Variant report

Variant	esv3439140
Chromosome Location	chr12:123872224-123874772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:610)
CpG islands
(count:367)
Chromatin interactive
region (count:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123872141-123873037	K562	blood:	n/a	n/a
2	ATF1	chr12:123872000-123873150	K562	blood:	n/a	n/a
3	ATF2	chr12:123872859-123873307	GM12878	blood:	n/a	n/a
4	BACH1	chr12:123872212-123873052	K562	blood:	n/a	n/a
5	BCLAF1	chr12:123872847-123873364	GM12878	blood:	n/a	n/a
6	BHLHE40	chr12:123871961-123873162	K562	blood:	n/a	n/a
7	BHLHE40	chr12:123872863-123873228	GM12878	blood:	n/a	n/a
8	BHLHE40	chr12:123873472-123873547	GM12878	blood:	n/a	n/a
9	BRCA1	chr12:123873103-123873374	GM12878	blood:	n/a	n/a
10	CBX3	chr12:123871927-123873272	K562	blood:	n/a	n/a
11	CBX3	chr12:123872436-123873022	K562	blood:	n/a	n/a
12	CCNT2	chr12:123872168-123874833	K562	blood:	n/a	n/a
13	CEBPB	chr12:123872227-123873092	K562	blood:	n/a	n/a
14	CEBPB	chr12:123873220-123873222	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr12:123872099-123873143	K562	blood:	n/a	n/a
16	CEBPD	chr12:123872026-123873173	K562	blood:	n/a	n/a
17	CEBPD	chr12:123871766-123873277	K562	blood:	n/a	n/a
18	CEBPD	chr12:123873394-123873663	HepG2	liver:	n/a	n/a
19	CHD1	chr12:123872993-123873125	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr12:123872308-123873529	K562	blood:	n/a	n/a
21	CHD2	chr12:123873190-123873649	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr12:123873357-123873383	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr12:123873155-123873536	HepG2	liver:	n/a	n/a
24	CHD2	chr12:123874352-123874413	GM12878	blood:	n/a	n/a
25	CHD2	chr12:123872906-123873570	GM12878	blood:	n/a	n/a
26	CHD2	chr12:123874289-123874302	Hela-S3	cervix:	n/a	n/a
27	CREB1	chr12:123873952-123874248	A549	lung:	n/a	n/a
28	CREB1	chr12:123873022-123873718	A549	lung:	n/a	n/a
29	CTCF	chr12:123873300-123873417	GM12892	blood:	n/a	n/a
30	CTCF	chr12:123873040-123873190	GM12875	blood:	n/a	n/a
31	CTCF	chr12:123874100-123874250	AG04449	skin:	n/a	n/a
32	CTCF	chr12:123874160-123874310	HEK293	kidney:	n/a	n/a
33	CTCF	chr12:123873309-123873430	GM19238	blood:	n/a	n/a
34	CTCF	chr12:123873195-123873788	K562	blood:	n/a	n/a
35	CTCF	chr12:123873300-123873450	GM12864	blood:	n/a	n/a
36	CTCF	chr12:123873560-123873652	GM19240	blood:	n/a	n/a
37	CTCF	chr12:123873343-123873394	GM13976	blood:	n/a	n/a
38	CTCF	chr12:123873250-123873435	HepG2	liver:	n/a	n/a
39	CTCF	chr12:123873480-123873630	HMEC	breast:	n/a	n/a
40	CTCF	chr12:123874160-123874310	HMF	breast:	n/a	n/a
41	CTCF	chr12:123872460-123872610	GM12866	blood:	n/a	n/a
42	CTCF	chr12:123873080-123873230	GM12871	blood:	n/a	n/a
43	CTCF	chr12:123873240-123873390	GM06990	blood:	n/a	n/a
44	CTCF	chr12:123873560-123873710	GM12867	blood:	n/a	n/a
45	CTCF	chr12:123874238-123874310	GM10248	blood:	n/a	n/a
46	CTCF	chr12:123873315-123873438	GM10248	blood:	n/a	n/a
47	CTCF	chr12:123873520-123873670	GM12865	blood:	n/a	n/a
48	CTCF	chr12:123874140-123874290	SAEC	small airway:	n/a	n/a
49	CTCF	chr12:123873310-123873422	MCF-7	breast:	n/a	n/a
50	CTCF	chr12:123873240-123873390	GM12864	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123874707-123874757	PFSK-1	brain:	n/a
2	chr12:123874707-123874757	PFSK-1	brain:	n/a
3	chr12:123874707-123874757	LNCaP	prostate:	n/a
4	chr12:123874707-123874757	T-47D	breast:	n/a
5	chr12:123873524-123873574	ProgFib	skin:	n/a
6	chr12:123874298-123874348	HL-60	blood:	n/a
7	chr12:123873524-123873574	HL-60	blood:	n/a
8	chr12:123874466-123874516	AG10803	skin:	n/a
9	chr12:123874298-123874348	HEK293	kidney:	embryo
10	chr12:123874298-123874348	SK-N-MC	brain:	n/a
11	chr12:123874707-123874757	ECC-1	luminal epithelium:	n/a
12	chr12:123874456-123874506	NH-A	brain:	n/a
13	chr12:123873524-123873574	HAEpiC	amniotic membrane:	n/a
14	chr12:123874707-123874757	BE2_C	brain:	n/a
15	chr12:123874456-123874506	ECC-1	luminal epithelium:	n/a
16	chr12:123874243-123874293	Hela-S3	cervix:	n/a
17	chr12:123874298-123874348	SK-N-SH	brain:	n/a
18	chr12:123874707-123874757	Jurkat	blood:	n/a
19	chr12:123874298-123874348	GM19239	blood:	n/a
20	chr12:123874466-123874516	LNCaP	prostate:	n/a
21	chr12:123874456-123874506	HUVEC	blood vessel:	n/a
22	chr12:123873524-123873574	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:123874466-123874516	MCF10A-Er-Src	breast:	n/a
24	chr12:123874456-123874506	AG09309	skin:	n/a
25	chr12:123874466-123874516	HEEpiC	esophagus:	n/a
26	chr12:123873524-123873574	SKMC	muscle:	n/a
27	chr12:123874456-123874506	HPAEpiC	pulmonary alveolar:	n/a
28	chr12:123874243-123874293	AG09319	gingival:	n/a
29	chr12:123874298-123874348	AG10803	skin:	n/a
30	chr12:123874707-123874757	HRCEpiC	kidney:	n/a
31	chr12:123874456-123874506	HMEC	breast:	n/a
32	chr12:123874466-123874516	NT2-D1	testis:	n/a
33	chr12:123874456-123874506	HNPCEpiC	eye:	n/a
34	chr12:123874243-123874293	NHBE	bronchial:	n/a
35	chr12:123874243-123874293	NT2-D1	testis:	n/a
36	chr12:123874298-123874348	A549	lung:	n/a
37	chr12:123874466-123874516	HepG2	liver:	n/a
38	chr12:123874298-123874348	K562	blood:	n/a
39	chr12:123874456-123874506	HCT-116	colon:	n/a
40	chr12:123874243-123874293	SAEC	small airway:	n/a
41	chr12:123873524-123873574	HRE	kidney:	n/a
42	chr12:123874707-123874757	HAEpiC	amniotic membrane:	n/a
43	chr12:123874298-123874348	Caco-2	colon:	n/a
44	chr12:123874456-123874506	GM12891	blood:	n/a
45	chr12:123874298-123874348	AG04450	lung:	fetal
46	chr12:123873524-123873574	BJ	skin:	n/a
