Variant report

Variant	esv3371959
Chromosome Location	chr12:123848399-123850847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1054)
CpG islands
(count:428)
Chromatin interactive
region (count:34)
LncRNA
region (count:10)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1054 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123849586-123850564	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:123850091-123850557	K562	blood:	n/a	n/a
3	ARID3A	chr12:123849240-123849379	HepG2	liver:	n/a	n/a
4	ATF2	chr12:123849410-123850683	GM12878	blood:	n/a	n/a
5	ATF2	chr12:123849617-123850501	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr12:123849458-123850671	GM12878	blood:	n/a	n/a
7	ATF3	chr12:123849656-123850574	A549	lung:	n/a	chr12:123849752-123849761 chr12:123849702-123849710
8	ATF3	chr12:123849261-123850130	GM12878	blood:	n/a	chr12:123849752-123849761 chr12:123849702-123849710 chr12:123849384-123849398
9	ATF3	chr12:123849629-123849966	K562	blood:	n/a	chr12:123849752-123849761 chr12:123849702-123849710
10	ATF3	chr12:123849287-123849552	HepG2	liver:	n/a	chr12:123849384-123849398
11	ATF3	chr12:123849382-123849568	GM12878	blood:	n/a	chr12:123849384-123849398
12	ATF3	chr12:123849241-123849613	H1-hESC	embryonic stem cell:	n/a	chr12:123849384-123849398
13	ATF3	chr12:123849673-123850025	H1-hESC	embryonic stem cell:	n/a	chr12:123849752-123849761 chr12:123849702-123849710
14	ATF3	chr12:123849362-123850013	H1-hESC	embryonic stem cell:	n/a	chr12:123849752-123849761 chr12:123849702-123849710 chr12:123849384-123849398
15	ATF3	chr12:123849301-123849597	K562	blood:	n/a	chr12:123849384-123849398
16	BACH1	chr12:123848777-123848849	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr12:123849953-123850535	K562	blood:	n/a	n/a
18	BATF	chr12:123850101-123850507	GM12878	blood:	n/a	n/a
19	BATF	chr12:123849702-123850605	GM12878	blood:	n/a	n/a
20	BCL11A	chr12:123850023-123850543	GM12878	blood:	n/a	chr12:123850263-123850272
21	BCL11A	chr12:123850012-123850494	GM12878	blood:	n/a	chr12:123850263-123850272
22	BCL3	chr12:123849056-123850598	A549	lung:	n/a	chr12:123850263-123850272 chr12:123849273-123849281 chr12:123849149-123849162
23	BCL3	chr12:123847789-123848848	A549	lung:	n/a	chr12:123848680-123848693
24	BCL3	chr12:123849967-123850494	GM12878	blood:	n/a	chr12:123850263-123850272
25	BCLAF1	chr12:123849501-123850592	GM12878	blood:	n/a	chr12:123850263-123850272
26	BCLAF1	chr12:123849494-123850619	GM12878	blood:	n/a	chr12:123850263-123850272
27	BHLHE40	chr12:123848507-123848833	HepG2	liver:	n/a	n/a
28	BHLHE40	chr12:123849138-123850573	K562	blood:	n/a	chr12:123849746-123849767 chr12:123849751-123849760 chr12:123849752-123849761 chr12:123849753-123849762 chr12:123849750-123849763 chr12:123849752-123849761
29	BHLHE40	chr12:123848048-123848914	K562	blood:	n/a	n/a
30	BHLHE40	chr12:123849162-123850549	HepG2	liver:	n/a	chr12:123849746-123849767 chr12:123849751-123849760 chr12:123849752-123849761 chr12:123849753-123849762 chr12:123849750-123849763 chr12:123849752-123849761
31	BHLHE40	chr12:123848026-123850593	GM12878	blood:	n/a	chr12:123849746-123849767 chr12:123849751-123849760 chr12:123849752-123849761 chr12:123849753-123849762 chr12:123849750-123849763 chr12:123849752-123849761
32	BHLHE40	chr12:123849301-123850496	A549	lung:	n/a	chr12:123849746-123849767 chr12:123849751-123849760 chr12:123849752-123849761 chr12:123849753-123849762 chr12:123849750-123849763 chr12:123849752-123849761
33	BRCA1	chr12:123849498-123850020	HepG2	liver:	n/a	n/a
34	BRCA1	chr12:123849600-123850486	GM12878	blood:	n/a	n/a
35	BRCA1	chr12:123849597-123850530	H1-hESC	embryonic stem cell:	n/a	n/a
36	BRCA1	chr12:123849301-123850534	Hela-S3	cervix:	n/a	n/a
37	CBX3	chr12:123849141-123850646	K562	blood:	n/a	n/a
38	CBX3	chr12:123847879-123848825	K562	blood:	n/a	n/a
39	CCNT2	chr12:123848629-123850290	K562	blood:	n/a	chr12:123849719-123849728 chr12:123849390-123849399
40	CEBPB	chr12:123849656-123850641	A549	lung:	n/a	n/a
41	CEBPB	chr12:123850211-123850563	IMR90	lung:	n/a	n/a
42	CEBPB	chr12:123850162-123850590	MCF-7	breast:	n/a	n/a
43	CEBPB	chr12:123850216-123850525	GM12878	blood:	n/a	n/a
44	CEBPB	chr12:123850255-123850532	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr12:123849681-123850629	K562	blood:	n/a	n/a
46	CEBPB	chr12:123849727-123850730	GM12878	blood:	n/a	n/a
47	CEBPB	chr12:123850093-123850573	A549	lung:	n/a	n/a
48	CEBPB	chr12:123850051-123850572	K562	blood:	n/a	n/a
49	CEBPB	chr12:123849724-123850576	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr12:123850236-123850544	HepG2	liver:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123849672-123849722	HL-60	blood:	n/a
2	chr12:123849672-123849722	HL-60	blood:	n/a
3	chr12:123850190-123850240	T-47D	breast:	n/a
4	chr12:123849672-123849722	LNCaP	prostate:	n/a
5	chr12:123848618-123848668	NHDF-neo	bronchial:	n/a
6	chr12:123849672-123849722	HMEC	breast:	n/a
