MCF-7	breast:
10	chr12:123846822..123850749-chr12:123856444..123859181,3	MCF-7	breast:
11	chr12:124080644..124082674-chr12:124097166..124099326,2	K562	blood:
12	chr12:124063601..124065298-chr12:124067381..124068906,2	MCF-7	breast:
13	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
14	chr12:124018073..124019067-chr12:124066380..124067358,3	MCF-7	breast:
15	chr12:124060536..124063312-chr12:124065781..124067834,2	K562	blood:
16	chr12:123754797..123757159-chr12:123801683..123804517,3	MCF-7	breast:
17	chr12:123928730..123932409-chr12:123939432..123944416,8	MCF-7	breast:
18	chr12:123900528..123903276-chr12:123907055..123908571,2	K562	blood:
19	chr12:123867374..123868909-chr12:124067489..124069464,2	K562	blood:
20	chr12:123941098..123944051-chr12:124068238..124070527,2	K562	blood:
21	chr12:123988703..123991026-chr12:123998047..123999844,2	MCF-7	breast:
22	chr12:123873193..123874940-chr12:123942406..123944140,2	K562	blood:
23	chr12:123873866..123876385-chr12:123942538..123944226,2	MCF-7	breast:
24	chr12:123862454..123865045-chr12:123865570..123867094,2	K562	blood:
25	chr12:124076682..124078685-chr12:124084617..124086740,3	MCF-7	breast:
26	chr12:123990733..123992754-chr12:123992876..123995822,2	MCF-7	breast:
27	chr12:123971133..123973721-chr12:123974833..123977007,2	K562	blood:
28	chr12:123808230..123810207-chr12:123820394..123822529,2	K562	blood:
29	chr12:123819626..123821954-chr12:123832677..123835923,3	K562	blood:
30	chr12:123872765..123874584-chr2:91935567..91938569,3	MCF-7	breast:
31	chr12:123987186..123989370-chr12:124003960..124006021,2	K562	blood:
32	chr12:123982775..123984633-chr12:124027531..124030099,2	MCF-7	breast:
33	chr12:123883208..123885553-chr12:123941974..123944091,2	MCF-7	breast:
34	chr12:124018963..124020649-chr12:124025084..124027162,2	MCF-7	breast:
35	chr12:123971133..123973721-chr12:123974833..123977007,2	K562	blood:
36	chr12:123957896..123960389-chr12:123963228..123966813,3	K562	blood:
37	chr12:123849466..123851432-chr12:123945194..123947485,2	MCF-7	breast:
38	chr12:123990733..123992754-chr12:123992876..123995822,2	MCF-7	breast:
39	chr12:123871220..123876084-chr12:123892723..123900288,8	K562	blood:
40	chr12:123868262..123871053-chr17:58155484..58156988,2	MCF-7	breast:
41	chr12:124066647..124068350-chr12:124118155..124119898,2	K562	blood:
42	chr12:123982403..123985718-chr12:123986410..123989234,3	MCF-7	breast:
43	chr12:123920837..123922890-chr12:124067881..124069805,2	K562	blood:
44	chr12:123862454..123865045-chr12:123865570..123867094,2	K562	blood:
45	chr12:123876515..123878162-chr12:123919319..123921782,2	MCF-7	breast:
46	chr12:123754432..123757846-chr12:123839147..123840941,3	MCF-7	breast:
47	chr12:123873494..123875550-chr12:124015653..124017169,2	MCF-7	breast:
48	chr12:123965117..123967969-chr12:123974414..123976092,3	K562	blood:
49	chr12:123945506..123947749-chr12:123948281..123950619,2	K562	blood:
50	chr12:123872778..123876196-chr12:124065295..124071344,6	MCF-7	breast:

(count:31 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SETD8-1	chr12:123848356-123848554	NONHSAT031583
2	lnc-SNRNP35-1	chr12:123948976-123949446	NONHSAT031593
3	lnc-SETD8-1	chr12:123848415-123850334	ENSG00000256092.2
4	lnc-SNRNP35-1	chr12:123942651-123942763	NR_104103
5	lnc-SETD8-1	chr12:123850072-123850660	ENSG00000256092
6	lnc-EIF2B1-1	chr12:124068759-124068874	NR_110049
7	lnc-EIF2B1-2	chr12:124062808-124062838	XLOC_010228
8	lnc-SETD8-1	chr12:123848415-123848554	NONHSAT031585
9	lnc-SETD8-1	chr12:123850072-123850334	NONHSAT031583
10	lnc-SNRNP35-1	chr12:123955639-123956909	NR_104103
11	lnc-SNRNP35-2	chr12:123997031-123997972	NONHSAT031595
12	lnc-EIF2B1-1	chr12:124065632-124067714	NR_110049
13	lnc-SNRNP35-2	chr12:123994929-123996488	NONHSAT031595
14	lnc-RILPL2-1	chr12:123926064-123926399	NONHSAT031590
15	lnc-DDX55-1	chr12:124080952-124081554	expReg_chr12_11962_+
16	lnc-SETD8-1	chr12:123850072-123850216	NONHSAT031586
17	lnc-SNRNP35-4	chr12:123868720-123868755	NONHSAT031588
18	lnc-SNRNP35-4	chr12:123872989-123873304	NONHSAT031588
19	lnc-EIF2B1-1	chr12:124065613-124067714	XLOC_010229
20	lnc-SBNO1-1	chr12:123773656-123774230	ENSG00000270113.1
21	lnc-SETD8-1	chr12:123849498-123849664	NONHSAT031583
22	lnc-SNRNP35-1	chr12:123942674-123942763	NONHSAT031593
23	lnc-EIF2B1-1	chr12:124066709-124068936	NONHSAT031599
24	lnc-EIF2B1-1	chr12:124068148-124068245	XLOC_010229
25	lnc-SETD8-1	chr12:123849500-123849662	ENSG00000256092
26	lnc-CDK2AP1-2	chr12:123776575-123776937	NONHSAT031579
27	lnc-SETD8-1	chr12:123849185-123849694	NONHSAT031586
28	lnc-SETD8-1	chr12:123849537-123850305	NONHSAT031585
29	lnc-EIF2B1-1	chr12:124068759-124068874	XLOC_010229
30	lnc-EIF2B1-1	chr12:124068148-124068245	NR_110049
31	lnc-EIF2B1-2	chr12:124060445-124060779	XLOC_010228

miRNA name	Chromosome Location	mirBase accession
hsa-miR-8072	chr12:123849361-123849380	MIMAT0030999
hsa-miR-3908	chr12:124020960-124020981	MIMAT0018182

(count:11 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SETD8	hsa-miR-186-5p	chr12:123892981-123892988
2	SETD8	hsa-miR-7-5p	chr12:123893689-123893711
3	SETD8	hsa-miR-127-3p	chr12:123893756-123893763
4	SETD8	hsa-miR-127-3p	chr12:123893741-123893763
5	SETD8	hsa-miR-7-5p	chr12:123892504-123892526
6	SETD8	hsa-miR-7-5p	chr12:123892787-123892793
7	SETD8	hsa-miR-7-5p	chr12:123893704-123893710
8	SETD8	hsa-miR-186-5p	chr12:123892964-123892988
9	SETD8	hsa-miR-7-5p	chr12:123892771-123892794
10	TMED2	hsa-miR-30a-5p	chr12:124081299-124081320
11	TMED2	hsa-miR-7-5p	chr12:124081277-124081289

Variant related genes	Relation type
TMED2	TF binding region
MIR3908	TF binding region
ENSG00000207189	TF binding region
ENSG00000270445	TF binding region
SETD8	TF binding region
RILPL2	TF binding region
ENSG00000270113	TF binding region
RILPL1	TF binding region
CDK2AP1	TF binding region
RNA5SP375	TF binding region
SBNO1	TF binding region
ENSG00000247373	TF binding region
ENSG00000256092	TF binding region
DDX55	TF binding region
SNRNP35	TF binding region
TMED2	CpG island
MIR3908	CpG island
ENSG00000207189	CpG island
ENSG00000270445	CpG island
SETD8	CpG island
RILPL2	CpG island
ENSG00000270113	CpG island
RILPL1	CpG island
CDK2AP1	CpG island
RNA5SP375	CpG island
SBNO1	CpG island
ENSG00000247373	CpG island
ENSG00000256092	CpG island
DDX55	CpG island
SNRNP35	CpG island
ENSG00000163125	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000206897	chromatin interactions
ENSG00000269980	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000162714	chromatin interactions
ENSG00000207189	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000039650	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000185344	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000068097	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000188026	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000273338	chromatin interactions
ENSG00000181830	chromatin interactions
ENSG00000009307	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000133639	chromatin interactions
ENSG00000162231	chromatin interactions
ENSG00000245904	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000108813	chromatin interactions
ENSG00000267100	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000179912	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000269821	chromatin interactions
ENSG00000232531	chromatin interactions
ENSG00000264229	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000189227	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000270113	chromatin interactions
ENSG00000199845	chromatin interactions
ENSG00000270445	chromatin interactions
ENSG00000235423	chromatin interactions
ENSG00000266655	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000183955	chromatin interactions
ENSG00000108264	chromatin interactions
ENSG00000074054	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000150977	chromatin interactions
ENSG00000267416	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000259673	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000121068	chromatin interactions
CD2AP	miRNA target sites
DVL2	miRNA target sites
CD44	miRNA target sites
KIF16B	miRNA target sites

Extended variants
information (count: 13319 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:13319 , 50 per page) page: 1 2 3 4 5 6 7 ... 267

