Variant report

Variant	esv3406081
Chromosome Location	chr12:120906094-120908942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:894)
CpG islands
(count:733)
Chromatin interactive
region (count:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:894 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:120907484-120907678	K562	blood:	n/a	n/a
2	ARID3A	chr12:120906211-120906532	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:120907418-120907721	HepG2	liver:	n/a	n/a
4	ATF2	chr12:120907628-120908190	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr12:120907304-120907738	K562	blood:	n/a	n/a
6	ATF3	chr12:120907381-120907873	A549	lung:	n/a	n/a
7	ATF3	chr12:120907392-120907928	A549	lung:	n/a	n/a
8	BACH1	chr12:120907110-120907883	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr12:120906545-120906741	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr12:120907056-120907832	A549	lung:	n/a	chr12:120907478-120907491
11	BCL3	chr12:120906055-120906473	A549	lung:	n/a	n/a
12	BCLAF1	chr12:120907265-120907758	GM12878	blood:	n/a	chr12:120907478-120907491
13	BHLHE40	chr12:120906746-120906878	K562	blood:	n/a	n/a
14	BHLHE40	chr12:120905974-120906616	GM12878	blood:	n/a	n/a
15	BHLHE40	chr12:120906361-120906439	K562	blood:	n/a	n/a
16	BHLHE40	chr12:120907331-120907762	HepG2	liver:	n/a	n/a
17	BHLHE40	chr12:120907148-120908211	K562	blood:	n/a	chr12:120907873-120907889 chr12:120907865-120907881
18	BHLHE40	chr12:120906924-120908008	GM12878	blood:	n/a	chr12:120906935-120906951 chr12:120907873-120907889 chr12:120907865-120907881
19	BRCA1	chr12:120907453-120907718	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr12:120907594-120907822	HepG2	liver:	n/a	n/a
21	BRCA1	chr12:120907592-120908031	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr12:120907588-120907789	GM12878	blood:	n/a	n/a
23	CBX3	chr12:120906092-120906634	K562	blood:	n/a	n/a
24	CBX3	chr12:120907365-120908555	K562	blood:	n/a	n/a
25	CCNT2	chr12:120906309-120908074	K562	blood:	n/a	n/a
26	CEBPB	chr12:120906401-120906557	HepG2	liver:	n/a	chr12:120906533-120906544 chr12:120906533-120906544
27	CEBPB	chr12:120906522-120906612	K562	blood:	n/a	chr12:120906533-120906544 chr12:120906533-120906544
28	CEBPB	chr12:120907463-120907728	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr12:120907748-120907756	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPD	chr12:120907247-120907780	HepG2	liver:	n/a	n/a
31	CHD1	chr12:120907567-120907645	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr12:120906868-120907741	GM12878	blood:	n/a	n/a
33	CHD2	chr12:120906704-120907986	K562	blood:	n/a	chr12:120906720-120906730
34	CHD2	chr12:120906905-120907777	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr12:120907070-120907720	HepG2	liver:	n/a	n/a
36	CHD2	chr12:120906720-120907887	GM12878	blood:	n/a	chr12:120906720-120906730
37	CHD2	chr12:120906226-120906480	HepG2	liver:	n/a	n/a
38	CHD2	chr12:120906906-120907957	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr12:120907115-120907851	A549	lung:	n/a	n/a
40	CREB1	chr12:120907386-120907695	A549	lung:	n/a	n/a
41	CREB1	chr12:120906614-120908317	HepG2	liver:	n/a	n/a
42	CREB1	chr12:120907144-120908004	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTBP2	chr12:120906841-120908039	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr12:120907486-120907733	SK-N-SH_RA	brain:	n/a	chr12:120907622-120907632 chr12:120907625-120907634 chr12:120907621-120907634 chr12:120907620-120907636 chr12:120907619-120907637
45	CTCF	chr12:120907500-120907802	Kidney_OC	kidney:	n/a	chr12:120907622-120907632 chr12:120907625-120907634 chr12:120907621-120907634 chr12:120907620-120907636 chr12:120907619-120907637
46	CTCF	chr12:120906380-120906530	BJ	skin:	n/a	n/a
47	CTCF	chr12:120906940-120907090	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr12:120907472-120907815	GM12891	blood:	n/a	chr12:120907622-120907632 chr12:120907625-120907634 chr12:120907621-120907634 chr12:120907620-120907636 chr12:120907619-120907637
49	CTCF	chr12:120907540-120907690	GM12866	blood:	n/a	chr12:120907622-120907632 chr12:120907625-120907634 chr12:120907621-120907634 chr12:120907620-120907636 chr12:120907619-120907637
50	CTCF	chr12:120906380-120906530	HCPEpiC	choroid plexus:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120907854-120907904	NT2-D1	testis:	n/a
2	chr12:120907854-120907904	NT2-D1	testis:	n/a
3	chr12:120907301-120907351	AoSMC	blood vessel:	n/a
4	chr12:120907854-120907904	LNCaP	prostate:	n/a
5	chr12:120906938-120906988	AG09319	gingival:	n/a
6	chr12:120906658-120906708	HNPCEpiC	eye:	n/a
7	chr12:120906658-120906708	PrEC	prostate:	n/a
8	chr12:120907680-120907730	HUVEC	blood vessel:	n/a
9	chr12:120906658-120906708	PFSK-1	brain:	n/a
10	chr12:120907770-120907820	CMK	blood:	n/a
