Variant report

Variant	esv3492533
Chromosome Location	chr12:56582085-56584833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:939)
CpG islands
(count:489)
Chromatin interactive
region (count:58)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:939 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:56583394-56583594	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:56583443-56583510	K562	blood:	n/a	n/a
3	ARID3A	chr12:56583856-56584290	K562	blood:	n/a	n/a
4	ATF2	chr12:56583648-56584347	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr12:56583851-56584426	GM12878	blood:	n/a	n/a
6	ATF2	chr12:56583899-56584349	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:56583893-56584343	GM12878	blood:	n/a	n/a
8	ATF3	chr12:56583837-56584368	K562	blood:	n/a	n/a
9	ATF3	chr12:56583237-56584493	A549	lung:	n/a	chr12:56583408-56583417
10	ATF3	chr12:56583343-56584571	A549	lung:	n/a	chr12:56583408-56583417
11	BACH1	chr12:56583466-56583664	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr12:56583880-56584102	K562	blood:	n/a	n/a
13	BCL3	chr12:56583377-56584359	A549	lung:	n/a	chr12:56583412-56583421 chr12:56583410-56583423 chr12:56583458-56583467 chr12:56583415-56583424 chr12:56583409-56583418
14	BCL3	chr12:56583800-56584381	A549	lung:	n/a	n/a
15	BCLAF1	chr12:56583379-56583669	GM12878	blood:	n/a	chr12:56583412-56583421 chr12:56583410-56583423 chr12:56583458-56583467 chr12:56583415-56583424 chr12:56583409-56583418
16	BCLAF1	chr12:56583189-56584351	GM12878	blood:	n/a	chr12:56583412-56583421 chr12:56583410-56583423 chr12:56583458-56583467 chr12:56583415-56583424 chr12:56583409-56583418
17	BDP1	chr12:56583895-56584323	K562	blood:	n/a	n/a
18	BDP1	chr12:56583888-56584344	Hela-S3	cervix:	n/a	n/a
19	BHLHE40	chr12:56583278-56583589	GM12878	blood:	n/a	chr12:56583405-56583421
20	BHLHE40	chr12:56583367-56584275	K562	blood:	n/a	chr12:56583405-56583421
21	BRCA1	chr12:56583960-56584220	HepG2	liver:	n/a	n/a
22	BRCA1	chr12:56583372-56583559	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr12:56583960-56584296	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr12:56583935-56584273	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr12:56584008-56584269	GM12878	blood:	n/a	n/a
26	BRCA1	chr12:56583450-56583690	Hela-S3	cervix:	n/a	n/a
27	BRF1	chr12:56583959-56584297	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr12:56583700-56584263	K562	blood:	n/a	n/a
29	CBX3	chr12:56583299-56583717	K562	blood:	n/a	n/a
30	CBX3	chr12:56583363-56583615	K562	blood:	n/a	n/a
31	CBX3	chr12:56583784-56584944	K562	blood:	n/a	n/a
32	CCNT2	chr12:56583094-56584196	K562	blood:	n/a	chr12:56584024-56584033
33	CEBPB	chr12:56583435-56583616	HepG2	liver:	n/a	n/a
34	CEBPB	chr12:56583899-56584344	HepG2	liver:	n/a	n/a
35	CEBPB	chr12:56583900-56584311	ECC-1	luminal epithelium:	n/a	n/a
36	CEBPB	chr12:56583834-56584363	A549	lung:	n/a	n/a
37	CEBPB	chr12:56583745-56584377	GM12878	blood:	n/a	n/a
38	CEBPB	chr12:56583362-56583665	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr12:56583954-56584257	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr12:56583978-56584251	K562	blood:	n/a	n/a
41	CEBPB	chr12:56583937-56584278	K562	blood:	n/a	n/a
42	CEBPB	chr12:56583957-56584239	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr12:56584682-56584964	K562	blood:	n/a	chr12:56584825-56584838
44	CHD1	chr12:56583057-56584398	IMR90	lung:	n/a	chr12:56583776-56583786
45	CHD1	chr12:56582150-56582245	GM12878	blood:	n/a	n/a
46	CHD1	chr12:56583116-56584154	GM12878	blood:	n/a	chr12:56583776-56583786
47	CHD1	chr12:56583421-56584210	H1-hESC	embryonic stem cell:	n/a	chr12:56583776-56583786
48	CHD2	chr12:56583497-56583578	K562	blood:	n/a	n/a
49	CHD2	chr12:56583445-56583578	HepG2	liver:	n/a	n/a
50	CHD2	chr12:56583353-56583671	Hela-S3	cervix:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56583536-56583586	HRE	kidney:	n/a
2	chr12:56583536-56583586	HRE	kidney:	n/a
3	chr12:56584075-56584125	HCF	heart:	n/a
4	chr12:56584075-56584125	AG04450	lung:	fetal
5	chr12:56584075-56584125	NB4	blood:	n/a
6	chr12:56583252-56583302	SKMC	muscle:	n/a
7	chr12:56584202-56584252	U87	brain:	n/a
8	chr12:56583123-56583173	SK-N-SH	brain:	n/a
9	chr12:56583490-56583540	HepG2	liver:	n/a
10	chr12:56583123-56583173	HepG2	liver:	n/a
11	chr12:56583536-56583586	HCM	heart:	n/a
12	chr12:56583123-56583173	CMK	blood:	n/a
13	chr12:56583252-56583302	Hepatocyte	liver:	n/a
14	chr12:56584075-56584125	SK-N-SH_RA	brain:	n/a
15	chr12:56583610-56583660	MCF10A-Er-Src	breast:	n/a
16	chr12:56584075-56584125	CMK	blood:	n/a
17	chr12:56583610-56583660	HMEC	breast:	n/a
18	chr12:56584202-56584252	SAEC	small airway:	n/a
19	chr12:56584181-56584231	Caco-2	colon:	n/a
20	chr12:56584202-56584252	ECC-1	luminal epithelium:	n/a
21	chr12:56584202-56584252	GM12878	blood:	n/a
22	chr12:56583252-56583302	PrEC	prostate:	n/a
23	chr12:56584181-56584231	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:56584181-56584231	NT2-D1	testis:	n/a
