Variant report

Variant	nsv8922
Chromosome Location	chr12:12714292-12716467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:892)
CpG islands
(count:550)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:892 , 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	chr12:12714109-12714510	K562	blood:	n/a	n/a
2	ARID3A	chr12:12715585-12716186	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:12715272-12715278	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:12713874-12714485	HepG2	liver:	n/a	n/a
5	ATF1	chr12:12715415-12715753	K562	blood:	n/a	n/a
6	ATF2	chr12:12713568-12714496	GM12878	blood:	n/a	n/a
7	ATF2	chr12:12715347-12715999	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr12:12715421-12715959	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr12:12715350-12716327	GM12878	blood:	n/a	n/a
10	ATF2	chr12:12715111-12716047	GM12878	blood:	n/a	n/a
11	ATF2	chr12:12713602-12714509	GM12878	blood:	n/a	n/a
12	ATF3	chr12:12715391-12715772	K562	blood:	n/a	n/a
13	BACH1	chr12:12714580-12714743	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr12:12715606-12716184	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr12:12715408-12715912	GM12878	blood:	n/a	n/a
16	BCL11A	chr12:12715508-12715811	GM12878	blood:	n/a	n/a
17	BCLAF1	chr12:12713562-12715025	GM12878	blood:	n/a	chr12:12714772-12714785 chr12:12714841-12714854 chr12:12714732-12714745 chr12:12714735-12714748 chr12:12713831-12713840
18	BCLAF1	chr12:12713612-12714768	GM12878	blood:	n/a	chr12:12714732-12714745 chr12:12714735-12714748 chr12:12713831-12713840
19	BCLAF1	chr12:12715476-12715940	GM12878	blood:	n/a	n/a
20	BHLHE40	chr12:12715385-12715980	GM12878	blood:	n/a	n/a
21	BHLHE40	chr12:12713737-12714778	GM12878	blood:	n/a	n/a
22	BHLHE40	chr12:12714107-12714809	HepG2	liver:	n/a	n/a
23	BHLHE40	chr12:12714066-12714708	K562	blood:	n/a	n/a
24	BHLHE40	chr12:12715737-12715804	K562	blood:	n/a	n/a
25	BRCA1	chr12:12713877-12714319	HepG2	liver:	n/a	n/a
26	BRCA1	chr12:12715711-12716066	HepG2	liver:	n/a	n/a
27	BRCA1	chr12:12715996-12716152	GM12878	blood:	n/a	n/a
28	BRCA1	chr12:12715528-12715891	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr12:12715579-12715615	H1-hESC	embryonic stem cell:	n/a	n/a
30	CCNT2	chr12:12714548-12716043	K562	blood:	n/a	chr12:12715511-12715520 chr12:12715498-12715507 chr12:12715503-12715512 chr12:12715406-12715415
31	CEBPB	chr12:12713889-12714377	A549	lung:	n/a	chr12:12714128-12714139
32	CEBPB	chr12:12713759-12714500	HCT-116	colon:	n/a	chr12:12714128-12714139
33	CEBPB	chr12:12713800-12714848	Hela-S3	cervix:	n/a	chr12:12714128-12714139
34	CEBPB	chr12:12713952-12714822	IMR90	lung:	n/a	chr12:12714128-12714139
35	CEBPB	chr12:12715524-12715693	K562	blood:	n/a	n/a
36	CEBPB	chr12:12714514-12714707	HepG2	liver:	n/a	n/a
37	CEBPB	chr12:12713926-12714349	K562	blood:	n/a	chr12:12714128-12714139
38	CEBPB	chr12:12715471-12715715	IMR90	lung:	n/a	n/a
39	CEBPB	chr12:12713957-12714859	HepG2	liver:	n/a	chr12:12714128-12714139
40	CEBPB	chr12:12714465-12714702	ECC-1	luminal epithelium:	n/a	n/a
41	CEBPB	chr12:12713910-12714398	MCF-7	breast:	n/a	chr12:12714128-12714139
42	CEBPB	chr12:12714487-12714819	HepG2	liver:	n/a	n/a
43	CEBPB	chr12:12713748-12714801	A549	lung:	n/a	chr12:12714128-12714139
44	CEBPB	chr12:12714004-12714771	H1-hESC	embryonic stem cell:	n/a	chr12:12714128-12714139
45	CEBPB	chr12:12713452-12714491	GM12878	blood:	n/a	chr12:12714128-12714139
46	CEBPB	chr12:12715302-12715726	HepG2	liver:	n/a	n/a
47	CEBPB	chr12:12713933-12714356	ECC-1	luminal epithelium:	n/a	chr12:12714128-12714139
48	CEBPB	chr12:12713905-12714442	MCF-7	breast:	n/a	chr12:12714128-12714139
49	CEBPB	chr12:12713887-12714323	HepG2	liver:	n/a	chr12:12714128-12714139
50	CEBPB	chr12:12714411-12714813	MCF-7	breast:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:12715811-12715861	BE2_C	brain:	n/a
2	chr12:12715811-12715861	BE2_C	brain:	n/a
3	chr12:12715060-12715110	AG09309	skin:	n/a
4	chr12:12715811-12715861	GM12891	blood:	n/a
5	chr12:12715636-12715686	GM12892	blood:	n/a
6	chr12:12715438-12715488	HCT-116	colon:	n/a
7	chr12:12715558-12715608	ovcar-3	ovarian:	n/a
8	chr12:12715636-12715686	H1-hESC	embryonic stem cell:	embryo
9	chr12:12715438-12715488	AG04450	lung:	fetal
10	chr12:12715558-12715608	HEK293	kidney:	embryo