47	chr12:123873524-123873574	NHDF-neo	bronchial:	n/a
48	chr12:123874298-123874348	IMR90	lung:	fetal
49	chr12:123874298-123874348	MCF10A-Er-Src	breast:	n/a
50	chr12:123874456-123874506	SK-N-SH_RA	brain:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
2	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
3	chr12:123873866..123876385-chr12:123942538..123944226,2	MCF-7	breast:
4	chr12:123845591..123852236-chr12:123866929..123875043,19	MCF-7	breast:
5	chr12:123871385..123875741-chr12:124017374..124019532,6	MCF-7	breast:
6	chr12:123871392..123873266-chr12:123879118..123880787,2	K562	blood:
7	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
8	chr12:123846590..123852305-chr12:123861449..123873718,39	K562	blood:
9	chr11:45825943..45826929-chr12:123873071..123873715,2	Hela-S3	cervix:
10	chr12:123717467..123721119-chr12:123869942..123873013,3	K562	blood:
11	chr12:123872056..123874942-chr12:124085224..124088307,3	MCF-7	breast:
12	chr12:123872784..123874602-chr17:59484787..59486930,2	MCF-7	breast:
13	chr12:123872778..123876196-chr12:124065295..124071344,6	MCF-7	breast:
14	chr12:123873719..123876506-chr12:124067448..124069174,2	K562	blood:
15	chr12:123754759..123757395-chr12:123866766..123872450,7	MCF-7	breast:
16	chr12:123874611..123876401-chr12:123967217..123969868,2	K562	blood:
17	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
18	chr12:123715746..123718967-chr12:123870796..123875270,4	K562	blood:
19	chr12:123871220..123873431-chr12:123897619..123900288,2	K562	blood:
20	chr12:123872223..123875553-chr12:124085591..124088201,3	MCF-7	breast:
21	chr12:123872765..123874584-chr2:91935567..91938569,3	MCF-7	breast:
22	chr12:123872355..123875545-chr12:123919640..123922793,3	MCF-7	breast:
23	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:
24	chr12:123870684..123873491-chr12:123941342..123943069,2	MCF-7	breast:
25	chr12:123458609..123460830-chr12:123870435..123872750,2	K562	blood:
26	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
27	chr12:123847204..123849398-chr12:123874460..123876425,2	K562	blood:
28	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
29	chr12:123873193..123874940-chr12:123942406..123944140,2	K562	blood:
30	chr12:123870366..123875219-chr12:124064500..124069174,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNRNP35-4	chr12:123872989-123873304	NONHSAT031588

No data

Variant related genes	Relation type
SETD8	TF binding region
SETD8	CpG island
ENSG00000181830	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000232531	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000150977	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000188026	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75242250	chr12:123872261-123872262	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs186142694	chr12:123872315-123872316	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs559352696	chr12:123872366-123872367	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs533063139	chr12:123872406-123872407	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs551497905	chr12:123872457-123872458	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs570296031	chr12:123872590-123872591	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs537628896	chr12:123872620-123872621	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs549281991	chr12:123872654-123872655	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs567962741	chr12:123872680-123872681	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs190928879	chr12:123872705-123872706	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs376681644	chr12:123872721-123872722	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs369100800	chr12:123872764-123872765	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs201299239	chr12:123872784-123872785	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs553333201	chr12:123872803-123872804	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs533288001	chr12:123872813-123872814	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs373267595	chr12:123872840-123872841	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs182054028	chr12:123872882-123872883	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs538785150	chr12:123872903-123872904	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs377697640	chr12:123872933-123872934	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs554756197	chr12:123872946-123872947	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs557021865	chr12:123873042-123873043	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
22	rs575862342	chr12:123873043-123873044	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
23	rs543626298	chr12:123873125-123873126	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
24	rs555239588	chr12:123873134-123873135	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
25	rs573889443	chr12:123873173-123873174	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
26	rs369997654	chr12:123873202-123873203	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
27	rs559438245	chr12:123873204-123873205	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
28	rs532948035	chr12:123873205-123873206	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
29	rs567772427	chr12:123873208-123873209	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
30	rs28533432	chr12:123873242-123873243	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs563393017	chr12:123873254-123873255	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
