Variant report

Variant	esv3348300
Chromosome Location	chr12:83079532-83086951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:961)
CpG islands
(count:737)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:961 , 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	chr12:83079498-83079859	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:83079569-83079766	K562	blood:	n/a	n/a
3	ATF2	chr12:83079423-83079832	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr12:83080135-83080691	GM12878	blood:	n/a	n/a
5	ATF3	chr12:83079429-83079917	A549	lung:	n/a	n/a
6	BACH1	chr12:83080125-83080301	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr12:83080541-83081200	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr12:83079501-83079775	GM12878	blood:	n/a	n/a
9	BCL3	chr12:83079406-83080044	A549	lung:	n/a	n/a
10	BCLAF1	chr12:83079455-83079908	GM12878	blood:	n/a	n/a
11	BCLAF1	chr12:83080074-83080737	GM12878	blood:	n/a	n/a
12	BCLAF1	chr12:83081358-83081835	GM12878	blood:	n/a	n/a
13	BHLHE40	chr12:83080069-83081162	GM12878	blood:	n/a	chr12:83080366-83080382 chr12:83080358-83080374
14	BHLHE40	chr12:83081426-83082338	GM12878	blood:	n/a	n/a
15	BHLHE40	chr12:83079639-83079844	K562	blood:	n/a	n/a
16	BHLHE40	chr12:83079477-83079836	GM12878	blood:	n/a	n/a
17	BRCA1	chr12:83080953-83081041	HepG2	liver:	n/a	n/a
18	BRCA1	chr12:83079544-83079928	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr12:83079499-83079784	HepG2	liver:	n/a	n/a
20	BRCA1	chr12:83079484-83080605	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr12:83079572-83079786	K562	blood:	n/a	n/a
22	CBX3	chr12:83079485-83079786	K562	blood:	n/a	n/a
23	CCNT2	chr12:83080794-83081014	K562	blood:	n/a	n/a
24	CEBPB	chr12:83079599-83079910	A549	lung:	n/a	n/a
25	CEBPB	chr12:83079437-83080568	MCF-7	breast:	n/a	n/a
26	CEBPB	chr12:83079558-83079875	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr12:83080195-83080458	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr12:83080029-83080639	GM12878	blood:	n/a	n/a
29	CEBPB	chr12:83079481-83080736	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr12:83079558-83079893	HepG2	liver:	n/a	n/a
31	CHD1	chr12:83080969-83081069	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr12:83081318-83081995	GM12878	blood:	n/a	n/a
33	CHD1	chr12:83081378-83081937	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr12:83079520-83079904	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr12:83079503-83079834	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr12:83080997-83081122	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr12:83081318-83081757	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr12:83080175-83080526	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr12:83080115-83081257	GM12878	blood:	n/a	chr12:83080164-83080174 chr12:83081185-83081195
40	CHD2	chr12:83079607-83079743	HepG2	liver:	n/a	n/a
41	CHD2	chr12:83080175-83080754	Hela-S3	cervix:	n/a	n/a
42	CREB1	chr12:83081342-83081714	A549	lung:	n/a	n/a
43	CREB1	chr12:83080282-83080791	A549	lung:	n/a	n/a
44	CREB1	chr12:83079465-83079818	A549	lung:	n/a	n/a
45	CTBP2	chr12:83080192-83081685	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr12:83082080-83082230	HMEC	breast:	n/a	n/a
47	CTCF	chr12:83082100-83082250	GM12870	blood:	n/a	n/a
48	CTCF	chr12:83081360-83081510	HCM	heart:	n/a	chr12:83081477-83081490 chr12:83081474-83081492
49	CTCF	chr12:83082060-83082210	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr12:83079620-83079770	GM12878	blood:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655