11	chr12:12714809-12714859	GM12892	blood:	n/a
12	chr12:12715438-12715488	HepG2	liver:	n/a
13	chr12:12714809-12714859	NH-A	brain:	n/a
14	chr12:12715811-12715861	AG04450	lung:	fetal
15	chr12:12715811-12715861	HL-60	blood:	n/a
16	chr12:12715628-12715678	PFSK-1	brain:	n/a
17	chr12:12715558-12715608	Hepatocyte	liver:	n/a
18	chr12:12715628-12715678	AG09319	gingival:	n/a
19	chr12:12715028-12715078	MCF10A-Er-Src	breast:	n/a
20	chr12:12715060-12715110	AG09319	gingival:	n/a
21	chr12:12715636-12715686	AoSMC	blood vessel:	n/a
22	chr12:12715060-12715110	MCF10A-Er-Src	breast:	n/a
23	chr12:12715811-12715861	K562	blood:	n/a
24	chr12:12715811-12715861	HEEpiC	esophagus:	n/a
25	chr12:12715558-12715608	IMR90	lung:	fetal
26	chr12:12715636-12715686	IMR90	lung:	fetal
27	chr12:12715628-12715678	AG04450	lung:	fetal
28	chr12:12714548-12714598	AG04450	lung:	fetal
29	chr12:12715636-12715686	HCF	heart:	n/a
30	chr12:12715028-12715078	ECC-1	luminal epithelium:	n/a
31	chr12:12715628-12715678	HepG2	liver:	n/a
32	chr12:12714548-12714598	PANC-1	pancreas:	n/a
33	chr12:12714548-12714598	Hepatocyte	liver:	n/a
34	chr12:12715636-12715686	AG10803	skin:	n/a
35	chr12:12715060-12715110	HIPEpiC	eye:	n/a
36	chr12:12715558-12715608	Jurkat	blood:	n/a
37	chr12:12715636-12715686	Hela-S3	cervix:	n/a
38	chr12:12715811-12715861	GM12878	blood:	n/a
39	chr12:12715636-12715686	NB4	blood:	n/a
40	chr12:12715438-12715488	HCPEpiC	choroid plexus:	n/a
41	chr12:12715628-12715678	GM19239	blood:	n/a
42	chr12:12715811-12715861	MCF10A-Er-Src	breast:	n/a
43	chr12:12715558-12715608	HUVEC	blood vessel:	n/a
44	chr12:12715028-12715078	SKMC	muscle:	n/a
45	chr12:12714809-12714859	IMR90	lung:	fetal
46	chr12:12715438-12715488	AG09309	skin:	n/a
47	chr12:12715811-12715861	HMEC	breast:	n/a
48	chr12:12715438-12715488	Caco-2	colon:	n/a
49	chr12:12715636-12715686	SK-N-MC	brain:	n/a
50	chr12:12714809-12714859	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:12713878..12715518-chr12:14922092..14923933,2	MCF-7	breast:
2	chr12:12714157..12716777-chr12:12764288..12766468,3	MCF-7	breast:
3	chr12:12713685..12716948-chr12:12760123..12768151,9	K562	blood:
4	chr12:12714295..12715106-chr7:4814976..4815762,2	Hela-S3	cervix:
5	chr12:12509167..12512867-chr12:12713185..12715471,5	MCF-7	breast:
6	chr12:12713534..12716816-chr12:12876902..12880504,5	K562	blood:
7	chr12:12711165..12717532-chr12:12865354..12880919,24	MCF-7	breast:
8	chr12:12712251..12716973-chr12:12867058..12873344,10	MCF-7	breast:
9	chr12:12715374..12716942-chr12:12773209..12776027,2	MCF-7	breast:
10	chr12:12418062..12421378-chr12:12712958..12715949,4	MCF-7	breast:
11	chr12:12713736..12716645-chr12:14925588..14929665,3	MCF-7	breast:
12	chr12:12672602..12674761-chr12:12714230..12715790,2	MCF-7	breast:
13	chr12:12713899..12715883-chr12:12875674..12879074,4	MCF-7	breast:
14	chr1:45769125..45769635-chr12:12714594..12715146,2	Hela-S3	cervix:
15	chr12:12657878..12659784-chr12:12714344..12718404,3	K562	blood:
16	chr12:12603843..12606415-chr12:12711459..12714793,4	MCF-7	breast:
17	chr12:12714451..12716184-chr12:12937424..12940263,2	MCF-7	breast:
18	chr12:12714508..12716169-chr12:12878232..12880566,3	K562	blood:
19	chr12:12634486..12639853-chr12:12714024..12717789,5	K562	blood:
20	chr12:12712910..12717920-chr12:12867983..12871802,5	K562	blood:
21	chr12:12710433..12719642-chr12:12755652..12767678,23	MCF-7	breast:
22	chr12:12713075..12717194-chr12:12718362..12721939,6	K562	blood:
23	chr12:12713858..12718896-chr12:12719623..12723320,7	MCF-7	breast:
24	chr12:12713891..12716367-chr3:161087265..161090021,2	MCF-7	breast:
25	chr12:12712965..12715376-chr12:12848428..12850169,2	K562	blood:
26	chr12:12601826..12603513-chr12:12715714..12717891,2	MCF-7	breast:
27	chr12:12549500..12552302-chr12:12715831..12718057,2	MCF-7	breast:
28	chr12:12507988..12510235-chr12:12714031..12716523,2	MCF-7	breast:
29	chr12:12502650..12504579-chr12:12713839..12715957,2	MCF-7	breast:
30	chr12:12715613..12717543-chr12:12816506..12818729,2	K562	blood:
31	chr12:12714662..12715442-chr17:80204303..80205173,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
DUSP16	TF binding region
DUSP16	CpG island
ENSG00000111269	chromatin interactions
ENSG00000242802	chromatin interactions
ENSG00000246705	chromatin interactions