32	rs530488294	chr12:123873295-123873296	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
33	rs528195473	chr12:123873311-123873312	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs549562548	chr12:123873315-123873316	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs567705664	chr12:123873886-123873887	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs112525458	chr12:123874000-123874001	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs186822980	chr12:123874034-123874035	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs528826116	chr12:123874271-123874272	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs546878122	chr12:123874272-123874273	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs553628309	chr12:123874288-123874289	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs538629612	chr12:123874361-123874362	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs377314405	chr12:123874371-123874372	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs191388726	chr12:123874407-123874408	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs370931623	chr12:123874410-123874411	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs28438946	chr12:123874423-123874424	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs374749850	chr12:123874430-123874431	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs536310553	chr12:123874469-123874470	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs555542202	chr12:123874480-123874481	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs117885828	chr12:123874585-123874586	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs370023264	chr12:123874657-123874658	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 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:548 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123869600-123872400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:123869600-123872400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:123869600-123872400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:123869600-123872400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:123869600-123872400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:123869600-123872400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:123869600-123872400	Weak transcription	Brain Germinal Matrix	brain
8	chr12:123869600-123872400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:123869600-123872400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:123869600-123872400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:123869600-123872400	Enhancers	Fetal Intestine Small	intestine
12	chr12:123869600-123872600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:123869600-123872600	Weak transcription	Ovary	ovary
14	chr12:123869600-123872600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:123869600-123872600	Weak transcription	Small Intestine	intestine
16	chr12:123869600-123873000	Weak transcription	Aorta	Aorta
17	chr12:123869800-123872400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:123869800-123872400	Weak transcription	Fetal Brain Female	brain
19	chr12:123869800-123872400	Weak transcription	Fetal Kidney	kidney
20	chr12:123869800-123872400	Weak transcription	Fetal Lung	lung
21	chr12:123869800-123872400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:123869800-123872800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:123870000-123872400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:123870000-123872400	Weak transcription	Primary T cells from cord blood	blood
25	chr12:123870000-123872400	Weak transcription	Brain Anterior Caudate	brain
26	chr12:123870200-123872600	Enhancers	Duodenum Mucosa	Duodenum
27	chr12:123870200-123872600	Enhancers	Fetal Intestine Large	intestine
28	chr12:123870200-123872800	Flanking Active TSS	K562	blood
29	chr12:123871200-123872400	Enhancers	A549	lung
30	chr12:123871400-123872800	Enhancers	Psoas Muscle	Psoas
31	chr12:123871600-123872400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:123871600-123872400	Enhancers	Fetal Thymus	thymus
33	chr12:123871600-123872600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:123871800-123872400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr12:123871800-123872400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:123871800-123872400	Enhancers	Fetal Heart	heart
37	chr12:123871800-123872400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr12:123871800-123872600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:123871800-123872600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr12:123871800-123872600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr12:123871800-123872600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr12:123871800-123872600	Enhancers	Primary hematopoietic stem cells	blood
43	chr12:123871800-123872600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:123871800-123872600	Enhancers	Left Ventricle	heart
45	chr12:123871800-123872800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:123871800-123872800	Enhancers	Esophagus	oesophagus
47	chr12:123871800-123872800	Enhancers	Fetal Muscle Leg	muscle
48	chr12:123871800-123872800	Enhancers	Spleen	Spleen
49	chr12:123872000-123872400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:123872000-123872400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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