7	chr12:123848917-123848967	HRPEpiC	eye:	n/a
8	chr12:123850190-123850240	GM12891	blood:	n/a
9	chr12:123850127-123850177	IMR90	lung:	fetal
10	chr12:123849313-123849363	ovcar-3	ovarian:	n/a
11	chr12:123850127-123850177	GM12892	blood:	n/a
12	chr12:123849672-123849722	Jurkat	blood:	n/a
13	chr12:123849313-123849363	CMK	blood:	n/a
14	chr12:123848618-123848668	BE2_C	brain:	n/a
15	chr12:123848917-123848967	HIPEpiC	eye:	n/a
16	chr12:123850190-123850240	HPAEpiC	pulmonary alveolar:	n/a
17	chr12:123848618-123848668	SK-N-SH	brain:	n/a
18	chr12:123849313-123849363	T-47D	breast:	n/a
19	chr12:123848618-123848668	HCM	heart:	n/a
20	chr12:123849313-123849363	HepG2	liver:	n/a
21	chr12:123850127-123850177	ovcar-3	ovarian:	n/a
22	chr12:123849313-123849363	GM12878	blood:	n/a
23	chr12:123848618-123848668	PANC-1	pancreas:	n/a
24	chr12:123848618-123848668	SK-N-MC	brain:	n/a
25	chr12:123850127-123850177	HUVEC	blood vessel:	n/a
26	chr12:123849901-123849951	GM12878	blood:	n/a
27	chr12:123849672-123849722	SKMC	muscle:	n/a
28	chr12:123848618-123848668	AG09319	gingival:	n/a
29	chr12:123848917-123848967	HPAEpiC	pulmonary alveolar:	n/a
30	chr12:123850127-123850177	GM12891	blood:	n/a
31	chr12:123849901-123849951	BE2_C	brain:	n/a
32	chr12:123848618-123848668	NH-A	brain:	n/a
33	chr12:123849313-123849363	NT2-D1	testis:	n/a
34	chr12:123850127-123850177	SAEC	small airway:	n/a
35	chr12:123849313-123849363	HIPEpiC	eye:	n/a
36	chr12:123849672-123849722	MCF-7	breast:	n/a
37	chr12:123849901-123849951	SK-N-SH	brain:	n/a
38	chr12:123848618-123848668	HAEpiC	amniotic membrane:	n/a
39	chr12:123848917-123848967	HL-60	blood:	n/a
40	chr12:123848917-123848967	LNCaP	prostate:	n/a
41	chr12:123849313-123849363	IMR90	lung:	fetal
42	chr12:123849672-123849722	AG04450	lung:	fetal
43	chr12:123849901-123849951	HCPEpiC	choroid plexus:	n/a
44	chr12:123849313-123849363	PrEC	prostate:	n/a
45	chr12:123850190-123850240	Hepatocyte	liver:	n/a
46	chr12:123848917-123848967	U87	brain:	n/a
47	chr12:123850127-123850177	GM19239	blood:	n/a
48	chr12:123849313-123849363	HRPEpiC	eye:	n/a
49	chr12:123850190-123850240	Caco-2	colon:	n/a
50	chr12:123850190-123850240	PANC-1	pancreas:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123846000..123850093-chr12:124067189..124070124,4	K562	blood:
2	chr12:123849548..123850497-chr15:67813305..67814144,2	Hela-S3	cervix:
3	chr12:123847204..123849398-chr12:123874460..123876425,2	K562	blood:
4	chr12:123847713..123850022-chr12:124067528..124071055,3	MCF-7	breast:
5	chr12:123756475..123758463-chr12:123849452..123851589,2	K562	blood:
6	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
7	chr11:2720861..2721484-chr12:123849198..123850137,2	HCT-116	colon:
8	chr12:123847748..123850760-chr12:123875045..123877875,5	MCF-7	breast:
9	chr12:123849812..123851534-chr12:123858422..123861381,2	MCF-7	breast:
10	chr12:123849449..123850453-chr17:73774927..73776094,3	Hela-S3	cervix:
11	chr12:92539276..92540080-chr12:123849682..123850440,2	NB4	blood:
12	chr12:123832815..123836496-chr12:123847723..123851604,4	MCF-7	breast:
13	chr11:65266221..65266767-chr12:123849629..123850352,2	HCT-116	colon:
14	chr12:123849261..123849976-chr3:49058568..49059285,2	HCT-116	colon:
15	chr1:78469769..78470335-chr12:123848922..123849686,2	Hela-S3	cervix:
16	chr12:123849568..123850490-chr9:73032999..73033831,2	Hela-S3	cervix:
17	chr12:123849675..123850516-chr2:122288105..122288668,2	NB4	blood:
18	chr12:123833002..123837136-chr12:123847313..123849620,3	MCF-7	breast:
19	chr12:123849795..123850453-chr17:79818703..79819238,2	Hela-S3	cervix:
20	chr12:123847805..123850449-chr12:124195534..124198038,2	K562	blood:
21	chr12:123846861..123850261-chr12:124066655..124071408,9	MCF-7	breast:
22	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
23	chr1:247494766..247495584-chr12:123849315..123850422,3	Hela-S3	cervix:
24	chr12:123849365..123850946-chr12:123941525..123944430,2	K562	blood:
25	chr12:123850101..123850661-chr20:30192047..30192923,2	Hela-S3	cervix:
26	chr12:123846590..123852305-chr12:123861449..123873718,39	K562	blood:
27	chr12:123848585..123850676-chr17:56707936..56709681,2	MCF-7	breast:
28	chr12:123848299..123850965-chr15:65596079..65598370,2	MCF-7	breast:
29	chr12:123845591..123852236-chr12:123866929..123875043,19	MCF-7	breast:
30	chr12:123847169..123849970-chr12:124085128..124088523,3	K562	blood:
31	chr12:123754032..123756441-chr12:123848296..123851530,6	K562	blood:
32	chr12:123846880..123851536-chr12:123865445..123870876,12	MCF-7	breast:
33	chr12:123847301..123849584-chr12:124117443..124120110,3	K562	blood:
34	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SETD8-1	chr12:123848356-123848554	NONHSAT031583
2	lnc-SETD8-1	chr12:123848415-123850334	ENSG00000256092.2
3	lnc-SETD8-1	chr12:123849498-123849664	NONHSAT031583
4	lnc-SETD8-1	chr12:123849537-123850305	NONHSAT031585
5	lnc-SETD8-1	chr12:123848415-123848554	NONHSAT031585
6	lnc-SETD8-1	chr12:123850072-123850216	NONHSAT031586