ENSG00000165714	chromatin interactions
ENSG00000178878	chromatin interactions
ENSG00000111266	chromatin interactions
ENSG00000240424	chromatin interactions
ENSG00000070018	chromatin interactions
ENSG00000183150	chromatin interactions
ENSG00000256658	chromatin interactions
ENSG00000111276	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000111261	chromatin interactions
ENSG00000205791	chromatin interactions
ENSG00000255670	chromatin interactions
ENSG00000197837	chromatin interactions
ENSG00000141551	chromatin interactions
ENSG00000271370	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566439965	chr12:12714300-12714301	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
2	rs150457182	chr12:12714370-12714371	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
3	rs11054972	chr12:12714372-12714373	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138458359	chr12:12714380-12714381	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
5	rs573725945	chr12:12714395-12714396	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
6	rs372818571	chr12:12714403-12714404	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs141448906	chr12:12714421-12714422	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
8	rs144965501	chr12:12714453-12714454	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs189208679	chr12:12714510-12714511	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs560685779	chr12:12714556-12714557	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs527780068	chr12:12714576-12714577	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs546257721	chr12:12714587-12714588	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs111554043	chr12:12714637-12714638	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs368017356	chr12:12714646-12714647	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
15	rs564442893	chr12:12714677-12714678	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs532057320	chr12:12714687-12714688	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs539492645	chr12:12714688-12714689	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs138831298	chr12:12714707-12714708	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs112423208	chr12:12714712-12714713	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs559477441	chr12:12714743-12714744	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs562144812	chr12:12714770-12714771	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs529536577	chr12:12714793-12714794	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs547665727	chr12:12714852-12714853	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs4763844	chr12:12714937-12714938	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs533620874	chr12:12714998-12714999	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs551778146	chr12:12715025-12715026	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs570081560	chr12:12715142-12715143	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs537759488	chr12:12715155-12715156	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs556378299	chr12:12715281-12715282	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs574643496	chr12:12715282-12715283	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs144756588	chr12:12715318-12715319	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs181032042	chr12:12715327-12715328	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs546282541	chr12:12715389-12715390	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs116673343	chr12:12715409-12715410	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs202211352	chr12:12715412-12715413	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs148113792	chr12:12715414-12715415	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs543444070	chr12:12715702-12715703	Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs562452531	chr12:12715728-12715729	Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs529539989	chr12:12715798-12715799	Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs548004809	chr12:12715842-12715843	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs147926328	chr12:12715878-12715879	