25	chr12:56584202-56584252	GM12891	blood:	n/a
26	chr12:56583490-56583540	Hela-S3	cervix:	n/a
27	chr12:56583252-56583302	HL-60	blood:	n/a
28	chr12:56583252-56583302	NHDF-neo	bronchial:	n/a
29	chr12:56584075-56584125	AG09319	gingival:	n/a
30	chr12:56583610-56583660	MCF-7	breast:	n/a
31	chr12:56584075-56584125	A549	lung:	n/a
32	chr12:56583252-56583302	ProgFib	skin:	n/a
33	chr12:56583123-56583173	Hela-S3	cervix:	n/a
34	chr12:56583610-56583660	HL-60	blood:	n/a
35	chr12:56583252-56583302	AG09319	gingival:	n/a
36	chr12:56583252-56583302	CMK	blood:	n/a
37	chr12:56583490-56583540	HAEpiC	amniotic membrane:	n/a
38	chr12:56583610-56583660	A549	lung:	n/a
39	chr12:56583252-56583302	U87	brain:	n/a
40	chr12:56583490-56583540	HRCEpiC	kidney:	n/a
41	chr12:56584075-56584125	HL-60	blood:	n/a
42	chr12:56583123-56583173	HRCEpiC	kidney:	n/a
43	chr12:56583123-56583173	GM12878	blood:	n/a
44	chr12:56583490-56583540	K562	blood:	n/a
45	chr12:56584202-56584252	H1-hESC	embryonic stem cell:	embryo
46	chr12:56584202-56584252	HCT-116	colon:	n/a
47	chr12:56584202-56584252	HRCEpiC	kidney:	n/a
48	chr12:56584181-56584231	MCF10A-Er-Src	breast:	n/a
49	chr12:56583490-56583540	HEEpiC	esophagus:	n/a
50	chr12:56583490-56583540	CMK	blood:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:56582084..56583845-chr12:56753291..56755155,2	MCF-7	breast:
2	chr12:56583418..56584005-chr12:56651692..56652463,2	MCF-7	breast:
3	chr12:56583246..56583812-chr12:56617774..56618395,2	MCF-7	breast:
4	chr12:56511802..56513894-chr12:56582502..56584213,17	K562	blood:
5	chr12:56434140..56437753-chr12:56579716..56586472,8	K562	blood:
6	chr12:56518236..56525779-chr12:56581707..56584752,14	MCF-7	breast:
7	chr12:56571959..56574915-chr12:56577740..56582671,5	K562	blood:
8	chr12:56573305..56575645-chr12:56580157..56583977,4	MCF-7	breast:
9	chr12:56582633..56585522-chr12:56623000..56624592,2	MCF-7	breast:
10	chr12:56582670..56585645-chr12:56588160..56590728,3	MCF-7	breast:
11	chr12:56583235..56585154-chr12:56650552..56653890,4	MCF-7	breast:
12	chr12:56551464..56551970-chr12:56582916..56583452,2	K562	blood:
13	chr12:56438470..56440539-chr12:56581199..56583152,2	MCF-7	breast:
14	chr12:56438264..56440489-chr12:56580278..56583013,2	K562	blood:
15	chr12:56576539..56578813-chr12:56582057..56584361,3	MCF-7	breast:
16	chr12:56579705..56582945-chr12:57008774..57012343,3	K562	blood:
17	chr12:56583086..56583882-chr3:54156501..54157004,2	K562	blood:
18	chr12:56579404..56590957-chr12:56614094..56620955,25	MCF-7	breast:
19	chr12:56473891..56477008-chr12:56583227..56585798,3	MCF-7	breast:
20	chr12:56581127..56584994-chr12:56605345..56610385,5	MCF-7	breast:
21	chr12:56471773..56473487-chr12:56580926..56582865,2	MCF-7	breast:
22	chr12:56507991..56525761-chr12:56579808..56586137,68	MCF-7	breast:
23	chr12:56580530..56583816-chr12:56859558..56862740,3	K562	blood:
24	chr12:56512788..56513764-chr12:56582958..56583860,7	MCF-7	breast:
25	chr12:56579972..56582129-chr12:56725989..56727563,2	MCF-7	breast:
26	chr12:56582602..56584894-chr12:56615504..56618371,3	K562	blood:
27	chr12:56480948..56483944-chr12:56582412..56584224,2	MCF-7	breast:
28	chr12:56550178..56557145-chr12:56575233..56584234,22	MCF-7	breast:
29	chr12:56551518..56552159-chr12:56582778..56583751,4	MCF-7	breast:
30	chr12:56581557..56584767-chr12:56708519..56710789,3	K562	blood:
31	chr12:56583197..56585219-chr12:56650966..56653576,3	MCF-7	breast:
32	chr12:56583291..56584232-chr12:56617785..56618516,2	MCF-7	breast:
33	chr12:56583397..56584102-chr19:48111105..48111640,2	NB4	blood:
34	chr12:56368058..56369661-chr12:56581605..56583172,2	MCF-7	breast:
35	chr12:56568053..56570139-chr12:56582886..56584432,2	MCF-7	breast:
36	chr12:56582327..56583849-chr12:56861847..56864785,2	MCF-7	breast:
37	chr12:56582602..56584136-chr12:56615794..56617313,2	K562	blood:
38	chr12:56434274..56437218-chr12:56582509..56584521,4	MCF-7	breast:
39	chr12:56512777..56513734-chr12:56583353..56584069,3	MCF-7	breast:
40	chr12:56583715..56585705-chr12:56588416..56589988,2	K562	blood:
41	chr12:56583290..56583861-chr12:56615727..56616256,2	K562	blood:
42	chr12:56581482..56583499-chr12:56651380..56653710,2	K562	blood:
43	chr12:56582915..56585012-chr12:56659471..56660986,2	K562	blood:
44	chr12:56583077..56583903-chr12:56651754..56652414,2	MCF-7	breast:
45	chr12:56583529..56586106-chr12:57117314..57120068,2	MCF-7	breast:
46	chr12:56583501..56584230-chr16:3333583..3334447,2	Hela-S3	cervix:
47	chr12:56508832..56515879-chr12:56578376..56587782,37	MCF-7	breast:
48	chr12:56580668..56582547-chr12:56650453..56653065,2	MCF-7	breast:
49	chr12:56471914..56476515-chr12:56581933..56586574,4	MCF-7	breast:
50	chr12:56584083..56585735-chr12:56692610..56695169,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCC2-1	chr12:56583857-56584068	ENSG00000258199.1

No data

Variant related genes	Relation type
ENSG00000258199	TF binding region