7	lnc-SETD8-1	chr12:123849500-123849662	ENSG00000256092
8	lnc-SETD8-1	chr12:123850072-123850660	ENSG00000256092
9	lnc-SETD8-1	chr12:123849185-123849694	NONHSAT031586
10	lnc-SETD8-1	chr12:123850072-123850334	NONHSAT031583

miRNA name	Chromosome Location	mirBase accession
hsa-miR-8072	chr12:123849361-123849380	MIMAT0030999

No data

Variant related genes	Relation type
SBNO1	TF binding region
ENSG00000256092	TF binding region
SBNO1	CpG island
ENSG00000256092	CpG island
ENSG00000183955	chromatin interactions
ENSG00000269821	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000189227	chromatin interactions
ENSG00000245904	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000259673	chromatin interactions
ENSG00000185344	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000273338	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000133639	chromatin interactions
ENSG00000074054	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000207189	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000264229	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000162714	chromatin interactions
KIF16B	miRNA target sites
DVL2	miRNA target sites

Extended variants
information (count: 109 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138900154	chr12:123848409-123848410	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
2	rs542048546	chr12:123848422-123848423	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
3	rs544183792	chr12:123848435-123848436	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
4	rs562799760	chr12:123848436-123848437	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
5	rs28660661	chr12:123848455-123848456	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs372173703	chr12:123848464-123848465	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
7	rs201748527	chr12:123848564-123848565	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
8	rs541794582	chr12:123848566-123848567	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
9	rs201120886	chr12:123848570-123848571	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
10	rs527407554	chr12:123848587-123848588	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
11	rs184984189	chr12:123848601-123848602	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
12	rs564350150	chr12:123848610-123848611	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
13	rs374530730	chr12:123848611-123848612	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
14	rs531742991	chr12:123848615-123848616	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
15	rs375534882	chr12:123848622-123848623	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
16	rs369519011	chr12:123848643-123848644	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
17	rs535514092	chr12:123848709-123848710	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
18	rs190416856	chr12:123848736-123848737	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
19	rs566048546	chr12:123848738-123848739	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
20	rs373136466	chr12:123848751-123848752	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
21	rs558239865	chr12:123848809-123848810	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
22	rs577157686	chr12:123848830-123848831	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
23	rs538037937	chr12:123848831-123848832	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
24	rs556219572	chr12:123848844-123848845	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
25	rs574655778	chr12:123848889-123848890	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
26	rs28397122	chr12:123848896-123848897	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs369344136	chr12:123848910-123848911	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
28	rs28697919	chr12:123848947-123848948	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
29	rs61955086	chr12:123848987-123848988	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571667212	chr12:123849030-123849031	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
31	rs545494750	chr12:123849040-123849041	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
32	rs28627651	chr12:123849051-123849052	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs193080991	chr12:123849069-123849070	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
34	rs543977805	chr12:123849070-123849071	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
35	rs562270330	chr12:123849071-123849072	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
36	rs7485502	chr12:123849096-123849097	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs28605269	chr12:123849100-123849101	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs28446728	chr12:123849103-123849104	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533364898	chr12:123849104-123849105	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
