Variant report

Variant	nsv1047036
Chromosome Location	chr12:119477583-119992640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3638)
CpG islands
(count:3545)
Chromatin interactive
region (count:201)
LncRNA
region (count:44)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3638 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:119499060-119499392	K562	blood:	n/a	n/a
2	ARID3A	chr12:119499033-119499388	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:119803212-119803732	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:119882282-119882529	K562	blood:	n/a	n/a
5	ARID3A	chr12:119951518-119951521	K562	blood:	n/a	n/a
6	ARID3A	chr12:119982854-119983066	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:119938133-119938298	K562	blood:	n/a	n/a
8	ARID3A	chr12:119992403-119992909	K562	blood:	n/a	n/a
9	ARID3A	chr12:119882317-119882590	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:119850974-119851341	K562	blood:	n/a	chr12:119850980-119850996
11	ARID3A	chr12:119851024-119851322	HepG2	liver:	n/a	n/a
12	ATF1	chr12:119600359-119600366	K562	blood:	n/a	n/a
13	ATF1	chr12:119778457-119778752	K562	blood:	n/a	n/a
14	ATF1	chr12:119992486-119992706	K562	blood:	n/a	n/a
15	ATF1	chr12:119614232-119614469	K562	blood:	n/a	chr12:119614355-119614369
16	ATF2	chr12:119526728-119527610	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr12:119617365-119617827	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr12:119882197-119882678	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr12:119526729-119527675	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr12:119848173-119848584	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr12:119591900-119592404	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr12:119553096-119553503	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr12:119594213-119594592	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr12:119614212-119614530	K562	blood:	n/a	chr12:119614357-119614368 chr12:119614358-119614366 chr12:119614356-119614366 chr12:119614358-119614369 chr12:119614355-119614368 chr12:119614356-119614369 chr12:119614357-119614368 chr12:119614355-119614370 chr12:119614359-119614366 chr12:119614356-119614366 chr12:119614356-119614369 chr12:119614358-119614372
25	ATF3	chr12:119882302-119882566	K562	blood:	n/a	n/a
26	ATF3	chr12:119741124-119741413	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF3	chr12:119882230-119882687	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF3	chr12:119741184-119741308	GM12878	blood:	n/a	n/a
29	ATF3	chr12:119741129-119741350	K562	blood:	n/a	n/a
30	ATF3	chr12:119778421-119778778	K562	blood:	n/a	chr12:119778607-119778618 chr12:119778607-119778620 chr12:119778608-119778619 chr12:119778606-119778616 chr12:119778606-119778619 chr12:119778609-119778619 chr12:119778606-119778619 chr12:119778609-119778619 chr12:119778609-119778616 chr12:119778608-119778616 chr12:119778605-119778620 chr12:119778607-119778618 chr12:119778605-119778618
31	BACH1	chr12:119765991-119766222	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr12:119656099-119656299	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr12:119591282-119592496	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr12:119499032-119499361	K562	blood:	n/a	n/a
35	BACH1	chr12:119712493-119712720	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr12:119479607-119479675	K562	blood:	n/a	n/a
37	BACH1	chr12:119895046-119895404	K562	blood:	n/a	n/a
38	BACH1	chr12:119894800-119895706	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr12:119618122-119618557	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr12:119498826-119499422	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr12:119591433-119591794	K562	blood:	n/a	n/a
42	BACH1	chr12:119674225-119674313	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr12:119886603-119886864	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr12:119835465-119835564	K562	blood:	n/a	n/a
45	BATF	chr12:119813500-119813772	GM12878	blood:	n/a	chr12:119813647-119813658
46	BATF	chr12:119813452-119813791	GM12878	blood:	n/a	chr12:119813647-119813658
47	BCL11A	chr12:119776785-119777103	H1-hESC	embryonic stem cell:	n/a	n/a
48	BCL11A	chr12:119527073-119527428	H1-hESC	embryonic stem cell:	n/a	n/a
49	BCL3	chr12:119917040-119917391	GM12878	blood:	n/a	chr12:119917213-119917222 chr12:119917357-119917365 chr12:119917214-119917223
50	BCL3	chr12:119917163-119917405	GM12878	blood:	n/a	chr12:119917213-119917222 chr12:119917357-119917365 chr12:119917214-119917223

