Variant report

Variant	esv3322709
Chromosome Location	chr12:62996110-62998658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:970)
CpG islands
(count:735)
Chromatin interactive
region (count:34)
LncRNA
region (count:2)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:970 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:62997511-62997711	K562	blood:	n/a	n/a
2	ARID3A	chr12:62998431-62999027	K562	blood:	n/a	n/a
3	ARID3A	chr12:62996925-62997111	K562	blood:	n/a	n/a
4	ARID3A	chr12:62996113-62997730	HepG2	liver:	n/a	chr12:62996184-62996192
5	ATF2	chr12:62996078-62997766	GM12878	blood:	n/a	n/a
6	ATF2	chr12:62997378-62997774	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:62997788-62998549	GM12878	blood:	n/a	n/a
8	ATF2	chr12:62996040-62997217	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr12:62998030-62998652	GM12878	blood:	n/a	n/a
10	ATF2	chr12:62996103-62996914	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr12:62995869-62997935	GM12878	blood:	n/a	n/a
12	ATF3	chr12:62996372-62996732	HepG2	liver:	n/a	n/a
13	ATF3	chr12:62996448-62996682	K562	blood:	n/a	n/a
14	ATF3	chr12:62995888-62998761	A549	lung:	n/a	chr12:62997215-62997229 chr12:62997338-62997347 chr12:62997333-62997342
15	ATF3	chr12:62995967-62998025	A549	lung:	n/a	chr12:62997215-62997229 chr12:62997338-62997347 chr12:62997333-62997342
16	ATF3	chr12:62996862-62997155	K562	blood:	n/a	n/a
17	BACH1	chr12:62996034-62997224	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr12:62997105-62997135	K562	blood:	n/a	n/a
19	BACH1	chr12:62997491-62997952	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr12:62996547-62996866	GM12878	blood:	n/a	n/a
21	BATF	chr12:62996069-62996494	GM12878	blood:	n/a	n/a
22	BATF	chr12:62998216-62998515	GM12878	blood:	n/a	n/a
23	BCL11A	chr12:62996580-62996818	GM12878	blood:	n/a	n/a
24	BCL11A	chr12:62997359-62997767	GM12878	blood:	n/a	chr12:62997568-62997577 chr12:62997367-62997376
25	BCL11A	chr12:62996107-62997126	GM12878	blood:	n/a	n/a
26	BCL3	chr12:62995675-63002413	A549	lung:	n/a	chr12:62997568-62997577 chr12:62997367-62997376
27	BCL3	chr12:62996292-62997357	GM12878	blood:	n/a	n/a
28	BCL3	chr12:62996400-62996867	K562	blood:	n/a	n/a
29	BCL3	chr12:62996032-62997801	GM12878	blood:	n/a	chr12:62997568-62997577 chr12:62997367-62997376
30	BCL3	chr12:62995907-62998155	A549	lung:	n/a	chr12:62997568-62997577 chr12:62997367-62997376
31	BCLAF1	chr12:62995981-62997983	GM12878	blood:	n/a	chr12:62997568-62997577 chr12:62997367-62997376
32	BCLAF1	chr12:62995956-62998123	GM12878	blood:	n/a	chr12:62997568-62997577 chr12:62997367-62997376
33	BCLAF1	chr12:62996032-62997272	K562	blood:	n/a	n/a
34	BHLHE40	chr12:62997282-62997875	A549	lung:	n/a	n/a
35	BHLHE40	chr12:62996047-62998060	GM12878	blood:	n/a	n/a
36	BHLHE40	chr12:62996077-62997687	K562	blood:	n/a	n/a
37	BHLHE40	chr12:62996074-62997613	HepG2	liver:	n/a	n/a
38	BRCA1	chr12:62996168-62996819	H1-hESC	embryonic stem cell:	n/a	n/a
39	BRCA1	chr12:62997413-62997817	H1-hESC	embryonic stem cell:	n/a	n/a
40	BRCA1	chr12:62996201-62997285	HepG2	liver:	n/a	n/a
41	BRCA1	chr12:62998537-62998743	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr12:62995633-62998103	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr12:62996135-62996821	GM12878	blood:	n/a	n/a
44	CBX3	chr12:62995996-62996623	K562	blood:	n/a	n/a
45	CBX3	chr12:62995976-62997543	K562	blood:	n/a	n/a
46	CBX3	chr12:62996899-62997293	K562	blood:	n/a	n/a
47	CCNT2	chr12:62996068-62997846	K562	blood:	n/a	n/a
48	CEBPB	chr12:62997359-62997924	K562	blood:	n/a	chr12:62997785-62997798 chr12:62997785-62997796
49	CEBPB	chr12:62996021-62997067	GM12878	blood:	n/a	n/a
50	CEBPB	chr12:62997089-62997933	IMR90	lung:	n/a	chr12:62997785-62997798 chr12:62997785-62997796