40	rs551947951	chr12:123849147-123849148	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
41	rs143057293	chr12:123849177-123849178	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
42	rs62750161	chr12:123849178-123849179	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
43	rs386378035	chr12:123849179-123849180	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
44	rs60536287	chr12:123849181-123849182	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
45	rs117135286	chr12:123849212-123849213	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
46	rs537673137	chr12:123849214-123849215	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
47	rs556347384	chr12:123849221-123849222	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
48	rs60754073	chr12:123849272-123849273	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs377765971	chr12:123849280-123849281	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
50	rs535748423	chr12:123849314-123849315	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 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
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
Breast cancer	22522925	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123847000-123848800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:123847200-123848400	Flanking Active TSS	Dnd41	blood
3	chr12:123847200-123848600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:123847200-123850600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:123847400-123848400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr12:123847400-123848400	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr12:123847400-123848400	Weak transcription	Spleen	Spleen
8	chr12:123847400-123848400	Flanking Active TSS	Hela-S3	cervix
9	chr12:123847400-123848600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr12:123847400-123848600	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr12:123847400-123848800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr12:123847400-123848800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:123847400-123849000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr12:123847400-123850400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr12:123847400-123850600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:123847400-123850600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:123847400-123850600	Active TSS	Right Ventricle	heart
18	chr12:123847400-123850800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr12:123847600-123848400	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr12:123847600-123848400	Flanking Active TSS	Fetal Thymus	thymus
21	chr12:123847600-123848400	Flanking Active TSS	Osteobl	bone
22	chr12:123847600-123848600	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr12:123847600-123848600	Flanking Active TSS	HUVEC	blood vessel
24	chr12:123847600-123848600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr12:123847600-123848800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr12:123847600-123849200	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr12:123847600-123850400	Active TSS	Aorta	Aorta
28	chr12:123847600-123850600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:123847600-123850600	Active TSS	Psoas Muscle	Psoas
30	chr12:123847600-123850600	Active TSS	NHLF	lung
31	chr12:123847800-123848400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr12:123847800-123848400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:123847800-123848400	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr12:123847800-123848400	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr12:123847800-123848400	Flanking Active TSS	Fetal Lung	lung
36	chr12:123847800-123848400	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr12:123847800-123848400	Transcr. at gene 5' and 3'	K562	blood
38	chr12:123847800-123848400	Flanking Active TSS	NH-A	brain
39	chr12:123847800-123848600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:123847800-123848600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr12:123847800-123848600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:123847800-123848600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:123847800-123848600	Flanking Active TSS	Liver	Liver
44	chr12:123847800-123848600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr12:123847800-123848800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr12:123847800-123848800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr12:123847800-123848800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr12:123847800-123850000	Active TSS	HSMM	muscle
49	chr12:123847800-123850000	Active TSS	HSMMtube	muscle
50	chr12:123847800-123850400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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