RN7SL770P	TF binding region
SMARCC2	TF binding region
ENSG00000258199	CpG island
RN7SL770P	CpG island
SMARCC2	CpG island
ENSG00000170581	chromatin interactions
ENSG00000258317	chromatin interactions
ENSG00000257449	chromatin interactions
ENSG00000135469	chromatin interactions
ENSG00000197728	chromatin interactions
ENSG00000266023	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000092841	chromatin interactions
ENSG00000100504	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000257303	chromatin interactions
ENSG00000144785	chromatin interactions
ENSG00000157445	chromatin interactions
ENSG00000196531	chromatin interactions
ENSG00000258345	chromatin interactions
ENSG00000135517	chromatin interactions
ENSG00000139540	chromatin interactions
ENSG00000139613	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000139645	chromatin interactions
ENSG00000196465	chromatin interactions
ENSG00000006194	chromatin interactions
ENSG00000135473	chromatin interactions
ENSG00000257727	chromatin interactions
ENSG00000139579	chromatin interactions
ENSG00000065361	chromatin interactions
ENSG00000063169	chromatin interactions
ENSG00000176422	chromatin interactions
ENSG00000181852	chromatin interactions
ENSG00000062485	chromatin interactions
ENSG00000257809	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376963230	chr12:56582099-56582100	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
2	rs369534745	chr12:56582137-56582138	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
3	rs61939011	chr12:56582192-56582193	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs370439869	chr12:56582217-56582218	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
5	rs556332886	chr12:56582245-56582246	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
6	rs76204194	chr12:56582303-56582304	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
7	rs566146008	chr12:56582335-56582336	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
8	rs149844470	chr12:56582396-56582397	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
9	rs554004547	chr12:56582404-56582405	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
10	rs184829240	chr12:56582456-56582457	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
11	rs563117430	chr12:56582460-56582461	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
12	rs145855337	chr12:56582482-56582483	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
13	rs573747223	chr12:56582524-56582525	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
14	rs544292936	chr12:56582532-56582533	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
15	rs188604410	chr12:56582680-56582681	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
16	rs533523622	chr12:56582748-56582749	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
17	rs71446537	chr12:56582831-56582832	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
18	rs545296559	chr12:56582836-56582837	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
19	rs560804128	chr12:56582902-56582903	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
20	rs527964061	chr12:56583083-56583084	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
21	rs148514904	chr12:56583165-56583166	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
22	rs368532259	chr12:56583187-56583188	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
23	rs200089721	chr12:56583193-56583194	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
24	rs201735267	chr12:56583207-56583208	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
25	rs200020901	chr12:56583221-56583222	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
26	rs141878487	chr12:56583238-56583239	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
27	rs370944072	chr12:56583261-56583262	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
28	rs531341466	chr12:56583269-56583270	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
29	rs374299286	chr12:56583271-56583272	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
30	rs368507683	chr12:56583272-56583273	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
31	rs571273974	chr12:56583291-56583292	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
32	rs538790032	chr12:56583482-56583483	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
33	rs11171773	chr12:56583486-56583487	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565893409	chr12:56583565-56583566	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
35	rs536155380	chr12:56583574-56583575	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
36	rs7977273	chr12:56583644-56583645	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149015999	chr12:56583679-56583680	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
38	rs544204855	chr12:56583781-56583782	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
39	rs556211732	chr12:56583784-56583785	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