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:62997570-62997620	MCF10A-Er-Src	breast:	n/a
2	chr12:62997412-62997462	BJ	skin:	n/a
3	chr12:62997291-62997341	SK-N-SH_RA	brain:	n/a
4	chr12:62997570-62997620	MCF10A-Er-Src	breast:	n/a
5	chr12:62997412-62997462	BJ	skin:	n/a
6	chr12:62997291-62997341	SK-N-SH_RA	brain:	n/a
7	chr12:62997103-62997153	PANC-1	pancreas:	n/a
8	chr12:62997103-62997153	SAEC	small airway:	n/a
9	chr12:62997443-62997493	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:62997291-62997341	IMR90	lung:	fetal
11	chr12:62997412-62997462	SAEC	small airway:	n/a
12	chr12:62997412-62997462	HUVEC	blood vessel:	n/a
13	chr12:62996412-62996462	AG09319	gingival:	n/a
14	chr12:62997412-62997462	ovcar-3	ovarian:	n/a
15	chr12:62996412-62996462	AG10803	skin:	n/a
16	chr12:62997129-62997179	PFSK-1	brain:	n/a
17	chr12:62997631-62997681	PANC-1	pancreas:	n/a
18	chr12:62997412-62997462	NB4	blood:	n/a
19	chr12:62997129-62997179	LNCaP	prostate:	n/a
20	chr12:62997570-62997620	HCPEpiC	choroid plexus:	n/a
21	chr12:62997443-62997493	Hela-S3	cervix:	n/a
22	chr12:62997433-62997483	HepG2	liver:	n/a
23	chr12:62997409-62997459	HRE	kidney:	n/a
24	chr12:62997103-62997153	SK-N-MC	brain:	n/a
25	chr12:62997631-62997681	BE2_C	brain:	n/a
26	chr12:62997291-62997341	BE2_C	brain:	n/a
27	chr12:62997631-62997681	SKMC	muscle:	n/a
28	chr12:62997409-62997459	HepG2	liver:	n/a
29	chr12:62997409-62997459	K562	blood:	n/a
30	chr12:62997443-62997493	NHDF-neo	bronchial:	n/a
31	chr12:62996412-62996462	HIPEpiC	eye:	n/a
32	chr12:62997409-62997459	NB4	blood:	n/a
33	chr12:62997291-62997341	PrEC	prostate:	n/a
34	chr12:62997291-62997341	AG09309	skin:	n/a
35	chr12:62997291-62997341	A549	lung:	n/a
36	chr12:62997291-62997341	SAEC	small airway:	n/a
37	chr12:62997103-62997153	HRE	kidney:	n/a
38	chr12:62997129-62997179	ovcar-3	ovarian:	n/a
39	chr12:62997409-62997459	HNPCEpiC	eye:	n/a
40	chr12:62997631-62997681	PFSK-1	brain:	n/a
41	chr12:62997409-62997459	Hepatocyte	liver:	n/a
42	chr12:62996412-62996462	HL-60	blood:	n/a
43	chr12:62997433-62997483	HCPEpiC	choroid plexus:	n/a
44	chr12:62997631-62997681	A549	lung:	n/a
45	chr12:62997443-62997493	A549	lung:	n/a
46	chr12:62997129-62997179	ProgFib	skin:	n/a
47	chr12:62997409-62997459	NHBE	bronchial:	n/a
48	chr12:62997409-62997459	SK-N-SH_RA	brain:	n/a
49	chr12:62997409-62997459	HCPEpiC	choroid plexus:	n/a
50	chr12:62997412-62997462	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:62996649..62997259-chr17:80250263..80250819,2	Hela-S3	cervix:
2	chr12:62996129..62998259-chr17:58469255..58471844,2	MCF-7	breast:
3	chr1:78469796..78470397-chr12:62996212..62997091,2	NB4	blood:
4	chr12:58335072..58337363-chr12:62995466..62997804,2	K562	blood:
5	chr12:62998104..63000296-chr12:63188312..63190467,2	K562	blood:
6	chr12:62996239..62997239-chr16:90038974..90039596,2	HCT-116	colon:
7	chr12:62858052..62860606-chr12:62997012..62999153,2	K562	blood:
8	chr12:62983638..62988242-chr12:62993831..62996165,4	K562	blood:
9	chr12:62978537..62982109-chr12:62993246..62999032,10	MCF-7	breast:
10	chr12:62978077..62985603-chr12:62994484..62999339,10	MCF-7	breast:
11	chr12:62995127..63000683-chr12:63174450..63183073,15	MCF-7	breast:
12	chr11:57508610..57509299-chr12:62996956..62997713,2	Hela-S3	cervix:
13	chr12:62996812..62998536-chr12:63327281..63329321,2	MCF-7	breast:
14	chr12:62996525..62997515-chr19:14529598..14530393,2	Hela-S3	cervix:
15	chr12:62993913..62996501-chr9:136325777..136327480,2	MCF-7	breast:
16	chr11:114271284..114272147-chr12:62995896..62996893,2	HCT-116	colon:
17	chr12:62994712..62998388-chr12:63040223..63045301,6	K562	blood:
18	chr11:3147349..3148135-chr12:62996988..62997718,2	HCT-116	colon:
19	chr12:62916495..62918610-chr12:62994074..62996393,2	MCF-7	breast:
20	chr11:68039426..68040409-chr12:62996271..62997067,2	Hela-S3	cervix:
21	chr12:62653462..62655636-chr12:62996568..62998976,2	MCF-7	breast:
22	chr12:62859264..62862504-chr12:62994446..62997723,4	K562	blood:
23	chr12:62970868..62972406-chr12:62995221..62998178,3	MCF-7	breast:
24	chr12:62996579..62998421-chr17:57969572..57972041,2	MCF-7	breast:
25	chr12:62996110..62996902-chr17:57914570..57915439,2	Hela-S3	cervix:
26	chr1:179677443..179680322-chr12:62995877..62997836,2	MCF-7	breast:
27	chr12:62995008..63000778-chr12:63178750..63184772,7	MCF-7	breast:
28	chr12:62859286..62861275-chr12:62995759..62997449,2	MCF-7	breast:
29	chr12:62995343..62997102-chr12:63326865..63328948,2	K562	blood:
30	chr12:62975484..62979404-chr12:62993353..62996237,5	K562	blood:
31	chr12:62975073..62982220-chr12:62994233..63000379,9	K562	blood:
32	chr12:62995501..62997585-chr17:56736447..56738062,2	MCF-7	breast:
33	chr12:62937527..62940044-chr12:62996050..62998265,2	MCF-7	breast:
34	chr1:1009216..1009946-chr12:62997088..62997802,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MON2-1	chr12:62996532-62996615	ENSG00000257354.1
2	lnc-MON2-2	chr12:62997216-63015942	NONHSAT029092