(count:737 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:83080830-83080880	RPTEC	kidney:	n/a
2	chr12:83080208-83080258	HEK293	kidney:	embryo
3	chr12:83081048-83081098	CMK	blood:	n/a
4	chr12:83080208-83080258	IMR90	lung:	fetal
5	chr12:83082074-83082124	HL-60	blood:	n/a
6	chr12:83080830-83080880	RPTEC	kidney:	n/a
7	chr12:83080208-83080258	HEK293	kidney:	embryo
8	chr12:83081048-83081098	CMK	blood:	n/a
9	chr12:83080208-83080258	IMR90	lung:	fetal
10	chr12:83082074-83082124	HL-60	blood:	n/a
11	chr12:83079681-83079731	NHDF-neo	bronchial:	n/a
12	chr12:83081046-83081096	HepG2	liver:	n/a
13	chr12:83079969-83080019	ProgFib	skin:	n/a
14	chr12:83081048-83081098	HUVEC	blood vessel:	n/a
15	chr12:83080838-83080888	ProgFib	skin:	n/a
16	chr12:83079969-83080019	SK-N-SH	brain:	n/a
17	chr12:83080834-83080884	SKMC	muscle:	n/a
18	chr12:83081046-83081096	PANC-1	pancreas:	n/a
19	chr12:83079969-83080019	A549	lung:	n/a
20	chr12:83079681-83079731	HNPCEpiC	eye:	n/a
21	chr12:83079551-83079601	SK-N-MC	brain:	n/a
22	chr12:83079681-83079731	AG04450	lung:	fetal
23	chr12:83080838-83080888	SK-N-SH	brain:	n/a
24	chr12:83079969-83080019	HEK293	kidney:	embryo
25	chr12:83080830-83080880	GM12892	blood:	n/a
26	chr12:83080834-83080884	K562	blood:	n/a
27	chr12:83082074-83082124	NHDF-neo	bronchial:	n/a
28	chr12:83080681-83080731	HRPEpiC	eye:	n/a
29	chr12:83081389-83081439	GM12891	blood:	n/a
30	chr12:83080208-83080258	HL-60	blood:	n/a
31	chr12:83079969-83080019	HCPEpiC	choroid plexus:	n/a
32	chr12:83081048-83081098	T-47D	breast:	n/a
33	chr12:83080208-83080258	GM12892	blood:	n/a
34	chr12:83080838-83080888	NHDF-neo	bronchial:	n/a
35	chr12:83080208-83080258	PFSK-1	brain:	n/a
36	chr12:83079969-83080019	AG04450	lung:	fetal
37	chr12:83079551-83079601	HIPEpiC	eye:	n/a
38	chr12:83080834-83080884	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:83081048-83081098	ECC-1	luminal epithelium:	n/a
40	chr12:83079969-83080019	AG09319	gingival:	n/a
41	chr12:83079681-83079731	MCF-7	breast:	n/a
42	chr12:83081046-83081096	U87	brain:	n/a
43	chr12:83081046-83081096	NB4	blood:	n/a
44	chr12:83079681-83079731	NHBE	bronchial:	n/a
45	chr12:83079681-83079731	PFSK-1	brain:	n/a
46	chr12:83081048-83081098	PrEC	prostate:	n/a
47	chr12:83080830-83080880	NB4	blood:	n/a
48	chr12:83080834-83080884	NH-A	brain:	n/a
49	chr12:83081048-83081098	AG09309	skin:	n/a
50	chr12:83081046-83081096	GM19239	blood:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:83079543..83083074-chr12:83085664..83088459,4	MCF-7	breast:
2	chr12:83079676..83081707-chr12:83150851..83153057,2	MCF-7	breast:
3	chr12:83079259..83080112-chr12:83782817..83783839,5	MCF-7	breast:
4	chr12:83082650..83084238-chr12:83109960..83112390,2	MCF-7	breast:
5	chr12:83079877..83081535-chr12:120728404..120731286,2	MCF-7	breast:
6	chr12:83078910..83080496-chr12:83405630..83407973,2	MCF-7	breast:
7	chr12:83079605..83080356-chr12:83398378..83399038,2	MCF-7	breast:
8	chr12:83078866..83080454-chr12:83132820..83134992,2	MCF-7	breast:
9	chr12:83080249..83082936-chr12:83085734..83087836,2	K562	blood:
10	chr12:83079302..83080209-chr12:83828151..83829089,2	MCF-7	breast:
11	chr12:83078982..83081661-chr3:63848631..63850534,2	MCF-7	breast:
12	chr12:83079205..83080097-chr12:84217208..84218130,4	MCF-7	breast:
13	chr12:83079542..83080051-chr12:83782752..83783696,2	MCF-7	breast:
14	chr12:83079157..83079752-chr12:84896786..84897429,2	MCF-7	breast:
15	chr12:83078627..83080390-chr12:83781749..83784378,2	MCF-7	breast:
16	chr12:83077655..83080172-chr12:83389847..83391869,2	MCF-7	breast:
17	chr12:83079314..83080074-chr12:83165496..83166214,2	MCF-7	breast:
18	chr12:83079271..83080216-chr12:84217192..84217878,5	MCF-7	breast:
19	chr12:83080246..83081011-chr12:112123306..112123880,2	NB4	blood:

No data

Variant related genes	Relation type
TMTC2	TF binding region
TMTC2	CpG island
ENSG00000163635	chromatin interactions
ENSG00000179104	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000111271	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000089234	chromatin interactions
ENSG00000202538	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536469573	chr12:83079553-83079554	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs554671884	chr12:83079589-83079590	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs377269505	chr12:83079622-83079623	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs184922214	chr12:83079673-83079674	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs145177347	chr12:83079698-83079699	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs190289741	chr12:83079743-83079744	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs370647735	chr12:83079748-83079749	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs370512441	chr12:83079771-83079772	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs374402435	chr12:83079775-83079776	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs181105411	chr12:83079789-83079790	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs558581840	chr12:83079849-83079850	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs576811673	chr12:83079870-83079871	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs112263696	chr12:83079885-83079886	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs71432131	chr12:83079908-83079909	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs547697423	chr12:83079997-83079998	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs139027878	chr12:83080106-83080107	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs560021125	chr12:83080109-83080110	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs530202365	chr12:83080138-83080139	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs540448269	chr12:83080155-83080156	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs374871022	chr12:83080174-83080175	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs186909849	chr12:83080245-83080246	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs191929914	chr12:83080420-83080421	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs552294597	chr12:83080472-83080473	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs570743536	chr12:83080518-83080519	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs553552481	chr12:83080526-83080527	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs528516434	chr12:83080538-83080539	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs547348703	chr12:83080559-83080560	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs565980594	chr12:83080562-83080563	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs536019350	chr12:83080578-83080579	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs554807028	chr12:83080582-83080583	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs569911677	chr12:83080664-83080665	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs572205455	chr12:83080683-83080684	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs183313385	chr12:83080693-83080694	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs558718131	chr12:83080707-83080708	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs74106267	chr12:83080737-83080738	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549955417	chr12:83080748-83080749	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs56311034	chr12:83080749-83080750	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs371172818	chr12:83080759-83080760	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs74481432	chr12:83080806-83080807	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs553352847	chr12:83080812-83080813	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs575082625	chr12:83080834-83080835	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs542165569	chr12:83080899-83080900	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs563532032	chr12:83080987-83080988	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs371771054	chr12:83081007-83081008	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs545871278	chr12:83081067-83081068	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs55780747	chr12:83081074-83081075	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189056012	chr12:83081096-83081097	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs528441441	chr12:83081131-83081132	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs546983362	chr12:83081137-83081138	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs12422405	chr12:83081182-83081183	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
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
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83075800-83079600	Enhancers	Stomach Mucosa	stomach
2	chr12:83076200-83079600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:83076600-83079600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:83077000-83079600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:83077000-83079600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:83077000-83079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:83077000-83079600	Weak transcription	Brain Anterior Caudate	brain
8	chr12:83077000-83079600	Weak transcription	Fetal Brain Female	brain
9	chr12:83077000-83079600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:83077200-83079600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:83077200-83079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:83077400-83079600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:83079400-83079600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:83079400-83079600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:83079400-83079600	Enhancers	Primary B cells from cord blood	blood
16	chr12:83079400-83079600	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:83079400-83079600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:83079400-83079600	Enhancers	Primary hematopoietic stem cells	blood
19	chr12:83079400-83079600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:83079400-83079600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:83079400-83079600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:83079400-83079600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:83079400-83079600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:83079400-83079600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:83079400-83079600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr12:83079400-83079600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:83079400-83079600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:83079400-83079600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:83079400-83079600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:83079400-83079600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:83079400-83079600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:83079400-83079600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:83079400-83079600	Enhancers	Adipose Nuclei	Adipose
34	chr12:83079400-83079600	Enhancers	Liver	Liver
35	chr12:83079400-83079600	Enhancers	Brain Angular Gyrus	brain
36	chr12:83079400-83079600	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr12:83079400-83079600	Enhancers	Brain Germinal Matrix	brain
38	chr12:83079400-83079600	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr12:83079400-83079600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:83079400-83079600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:83079400-83079600	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr12:83079400-83079600	Enhancers	Colon Smooth Muscle	Colon
43	chr12:83079400-83079600	Enhancers	Duodenum Mucosa	Duodenum
44	chr12:83079400-83079600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr12:83079400-83079600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:83079400-83079600	Enhancers	Fetal Brain Male	brain
47	chr12:83079400-83079600	Enhancers	Fetal Kidney	kidney
48	chr12:83079400-83079600	Enhancers	Fetal Lung	lung
49	chr12:83079400-83079600	Enhancers	Fetal Muscle Trunk	muscle
50	chr12:83079400-83079600	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

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