40	rs539388078	chr12:56583820-56583821	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
41	rs6581091	chr12:56583824-56583825	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560516779	chr12:56583842-56583843	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
43	rs566520960	chr12:56583939-56583940	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
44	rs527926108	chr12:56583943-56583944	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
45	rs543302446	chr12:56584008-56584009	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
46	rs535236631	chr12:56584025-56584026	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
47	rs368851675	chr12:56584027-56584028	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
48	rs145573777	chr12:56584042-56584043	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
49	rs531302538	chr12:56584056-56584057	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
50	rs191549884	chr12:56584081-56584082	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Thoracic aortic aneurysm	21092924	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
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Multiple myeloma	16616336	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	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
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56579200-56582200	Weak transcription	Aorta	Aorta
2	chr12:56580200-56582200	Weak transcription	Ovary	ovary
3	chr12:56580800-56582200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:56580800-56582800	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr12:56581000-56582400	Transcr. at gene 5' and 3'	K562	blood
6	chr12:56581000-56582600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:56581000-56582800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr12:56581000-56582800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:56581200-56582200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:56581200-56582200	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr12:56581200-56582200	Enhancers	Spleen	Spleen
12	chr12:56581200-56582200	Flanking Active TSS	NHLF	lung
13	chr12:56581200-56582600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:56581200-56582600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:56581200-56582600	Flanking Active TSS	Hela-S3	cervix
16	chr12:56581200-56582800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr12:56581200-56582800	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr12:56581200-56582800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr12:56581400-56582200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:56581400-56582200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr12:56581400-56582200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:56581400-56582200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:56581400-56582200	Flanking Active TSS	Fetal Brain Female	brain
24	chr12:56581400-56582200	Flanking Active TSS	Thymus	Thymus
25	chr12:56581400-56582200	Flanking Active TSS	NHDF-Ad	bronchial
26	chr12:56581400-56582400	Flanking Active TSS	Fetal Heart	heart
27	chr12:56581400-56582400	Flanking Active TSS	Fetal Lung	lung
28	chr12:56581400-56582600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr12:56581400-56582800	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr12:56581400-56584600	Active TSS	Fetal Kidney	kidney
31	chr12:56581400-56584800	Active TSS	Colonic Mucosa	Colon
32	chr12:56581600-56582200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:56581600-56582200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:56581600-56582200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:56581600-56582200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr12:56581600-56582200	Flanking Active TSS	Fetal Brain Male	brain
37	chr12:56581600-56582200	Enhancers	Placenta	Placenta
38	chr12:56581600-56582200	Enhancers	Pancreas	Pancrea
39	chr12:56581600-56582400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:56581600-56582400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr12:56581600-56582400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:56581600-56582400	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr12:56581600-56582400	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr12:56581600-56582400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr12:56581600-56582400	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr12:56581600-56582600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:56581600-56582600	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr12:56581600-56582600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:56581600-56582600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr12:56581600-56582600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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