(count:3545 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:119772381-119772431	U87	brain:	n/a
2	chr12:119632882-119632932	HUVEC	blood vessel:	n/a
3	chr12:119836215-119836265	AG04450	lung:	fetal
4	chr12:119582189-119582239	HRPEpiC	eye:	n/a
5	chr12:119619434-119619484	AG04450	lung:	fetal
6	chr12:119741507-119741557	HRCEpiC	kidney:	n/a
7	chr12:119589848-119589898	H1-hESC	embryonic stem cell:	embryo
8	chr12:119772381-119772431	U87	brain:	n/a
9	chr12:119632882-119632932	HUVEC	blood vessel:	n/a
10	chr12:119836215-119836265	AG04450	lung:	fetal
11	chr12:119582189-119582239	HRPEpiC	eye:	n/a
12	chr12:119619434-119619484	AG04450	lung:	fetal
13	chr12:119741507-119741557	HRCEpiC	kidney:	n/a
14	chr12:119589848-119589898	H1-hESC	embryonic stem cell:	embryo
15	chr12:119772381-119772431	HRE	kidney:	n/a
16	chr12:119592035-119592085	ECC-1	luminal epithelium:	n/a
17	chr12:119715090-119715140	HNPCEpiC	eye:	n/a
18	chr12:119534133-119534183	HEK293	kidney:	embryo
19	chr12:119616440-119616490	ProgFib	skin:	n/a
20	chr12:119616618-119616668	HCPEpiC	choroid plexus:	n/a
21	chr12:119633116-119633166	SAEC	small airway:	n/a
22	chr12:119591664-119591714	SK-N-SH	brain:	n/a
23	chr12:119616616-119616666	LNCaP	prostate:	n/a
24	chr12:119619434-119619484	HepG2	liver:	n/a
25	chr12:119617656-119617706	HCPEpiC	choroid plexus:	n/a
26	chr12:119663566-119663616	K562	blood:	n/a
27	chr12:119591747-119591797	Hela-S3	cervix:	n/a
28	chr12:119633116-119633166	AG09319	gingival:	n/a
29	chr12:119626409-119626459	AG04450	lung:	fetal
30	chr12:119663566-119663616	H1-hESC	embryonic stem cell:	embryo
31	chr12:119771257-119771307	HEK293	kidney:	embryo
32	chr12:119616440-119616490	HAEpiC	amniotic membrane:	n/a
33	chr12:119771257-119771307	HRCEpiC	kidney:	n/a
34	chr12:119615508-119615558	AG04450	lung:	fetal
35	chr12:119771596-119771646	K562	blood:	n/a
36	chr12:119772381-119772431	AG04449	skin:	fetal
37	chr12:119616484-119616534	HEK293	kidney:	embryo
38	chr12:119616618-119616668	HEEpiC	esophagus:	n/a
39	chr12:119616913-119616963	HRCEpiC	kidney:	n/a
40	chr12:119617656-119617706	HRCEpiC	kidney:	n/a
41	chr12:119798505-119798555	PFSK-1	brain:	n/a
42	chr12:119616440-119616490	Caco-2	colon:	n/a
43	chr12:119526804-119526854	AG09309	skin:	n/a
44	chr12:119818931-119818981	Caco-2	colon:	n/a
45	chr12:119632882-119632932	HRPEpiC	eye:	n/a
46	chr12:119633116-119633166	HRE	kidney:	n/a
47	chr12:119563359-119563409	A549	lung:	n/a
48	chr12:119769357-119769407	U87	brain:	n/a
49	chr12:119772577-119772627	LNCaP	prostate:	n/a
50	chr12:119616618-119616668	ECC-1	luminal epithelium:	n/a