11	chr12:120907604-120907654	T-47D	breast:	n/a
12	chr12:120907604-120907654	SK-N-MC	brain:	n/a
13	chr12:120907680-120907730	AoSMC	blood vessel:	n/a
14	chr12:120907701-120907751	AG09319	gingival:	n/a
15	chr12:120906953-120907003	HIPEpiC	eye:	n/a
16	chr12:120907606-120907656	SK-N-SH	brain:	n/a
17	chr12:120906938-120906988	NHBE	bronchial:	n/a
18	chr12:120906938-120906988	HEK293	kidney:	embryo
19	chr12:120907301-120907351	HL-60	blood:	n/a
20	chr12:120907680-120907730	T-47D	breast:	n/a
21	chr12:120907680-120907730	ECC-1	luminal epithelium:	n/a
22	chr12:120907604-120907654	A549	lung:	n/a
23	chr12:120906436-120906486	GM06990	blood:	n/a
24	chr12:120907604-120907654	SAEC	small airway:	n/a
25	chr12:120906938-120906988	GM19239	blood:	n/a
26	chr12:120907891-120907941	HCM	heart:	n/a
27	chr12:120907891-120907941	ECC-1	luminal epithelium:	n/a
28	chr12:120907606-120907656	NH-A	brain:	n/a
29	chr12:120907891-120907941	NT2-D1	testis:	n/a
30	chr12:120906953-120907003	Caco-2	colon:	n/a
31	chr12:120907606-120907656	NB4	blood:	n/a
32	chr12:120906953-120907003	PrEC	prostate:	n/a
33	chr12:120906436-120906486	HCM	heart:	n/a
34	chr12:120907604-120907654	NHDF-neo	bronchial:	n/a
35	chr12:120906658-120906708	HEEpiC	esophagus:	n/a
36	chr12:120906938-120906988	HUVEC	blood vessel:	n/a
37	chr12:120906938-120906988	LNCaP	prostate:	n/a
38	chr12:120907770-120907820	HRCEpiC	kidney:	n/a
39	chr12:120907680-120907730	HCM	heart:	n/a
40	chr12:120907301-120907351	GM06990	blood:	n/a
41	chr12:120907701-120907751	H1-hESC	embryonic stem cell:	embryo
42	chr12:120907891-120907941	AG04450	lung:	fetal
43	chr12:120907604-120907654	MCF-7	breast:	n/a
44	chr12:120907891-120907941	HepG2	liver:	n/a
45	chr12:120907854-120907904	HepG2	liver:	n/a
46	chr12:120907701-120907751	AoSMC	blood vessel:	n/a
47	chr12:120907301-120907351	HUVEC	blood vessel:	n/a
48	chr12:120907604-120907654	ovcar-3	ovarian:	n/a
49	chr12:120907301-120907351	U87	brain:	n/a
50	chr12:120906953-120907003	SKMC	muscle:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120882658..120886022-chr12:120906198..120909157,4	MCF-7	breast:
2	chr12:120905762..120908724-chr12:120970875..120974820,5	MCF-7	breast:
3	chr12:120727396..120732537-chr12:120902983..120911236,13	K562	blood:
4	chr12:120906483..120907115-chr15:41624018..41625002,2	Hela-S3	cervix:
5	chr12:120903724..120908002-chr12:120939821..120944385,4	MCF-7	breast:
6	chr12:120905582..120907293-chr12:121017585..121020465,2	K562	blood:
7	chr12:120905972..120909439-chr12:120965576..120970322,8	MCF-7	breast:
8	chr12:120881316..120885805-chr12:120906046..120909209,6	MCF-7	breast:
9	chr12:120906866..120907962-chr12:120933888..120934984,3	MCF-7	breast:
10	chr12:120880802..120886804-chr12:120903895..120909908,12	K562	blood:
11	chr12:120794442..120794968-chr12:120906277..120906800,2	K562	blood:
12	chr12:120905043..120908623-chr12:120970585..120973644,4	K562	blood:
13	chr12:120907008..120907963-chr19:47291529..47292300,2	NB4	blood:
14	chr12:120905836..120910535-chr12:120931936..120937198,12	MCF-7	breast:
15	chr12:120803547..120806395-chr12:120907093..120909089,2	MCF-7	breast:
16	chr12:120875890..120877701-chr12:120905742..120908323,3	MCF-7	breast:
17	chr12:120900995..120903574-chr12:120904583..120907524,5	MCF-7	breast:
18	chr12:120906126..120908752-chr12:120971938..120973464,2	MCF-7	breast:
19	chr12:120903651..120915747-chr12:120930491..120936868,24	K562	blood:
20	chr12:120907343..120910344-chr12:120965426..120968868,4	K562	blood:
21	chr12:120726465..120732980-chr12:120904767..120910057,7	MCF-7	breast:
22	chr12:120874293..120878054-chr12:120905643..120908923,7	K562	blood:
23	chr12:120879789..120885007-chr12:120906681..120910772,6	K562	blood:
24	chr1:28974862..28975684-chr12:120907235..120907893,2	Hela-S3	cervix:
25	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
26	chr12:120905412..120907184-chr12:120925601..120927838,2	K562	blood:
27	chr12:120908111..120912110-chr12:120923123..120927882,5	K562	blood:
28	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
29	chr12:120832590..120834451-chr12:120905005..120906685,2	MCF-7	breast:
30	chr12:120873907..120875736-chr12:120904532..120906530,2	MCF-7	breast:
31	chr12:120876128..120878173-chr12:120904219..120906337,2	K562	blood:
32	chr12:120877114..120878056-chr12:120907325..120908023,2	K562	blood:
33	chr12:120905819..120908222-chr12:121018300..121020103,2	MCF-7	breast:
34	chr12:120906986..120907695-chr3:93698981..93699682,2	Hela-S3	cervix:
35	chr12:120907417..120908059-chr12:120933623..120934300,2	NB4	blood:
36	chr12:120906583..120908236-chr12:120972144..120973710,2	K562	blood:
37	chr12:120728388..120731475-chr12:120905367..120907269,3	K562	blood:
38	chr12:120877548..120880154-chr12:120905733..120907532,2	MCF-7	breast:
39	chr12:120904864..120906819-chr12:120975505..120978250,2	K562	blood:
40	chr12:120905117..120912400-chr12:120930505..120935641,13	K562	blood:
41	chr12:120905660..120907924-chr12:120965439..120968401,2	MCF-7	breast:

No data

Variant related genes	Relation type
SRSF9	TF binding region
DYNLL1	TF binding region
SRSF9	CpG island
DYNLL1	CpG island
ENSG00000248008	chromatin interactions
ENSG00000137804	chromatin interactions
ENSG00000111786	chromatin interactions
ENSG00000110871	chromatin interactions
ENSG00000167272	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000111775	chromatin interactions
ENSG00000135097	chromatin interactions
ENSG00000169379	chromatin interactions
ENSG00000022840	chromatin interactions
ENSG00000222601	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000088986	chromatin interactions
ENSG00000104147	chromatin interactions
ENSG00000105281	chromatin interactions
ENSG00000257218	chromatin interactions
ENSG00000170855	chromatin interactions
ENSG00000111780	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149118726	chr12:120906136-120906137	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs559483774	chr12:120906182-120906183	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs541754014	chr12:120906187-120906188	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs572922985	chr12:120906230-120906231	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs542023200	chr12:120906244-120906245	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs185613198	chr12:120906284-120906285	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs544546745	chr12:120906337-120906338	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs34815312	chr12:120906362-120906363	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs563776670	chr12:120906383-120906384	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs532648210	chr12:120906387-120906388	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs76108673	chr12:120906423-120906424	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs190472286	chr12:120906520-120906521	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs534874709	chr12:120906611-120906612	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs142217535	chr12:120906619-120906620	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs374385949	chr12:120906627-120906628	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs372433712	chr12:120906634-120906635	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs537590754	chr12:120906646-120906647	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs76816053	chr12:120906653-120906654	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs574058144	chr12:120906660-120906661	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs539723589	chr12:120906671-120906672	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs552958054	chr12:120906731-120906732	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs573101716	chr12:120906759-120906760	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs541611998	chr12:120906793-120906794	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs536391511	chr12:120906797-120906798	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs181606653	chr12:120906822-120906823	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs574983765	chr12:120906893-120906894	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs543934112	chr12:120906894-120906895	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs563713755	chr12:120906909-120906910	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs2673623	chr12:120906910-120906911	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs186071556	chr12:120906912-120906913	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs559757530	chr12:120907002-120907003	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs528787224	chr12:120907065-120907066	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
33	rs548496440	chr12:120907122-120907123	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs61945873	chr12:120907147-120907148	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs531011638	chr12:120907149-120907150	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs140319695	chr12:120907150-120907151	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs570973369	chr12:120907152-120907153	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs539409145	chr12:120907191-120907192	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs564485413	chr12:120907192-120907193	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs553333456	chr12:120907196-120907197	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs200028358	chr12:120907198-120907199	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs372524955	chr12:120907202-120907203	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs535779554	chr12:120907203-120907204	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs202245238	chr12:120907210-120907211	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs550140977	chr12:120907214-120907215	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs201916568	chr12:120907266-120907267	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