miRNA name	Chromosome Location	mirBase accession
hsa-let-7i-5p	chr12:62997471-62997492	MIMAT0000415
hsa-let-7i-3p	chr12:62997527-62997548	MIMAT0004585

No data

Variant related genes	Relation type
ENSG00000257354	TF binding region
MIRLET7I	TF binding region
C12orf61	TF binding region
ENSG00000257354	CpG island
MIRLET7I	CpG island
C12orf61	CpG island
ENSG00000111110	chromatin interactions
ENSG00000135655	chromatin interactions
ENSG00000160325	chromatin interactions
ENSG00000123136	chromatin interactions
ENSG00000166896	chromatin interactions
ENSG00000061987	chromatin interactions
ENSG00000223959	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000255663	chromatin interactions
ENSG00000141371	chromatin interactions
ENSG00000211450	chromatin interactions
ENSG00000238475	chromatin interactions
ENSG00000221547	chromatin interactions
ENSG00000076053	chromatin interactions
ENSG00000202034	chromatin interactions
ENSG00000171067	chromatin interactions
ENSG00000237330	chromatin interactions
ENSG00000021762	chromatin interactions
ENSG00000198673	chromatin interactions
ENSG00000265692	chromatin interactions
ENSG00000170832	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000273338	chromatin interactions
ENSG00000062716	chromatin interactions
EGLN3	Mature miRNA region
KDM5B	Mature miRNA region
IL13	Mature miRNA region
TNS3	Mature miRNA region
ARPC1A	Mature miRNA region
PIK3C2A	Mature miRNA region
SOCS1	Mature miRNA region
DDOST	Mature miRNA region
COPS8	Mature miRNA region
LPHN2	Mature miRNA region
EP400	Mature miRNA region
CDC25A	Mature miRNA region
COPS6	Mature miRNA region
GPS1	Mature miRNA region
RRM1	Mature miRNA region
TLR4	Mature miRNA region