(count:201 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr12:119551723..119553234-chr12:119616700..119619134,2	MCF-7	breast:
2	chr12:119598066..119598619-chr12:119608830..119609501,2	MCF-7	breast:
3	chr12:119957963..119959771-chr12:119961069..119962984,2	K562	blood:
4	chr12:119850762..119851328-chr12:119881955..119882815,2	MCF-7	breast:
5	chr12:119764864..119767176-chr12:119782140..119784942,2	MCF-7	breast:
6	chr12:119882836..119888025-chr12:119914651..119920477,9	MCF-7	breast:
7	chr12:119608797..119609566-chr12:119917639..119918162,2	MCF-7	breast:
8	chr12:119551723..119553234-chr12:119616700..119619134,2	MCF-7	breast:
9	chr12:119601217..119604104-chr12:119604758..119606634,2	MCF-7	breast:
10	chr12:119417235..119417851-chr12:119850790..119851632,2	K562	blood:
11	chr12:119151694..119152462-chr12:119850745..119851652,2	MCF-7	breast:
12	chr12:119608770..119609567-chr20:52811534..52812044,2	MCF-7	breast:
13	chr12:119608797..119609566-chr12:119917639..119918162,2	MCF-7	breast:
14	chr12:119616453..119622468-chr12:119623323..119627109,7	MCF-7	breast:
15	chr12:119488192..119491190-chr12:119493601..119496184,2	K562	blood:
16	chr12:119552855..119553752-chr12:119850687..119851631,3	MCF-7	breast:
17	chr12:119608735..119609683-chr12:119917365..119918631,5	MCF-7	breast:
18	chr12:119520274..119523110-chr12:119524611..119526386,2	K562	blood:
19	chr12:119881941..119882941-chr12:119916276..119917584,7	MCF-7	breast:
20	chr12:119982745..119983465-chr12:120086574..120087357,2	MCF-7	breast:
21	chr12:119891011..119892854-chr12:119894450..119896303,2	K562	blood:
22	chr12:119608746..119609266-chr12:123554233..123554844,2	MCF-7	breast:
23	chr12:119992598..119995393-chr12:120116736..120118887,2	K562	blood:
24	chr12:119598066..119598619-chr12:119608830..119609501,2	MCF-7	breast:
25	chr12:119880394..119882364-chr12:120088666..120091224,2	K562	blood:
26	chr12:119894815..119897126-chr12:119915080..119916947,2	MCF-7	breast:
27	chr12:119520274..119523110-chr12:119524611..119526386,2	K562	blood:
28	chr12:119900036..119902719-chr12:119904241..119906151,2	MCF-7	breast:
29	chr12:119519961..119522229-chr12:119531990..119534794,2	MCF-7	breast:
30	chr12:119944949..119947122-chr12:119948391..119950597,2	MCF-7	breast:
31	chr12:119856526..119857034-chr12:119982637..119983547,2	MCF-7	breast:
32	chr12:119615382..119618298-chr12:119627712..119631261,4	MCF-7	breast:
33	chr12:119903985..119904616-chr16:83281227..83281958,2	MCF-7	breast:
34	chr12:119861971..119864906-chr12:119864949..119866973,2	K562	blood:
35	chr12:119488192..119491190-chr12:119493601..119496184,2	K562	blood:
36	chr12:119856554..119857225-chr12:120086612..120087366,2	MCF-7	breast:
37	chr12:119585579..119587341-chr12:119589077..119590928,2	MCF-7	breast:
38	chr12:119615010..119617058-chr12:119633848..119636832,2	MCF-7	breast:
39	chr12:119458483..119459134-chr12:119850426..119851166,2	MCF-7	breast:
40	chr12:119608735..119609705-chr12:119917084..119918539,5	MCF-7	breast:
41	chr12:119894048..119897189-chr12:119897417..119901557,3	MCF-7	breast:
42	chr12:119982545..119983214-chr12:120086741..120087696,2	MCF-7	breast:
43	chr12:119519975..119520880-chr12:119608658..119609701,6	MCF-7	breast:
44	chr12:119717074..119719997-chr12:119720891..119724603,3	K562	blood:
45	chr12:119881958..119882695-chr12:119909939..119910747,2	MCF-7	breast:
46	chr12:119881941..119882941-chr12:119916276..119917584,7	MCF-7	breast:
47	chr12:119556238..119556739-chr12:119608863..119609678,2	MCF-7	breast:
48	chr12:119598755..119600296-chr12:119601799..119603390,2	MCF-7	breast:
49	chr12:119884170..119886669-chr12:119907722..119909768,2	MCF-7	breast:
50	chr12:119886069..119888446-chr12:119896498..119898792,2	MCF-7	breast:

(count:44 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSPB8-7	chr12:119885559-119885717	NONHSAT031079
2	lnc-HSPB8-5	chr12:119829841-119830126	l_741_chr12:119826869-119830126_testes
3	lnc-CIT-3	chr12:119696754-119696822	ENSG00000256311.1
4	lnc-SRRM4-1	chr12:119651505-119651546	NONHSAT031073
5	lnc-HSPB8-5	chr12:119826870-119826981	l_741_chr12:119826869-119830126_testes
6	lnc-CIT-4	chr12:119620679-119621064	ENSG00000256609.1
7	lnc-CIT-1	chr12:119825796-119826133	ENSG00000248636
8	lnc-HSPB8-1	chr12:119609311-119609381	XLOC_009908
9	lnc-SRRM4-1	chr12:119658518-119658735	NONHSAT031073
10	lnc-CIT-5	chr12:119611870-119612368	ENSG00000256884.1
11	lnc-CIT-2	chr12:119741140-119741185	XLOC_010217
12	lnc-CIT-2	chr12:119722577-119723541	XLOC_010217
13	lnc-CIT-9	chr12:119698581-119698874	NONHSAT031076
14	lnc-CIT-3	chr12:119674429-119674565	ENSG00000256311.1
15	lnc-CIT-1	chr12:119825796-119826072	ENSG00000248636
16	lnc-CIT-2	chr12:119721630-119722486	XLOC_010217
17	lnc-CIT-2	chr12:119722573-119722665	NONHSAT031078
18	lnc-CIT-2	chr12:119723322-119723541	NONHSAT031078
19	lnc-CIT-9	chr12:119710068-119710249	NONHSAT031076
20	lnc-CIT-1	chr12:119991363-119991450	NONHSAT031083
21	lnc-CIT-1	chr12:119991353-119991450	ENSG00000248636
22	lnc-CIT-2	chr12:119731250-119731344	NONHSAT031078
23	lnc-CIT-10	chr12:119551800-119552682	l_740_chr12:119551799-119562709_brain
24	lnc-CIT-4	chr12:119619853-119620007	ENSG00000256609.1
25	lnc-HSPB8-7	chr12:119773016-119773071	NONHSAT031079
26	lnc-SRRM4-1	chr12:119658519-119658735	XLOC_009909
27	lnc-HSPB8-5	chr12:119827076-119827542	l_741_chr12:119826869-119830126_testes
28	lnc-CIT-3	chr12:119663639-119663668	ENSG00000256311.1
29	lnc-CIT-10	chr12:119562236-119562709	l_740_chr12:119551799-119562709_brain
30	lnc-CIT-1	chr12:119991353-119991450	ENSG00000248636
31	lnc-CIT-3	chr12:119664192-119664352	ENSG00000256311.1
32	lnc-CIT-6	chr12:119507420-119507484	ENSG00000257095.1
33	lnc-HSPB8-7	chr12:119867381-119867531	NONHSAT031079
34	lnc-HSPB8-7	chr12:119866488-119866567	NONHSAT031079
35	lnc-CIT-2	chr12:119722577-119722592	XLOC_010217
36	lnc-CIT-6	chr12:119554692-119554766	ENSG00000257095.1
37	lnc-CIT-3	chr12:119674718-119674821	ENSG00000256311.1
38	lnc-SRRM4-1	chr12:119651506-119651546	XLOC_009909
39	lnc-HSPB8-1	chr12:119611732-119611803	XLOC_009908
40	lnc-HSPB8-1	chr12:119612167-119612391	XLOC_009908
41	lnc-CIT-5	chr12:119614212-119614289	ENSG00000256884.1
42	lnc-CIT-8	chr12:119892024-119894478	l_742_NR_024345
43	lnc-CIT-2	chr12:119739414-119739836	XLOC_010217
44	lnc-CIT-2	chr12:119721823-119722486	XLOC_010217

No data

Variant related genes	Relation type
ENSG00000256311	TF binding region
HSPB8	TF binding region
ENSG00000213144	TF binding region
ENSG00000256884	TF binding region
SRRM4	TF binding region
ENSG00000257095	TF binding region
CCDC60	TF binding region
ENSG00000256609	TF binding region
ENSG00000256311	CpG island
HSPB8	CpG island
ENSG00000213144	CpG island
ENSG00000256884	CpG island
SRRM4	CpG island
ENSG00000257095	CpG island
CCDC60	CpG island
ENSG00000256609	CpG island
ENSG00000256609	chromatin interactions
ENSG00000205581	chromatin interactions
ENSG00000152137	chromatin interactions
ENSG00000139767	chromatin interactions
ENSG00000111725	chromatin interactions
ENSG00000213144	chromatin interactions
ENSG00000257095	chromatin interactions
MEST	miRNA target sites
SIX4	miRNA target sites
ZCCHC11	miRNA target sites
METAP1	miRNA target sites
MIDN	miRNA target sites

Extended variants
information (count: 16707 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:16707 , 50 per page) page: 1 2 3 4 5 6 7 ... 335