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs34823536	chr12:12715922-12715923	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs185693560	chr12:12715939-12715940	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs551807090	chr12:12715979-12715980	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs11054973	chr12:12715983-12715984	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537886531	chr12:12716026-12716027	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs530529655	chr12:12716046-12716047	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs549506298	chr12:12716097-12716098	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs568369743	chr12:12716155-12716156	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs535367672	chr12:12716202-12716203	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12688200-12714400	Weak transcription	Gastric	stomach
2	chr12:12706600-12714400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:12711400-12716000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
4	chr12:12711600-12716000	Active TSS	GM12878-XiMat	blood
5	chr12:12711600-12716200	Active TSS	Liver	Liver
6	chr12:12711600-12716200	Active TSS	Duodenum Mucosa	Duodenum
7	chr12:12711600-12716200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr12:12712000-12716000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr12:12712000-12716000	Active TSS	Fetal Intestine Large	intestine
10	chr12:12712000-12716200	Active TSS	Fetal Intestine Small	intestine
11	chr12:12712200-12716200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr12:12712400-12714800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr12:12712600-12716000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr12:12712600-12716000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:12712600-12716000	Active TSS	Colonic Mucosa	Colon
16	chr12:12712600-12716000	Active TSS	Fetal Brain Female	brain
17	chr12:12712600-12716000	Active TSS	Thymus	Thymus
18	chr12:12712600-12716000	Active TSS	K562	blood
19	chr12:12712600-12716200	Active TSS	NHLF	lung
20	chr12:12712800-12714600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:12712800-12716000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:12712800-12716000	Active TSS	Brain Anterior Caudate	brain
23	chr12:12712800-12716000	Active TSS	Fetal Stomach	stomach
24	chr12:12712800-12716200	Active TSS	Brain Cingulate Gyrus	brain
25	chr12:12712800-12716400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr12:12712800-12716400	Active TSS	Fetal Muscle Trunk	muscle
27	chr12:12712800-12716400	Active TSS	Right Atrium	heart
28	chr12:12712800-12716800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:12713000-12716000	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr12:12713000-12716000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:12713000-12716000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:12713000-12716000	Active TSS	Fetal Muscle Leg	muscle
33	chr12:12713000-12716000	Active TSS	Stomach Smooth Muscle	stomach
34	chr12:12713000-12716200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr12:12713000-12716200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr12:12713000-12716200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:12713200-12714600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:12713200-12716000	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr12:12713200-12716200	Active TSS	Brain Hippocampus Middle	brain
40	chr12:12713200-12716400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr12:12713200-12716600	Active TSS	Brain Angular Gyrus	brain
42	chr12:12713400-12714400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr12:12713400-12714600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr12:12713400-12714800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:12713400-12716000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:12713400-12716400	Active TSS	Aorta	Aorta
47	chr12:12713400-12716400	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr12:12713400-12716400	Active TSS	Psoas Muscle	Psoas
49	chr12:12713400-12716400	Active TSS	Right Ventricle	heart
50	chr12:12713600-12714400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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