47	rs11548262	chr12:120907271-120907272	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544020922	chr12:120907272-120907273	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs140548362	chr12:120907281-120907282	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs200749502	chr12:120907305-120907306	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Autism	22495311	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
Urothelial carcinoma	21177765	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
Breast cancer	22522925	CNVD

Chromatin state (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120903600-120906200	Weak transcription	Small Intestine	intestine
2	chr12:120904600-120906600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr12:120905200-120906200	Weak transcription	Aorta	Aorta
4	chr12:120905400-120906400	Transcr. at gene 5' and 3'	K562	blood
5	chr12:120905600-120906200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:120905600-120906200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:120905600-120906200	Enhancers	Colonic Mucosa	Colon
8	chr12:120905600-120906200	Enhancers	Fetal Brain Male	brain
9	chr12:120905600-120906200	Active TSS	Gastric	stomach
10	chr12:120905600-120906200	Enhancers	Spleen	Spleen
11	chr12:120905600-120906400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
12	chr12:120905600-120906400	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr12:120905600-120906800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr12:120905600-120908400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr12:120905600-120908600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:120905800-120906200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:120905800-120906200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:120905800-120906200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:120905800-120906200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:120905800-120906200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:120905800-120906200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr12:120905800-120906200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr12:120905800-120906200	Flanking Active TSS	Fetal Intestine Large	intestine
24	chr12:120905800-120906200	Weak transcription	Lung	lung
25	chr12:120905800-120906200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:120905800-120906200	Flanking Active TSS	HSMM	muscle
27	chr12:120905800-120906400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:120905800-120906400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr12:120905800-120906400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr12:120905800-120906400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:120905800-120906400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
32	chr12:120905800-120906400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:120905800-120906400	Flanking Active TSS	Fetal Stomach	stomach
34	chr12:120905800-120906400	Flanking Active TSS	Thymus	Thymus
35	chr12:120905800-120906400	Flanking Active TSS	Hela-S3	cervix
36	chr12:120905800-120906400	Flanking Active TSS	HUVEC	blood vessel
37	chr12:120905800-120906400	Flanking Active TSS	NH-A	brain
38	chr12:120905800-120906400	Flanking Active TSS	Osteobl	bone
39	chr12:120905800-120906600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr12:120905800-120906600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:120905800-120906600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr12:120905800-120906600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:120905800-120906600	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr12:120905800-120906600	Flanking Active TSS	Fetal Brain Female	brain
45	chr12:120905800-120906600	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr12:120905800-120906600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr12:120905800-120906800	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr12:120905800-120906800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:120905800-120907000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:120905800-120907800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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