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530082948	chr12:119477597-119477598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74929260	chr12:119477646-119477647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376859045	chr12:119477653-119477654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147777632	chr12:119477654-119477655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs59219951	chr12:119477671-119477672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570316922	chr12:119477809-119477810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539246011	chr12:119477846-119477847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61683051	chr12:119477860-119477861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145330622	chr12:119477913-119477914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58832215	chr12:119477940-119477941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554615614	chr12:119477946-119477947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35722093	chr12:119477955-119477956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34118611	chr12:119477964-119477965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372020116	chr12:119477987-119477988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564022685	chr12:119477988-119477989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559926723	chr12:119477992-119477993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57507061	chr12:119478016-119478017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10775014	chr12:119478021-119478022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186141930	chr12:119478025-119478026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556844029	chr12:119478041-119478042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201592980	chr12:119478045-119478046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190994685	chr12:119478069-119478070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545686630	chr12:119478084-119478085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61937968	chr12:119478183-119478184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572980721	chr12:119478245-119478246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552668196	chr12:119478276-119478277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541185207	chr12:119478283-119478284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561407964	chr12:119478320-119478321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143191583	chr12:119478327-119478328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148244909	chr12:119478333-119478334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563664032	chr12:119478346-119478347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571967522	chr12:119478378-119478379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532903707	chr12:119478403-119478404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181988385	chr12:119478425-119478426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186169229	chr12:119478430-119478431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140366461	chr12:119478460-119478461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369448085	chr12:119478469-119478470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143225410	chr12:119478478-119478479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4767760	chr12:119478490-119478491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs113160461	chr12:119478511-119478512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548547262	chr12:119478535-119478536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370184183	chr12:119478588-119478589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145325086	chr12:119478639-119478640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556584989	chr12:119478653-119478654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137955996	chr12:119478661-119478662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190580643	chr12:119478662-119478663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112232554	chr12:119478712-119478713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539388453	chr12:119478716-119478717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577517082	chr12:119478730-119478731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78390648	chr12:119478761-119478762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Autism	22495311	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
Sudden cardiac death	19188705	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3164 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119474400-119479400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:119474800-119479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:119475000-119487800	Weak transcription	Brain Germinal Matrix	brain
4	chr12:119475200-119505800	Weak transcription	Fetal Brain Female	brain
5	chr12:119477200-119477800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:119477600-119493800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:119477800-119482800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:119479400-119480000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:119479600-119480000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:119482600-119483000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:119482800-119483000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:119487000-119492600	Weak transcription	Fetal Brain Male	brain
13	chr12:119487800-119489200	Strong transcription	Brain Germinal Matrix	brain
14	chr12:119489200-119497200	Weak transcription	Brain Germinal Matrix	brain
15	chr12:119492600-119493000	Enhancers	Fetal Brain Male	brain
16	chr12:119493000-119498800	Weak transcription	Fetal Brain Male	brain
17	chr12:119493600-119494400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:119496600-119496800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:119497000-119498800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:119497200-119497600	Strong transcription	Brain Germinal Matrix	brain
21	chr12:119497600-119498800	Weak transcription	Brain Germinal Matrix	brain
22	chr12:119498600-119499000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:119498600-119499000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr12:119498600-119499000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr12:119498600-119499000	Enhancers	Pancreas	Pancrea
26	chr12:119498600-119499200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:119498800-119499000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr12:119498800-119499000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr12:119498800-119499200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:119498800-119499200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr12:119498800-119499200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr12:119498800-119499200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:119498800-119499200	Enhancers	Fetal Brain Male	brain
34	chr12:119498800-119499400	Enhancers	Brain Germinal Matrix	brain
35	chr12:119498800-119499600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:119499000-119499200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:119499000-119504800	Weak transcription	Pancreas	Pancrea
38	chr12:119499400-119506800	Weak transcription	Brain Germinal Matrix	brain
39	chr12:119502400-119502600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:119504000-119505800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:119504800-119505000	Enhancers	Pancreas	Pancrea
42	chr12:119505000-119505800	Weak transcription	Pancreas	Pancrea
43	chr12:119505800-119506000	Enhancers	Right Atrium	heart
44	chr12:119505800-119506200	Enhancers	Fetal Brain Female	brain
45	chr12:119505800-119506600	Enhancers	Fetal Brain Male	brain
46	chr12:119505800-119506800	Enhancers	Pancreas	Pancrea
47	chr12:119505800-119507000	Enhancers	Right Ventricle	heart
48	chr12:119505800-119507200	Enhancers	Left Ventricle	heart
49	chr12:119505800-119507400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:119505800-119507400	Enhancers	Fetal Muscle Leg	muscle

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