Extended variants
information (count: 143 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149386404	chr12:62996124-62996125	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs143758733	chr12:62996147-62996148	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs557359024	chr12:62996152-62996153	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs555331077	chr12:62996169-62996170	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs117892642	chr12:62996202-62996203	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	rs148152584	chr12:62996203-62996204	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	rs141946079	chr12:62996214-62996215	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs577352699	chr12:62996249-62996250	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs116016365	chr12:62996262-62996263	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs560134698	chr12:62996296-62996297	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs539534158	chr12:62996306-62996307	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs528843561	chr12:62996311-62996312	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs543309976	chr12:62996312-62996313	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs563014570	chr12:62996317-62996318	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
15	rs377464992	chr12:62996320-62996321	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
16	rs191455699	chr12:62996322-62996323	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
17	rs552040001	chr12:62996354-62996355	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
18	rs369984723	chr12:62996357-62996358	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs571851130	chr12:62996389-62996390	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs527838209	chr12:62996390-62996391	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs547560613	chr12:62996391-62996392	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs183931724	chr12:62996403-62996404	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs553606479	chr12:62996413-62996414	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs536207297	chr12:62996430-62996431	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs73325235	chr12:62996432-62996433	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs568778294	chr12:62996445-62996446	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs537733125	chr12:62996461-62996462	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs551932595	chr12:62996474-62996475	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs557559404	chr12:62996508-62996509	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs577413449	chr12:62996511-62996512	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs540332317	chr12:62996514-62996515	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs571279660	chr12:62996546-62996547	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
33	rs553539314	chr12:62996592-62996593	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
34	rs574138955	chr12:62996602-62996603	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
35	rs374368588	chr12:62996608-62996609	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
36	rs562451281	chr12:62996623-62996624	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
37	rs532069464	chr12:62996624-62996625	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
38	rs545709766	chr12:62996632-62996633	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
39	rs565522288	chr12:62996645-62996646	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
40	rs35646256	chr12:62996647-62996648	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547874438	chr12:62996670-62996671	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
42	rs374913265	chr12:62996672-62996673	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
43	rs567628013	chr12:62996675-62996676	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
44	rs377650092	chr12:62996691-62996692	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
45	rs367578310	chr12:62996698-62996699	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
46	rs199595327	chr12:62996700-62996701	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
47	rs569693540	chr12:62996706-62996707	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
48	rs537796064	chr12:62996711-62996712	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
49	rs557589990	chr12:62996712-62996713	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
50	rs201530266	chr12:62996720-62996721	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62950600-62996200	Weak transcription	Small Intestine	intestine
2	chr12:62995200-62999600	Active TSS	Fetal Kidney	kidney
3	chr12:62995400-62998000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:62995600-62996200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:62995600-62996200	Flanking Active TSS	Dnd41	blood
6	chr12:62995600-62996200	Flanking Active TSS	HUVEC	blood vessel
7	chr12:62995600-62996200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:62995600-62996200	Flanking Active TSS	NH-A	brain
9	chr12:62995600-62996200	Flanking Active TSS	Osteobl	bone
10	chr12:62995600-62996400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:62995600-62996400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr12:62995600-62996400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:62995600-62996400	Flanking Active TSS	NHEK	skin
14	chr12:62995600-62998000	Active TSS	Colon Smooth Muscle	Colon
15	chr12:62995600-62998400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:62995600-62998600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:62995600-62999000	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr12:62995600-62999200	Active TSS	Stomach Smooth Muscle	stomach
19	chr12:62995800-62996200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr12:62995800-62996200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr12:62995800-62996200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr12:62995800-62996200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr12:62995800-62996200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr12:62995800-62996200	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr12:62995800-62996200	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr12:62995800-62996200	Active TSS	Right Atrium	heart
27	chr12:62995800-62996400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr12:62995800-62996400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:62995800-62996400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:62995800-62996400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:62995800-62996400	Flanking Active TSS	Fetal Thymus	thymus
32	chr12:62995800-62996400	Flanking Active TSS	HepG2	liver
33	chr12:62995800-62996600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr12:62995800-62996800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr12:62995800-62997600	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr12:62995800-62998200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr12:62995800-62998200	Active TSS	Brain Anterior Caudate	brain
38	chr12:62995800-62998200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:62995800-62998200	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr12:62995800-62998200	Active TSS	K562	blood
41	chr12:62995800-62998400	Active TSS	Brain Angular Gyrus	brain
42	chr12:62995800-62998600	Active TSS	Thymus	Thymus
43	chr12:62995800-62998800	Active TSS	HMEC	breast
44	chr12:62995800-62999000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:62995800-62999000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:62995800-62999200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:62995800-62999200	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr12:62995800-62999200	Active TSS	HSMM	muscle
49	chr12:62995800-62999400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:62995800-62999400	Active TSS	Fetal Stomach	stomach

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