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80029182	chr12:123757322-123757323	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
2	rs372378397	chr12:123757331-123757332	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs140692736	chr12:123757408-123757409	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs556994013	chr12:123757417-123757418	Enhancers Flanking Active TSS Active TSS Weak transcription	CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs145900681	chr12:123757421-123757422	Enhancers Flanking Active TSS Active TSS Weak transcription	CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs75759977	chr12:123757504-123757505	Enhancers Flanking Active TSS Active TSS Weak transcription	CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs138510751	chr12:123757531-123757532	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs573153774	chr12:123757619-123757620	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs188434305	chr12:123757695-123757696	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs181245432	chr12:123757708-123757709	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs540252524	chr12:123757733-123757734	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs186574196	chr12:123757766-123757767	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs140113353	chr12:123757776-123757777	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs561734282	chr12:123757812-123757813	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs1109559	chr12:123757861-123757862	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs1109560	chr12:123757905-123757906	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs530208533	chr12:123757971-123757972	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs114253550	chr12:123757975-123757976	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs190244927	chr12:123757989-123757990	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs560678232	chr12:123758070-123758071	Enhancers Weak transcription Flanking Active TSS	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs567589664	chr12:123758071-123758072	Enhancers Weak transcription Flanking Active TSS	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs12317395	chr12:123758072-123758073	Enhancers Weak transcription Flanking Active TSS	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs111753953	chr12:123758100-123758101	Enhancers Weak transcription Flanking Active TSS	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs137973306	chr12:123758152-123758153	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs538632733	chr12:123758195-123758196	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs7398327	chr12:123758207-123758208	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs149494144	chr12:123758223-123758224	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs7953929	chr12:123758235-123758236	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs182082833	chr12:123758262-123758263	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs555115638	chr12:123758269-123758270	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs187631492	chr12:123758277-123758278	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs10846492	chr12:123758312-123758313	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs55945002	chr12:123758358-123758359	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs10846493	chr12:123758402-123758403	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11057226	chr12:123758412-123758413	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs147437385	chr12:123758426-123758427	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs532728053	chr12:123758436-123758437	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs386767160	chr12:123758437-123758438	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs10846494	chr12:123758439-123758440	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553409127	chr12:123758471-123758472	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs548922815	chr12:123758541-123758542	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561098856	chr12:123758644-123758645	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs182174797	chr12:123758677-123758678	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs546960559	chr12:123758695-123758696	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs571553132	chr12:123758697-123758698	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs7956430	chr12:123758709-123758710	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs538265657	chr12:123758741-123758742	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs550503237	chr12:123758752-123758753	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570325624	chr12:123758801-123758802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568880083	chr12:123758820-123758821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:11746 , 50 per page) page: 1 2 3 4 5 6 7 ... 235

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123754000-123757400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr12:123754000-123757600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:123754200-123757400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:123754200-123757400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:123756600-123757400	Active TSS	Fetal Kidney	kidney
6	chr12:123756600-123757600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:123756800-123757400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:123756800-123757400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr12:123756800-123757400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:123756800-123757400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:123756800-123757400	Flanking Active TSS	Fetal Brain Male	brain
12	chr12:123756800-123757400	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr12:123756800-123757400	Flanking Active TSS	A549	lung
14	chr12:123756800-123757400	Flanking Active TSS	HSMMtube	muscle
15	chr12:123756800-123757400	Flanking Active TSS	NH-A	brain
16	chr12:123756800-123757600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:123756800-123757600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:123756800-123757600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr12:123756800-123757600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr12:123756800-123757600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr12:123756800-123758000	Enhancers	Spleen	Spleen
22	chr12:123756800-123758200	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr12:123756800-123758400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:123757000-123757400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr12:123757000-123757400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:123757000-123757400	Enhancers	Brain Angular Gyrus	brain
27	chr12:123757000-123757400	Enhancers	Fetal Heart	heart
28	chr12:123757000-123757600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:123757000-123757600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr12:123757000-123757800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:123757200-123757400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:123757200-123757400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:123757200-123757400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:123757200-123757400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:123757200-123757400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr12:123757200-123757400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr12:123757200-123757400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:123757200-123757400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr12:123757200-123757400	Enhancers	Brain Cingulate Gyrus	brain
40	chr12:123757200-123757400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:123757200-123757400	Flanking Active TSS	Fetal Brain Female	brain
42	chr12:123757200-123757400	Enhancers	HepG2	liver
43	chr12:123757200-123757400	Enhancers	HUVEC	blood vessel
44	chr12:123757200-123757600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr12:123757200-123757600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:123757200-123757600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr12:123757200-123757600	Enhancers	Primary hematopoietic stem cells	blood
48	chr12:123757200-123757600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:123757200-123757600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:123757200-123757600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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