Variant report

Variant	nsv899569
Chromosome Location	chr12:122478728-122630909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4060)
CpG islands
(count:1960)
Chromatin interactive
region (count:250)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:4060 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:122478663-122478753	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:122501897-122502342	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:122520761-122521335	K562	blood:	n/a	n/a
4	ARID3A	chr12:122510629-122510821	K562	blood:	n/a	n/a
5	ARID3A	chr12:122607971-122607992	K562	blood:	n/a	n/a
6	ARID3A	chr12:122598886-122598891	K562	blood:	n/a	n/a
7	ARID3A	chr12:122516110-122516190	K562	blood:	n/a	n/a
8	ARID3A	chr12:122501831-122502243	K562	blood:	n/a	n/a
9	ARID3A	chr12:122596682-122596996	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:122501027-122501156	HepG2	liver:	n/a	n/a
11	ARID3A	chr12:122582184-122582975	K562	blood:	n/a	n/a
12	ATF1	chr12:122501866-122502303	K562	blood:	n/a	n/a
13	ATF1	chr12:122520749-122521244	K562	blood:	n/a	n/a
14	ATF1	chr12:122582439-122583099	K562	blood:	n/a	n/a
15	ATF1	chr12:122602609-122602796	K562	blood:	n/a	n/a
16	ATF1	chr12:122516354-122516762	K562	blood:	n/a	n/a
17	ATF2	chr12:122516359-122516643	GM12878	blood:	n/a	n/a
18	ATF2	chr12:122492204-122492525	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr12:122516215-122516651	GM12878	blood:	n/a	n/a
20	ATF2	chr12:122501852-122502410	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr12:122519551-122520111	GM12878	blood:	n/a	n/a
22	ATF2	chr12:122520885-122521307	GM12878	blood:	n/a	n/a
23	ATF3	chr12:122487709-122488040	K562	blood:	n/a	n/a
24	ATF3	chr12:122478362-122479111	A549	lung:	n/a	n/a
25	ATF3	chr12:122510311-122510950	A549	lung:	n/a	n/a
26	ATF3	chr12:122502105-122502265	GM12878	blood:	n/a	n/a
27	ATF3	chr12:122501974-122502417	K562	blood:	n/a	n/a
28	ATF3	chr12:122501909-122502326	GM12878	blood:	n/a	n/a
29	ATF3	chr12:122478400-122478924	A549	lung:	n/a	n/a
30	ATF3	chr12:122501985-122502356	K562	blood:	n/a	n/a
31	ATF3	chr12:122517299-122518036	A549	lung:	n/a	chr12:122517771-122517780
32	ATF3	chr12:122503179-122503572	K562	blood:	n/a	n/a
33	ATF3	chr12:122582278-122582784	K562	blood:	n/a	n/a
34	BACH1	chr12:122517063-122517087	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr12:122516197-122516477	K562	blood:	n/a	n/a
36	BACH1	chr12:122615627-122615759	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr12:122516044-122516698	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr12:122492543-122492581	K562	blood:	n/a	n/a
39	BACH1	chr12:122582491-122582528	K562	blood:	n/a	n/a
40	BACH1	chr12:122621760-122621892	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr12:122518253-122518445	K562	blood:	n/a	n/a
42	BATF	chr12:122519079-122519431	GM12878	blood:	n/a	chr12:122519206-122519215
43	BATF	chr12:122514791-122515168	GM12878	blood:	n/a	n/a
44	BATF	chr12:122518359-122518650	GM12878	blood:	n/a	n/a
45	BCL3	chr12:122582316-122583018	A549	lung:	n/a	chr12:122582633-122582640 chr12:122582979-122582988
46	BCL3	chr12:122478366-122478917	A549	lung:	n/a	n/a
47	BCL3	chr12:122510280-122511045	A549	lung:	n/a	n/a
48	BCL3	chr12:122630152-122630544	K562	blood:	n/a	chr12:122630472-122630485
49	BCL3	chr12:122500736-122501538	A549	lung:	n/a	n/a
50	BCL3	chr12:122607559-122608420	A549	lung:	n/a	chr12:122608207-122608220 chr12:122607831-122607844

(count:1960 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122492779-122492829	BE2_C	brain:	n/a
2	chr12:122517184-122517234	PFSK-1	brain:	n/a
3	chr12:122517149-122517199	AG09309	skin:	n/a
4	chr12:122611918-122611968	SK-N-MC	brain:	n/a
5	chr12:122492779-122492829	ovcar-3	ovarian:	n/a
6	chr12:122488854-122488904	NT2-D1	testis:	n/a
7	chr12:122517184-122517234	MCF-7	breast:	n/a
8	chr12:122499348-122499398	NHDF-neo	bronchial:	n/a
9	chr12:122492779-122492829	BE2_C	brain:	n/a
10	chr12:122517184-122517234	PFSK-1	brain:	n/a
11	chr12:122517149-122517199	AG09309	skin:	n/a
12	chr12:122611918-122611968	SK-N-MC	brain:	n/a
13	chr12:122492779-122492829	ovcar-3	ovarian:	n/a
14	chr12:122488854-122488904	NT2-D1	testis:	n/a
15	chr12:122517184-122517234	MCF-7	breast:	n/a
16	chr12:122499348-122499398	NHDF-neo	bronchial:	n/a
17	chr12:122502170-122502220	CMK	blood:	n/a
18	chr12:122611783-122611833	HUVEC	blood vessel:	n/a
19	chr12:122611783-122611833	H1-hESC	embryonic stem cell:	embryo
20	chr12:122592277-122592327	PANC-1	pancreas:	n/a
21	chr12:122519951-122520001	MCF10A-Er-Src	breast:	n/a
22	chr12:122517184-122517234	NB4	blood:	n/a
23	chr12:122515332-122515382	PFSK-1	brain:	n/a
24	chr12:122617908-122617958	GM12878	blood:	n/a
25	chr12:122488854-122488904	SK-N-SH_RA	brain:	n/a
26	chr12:122614585-122614635	Hepatocyte	liver:	n/a
27	chr12:122618040-122618090	HRPEpiC	eye:	n/a
28	chr12:122492779-122492829	HEEpiC	esophagus:	n/a
29	chr12:122499638-122499688	HMEC	breast:	n/a
30	chr12:122519674-122519724	AG04449	skin:	fetal
31	chr12:122515332-122515382	CMK	blood:	n/a
32	chr12:122628115-122628165	SK-N-SH	brain:	n/a
33	chr12:122516220-122516270	SK-N-SH	brain:	n/a
34	chr12:122516220-122516270	PFSK-1	brain:	n/a
35	chr12:122517149-122517199	HAEpiC	amniotic membrane:	n/a
36	chr12:122516220-122516270	ProgFib	skin:	n/a
37	chr12:122517149-122517199	GM19239	blood:	n/a
38	chr12:122628115-122628165	HL-60	blood:	n/a
39	chr12:122488854-122488904	ProgFib	skin:	n/a
40	chr12:122611269-122611319	ProgFib	skin:	n/a
41	chr12:122492914-122492964	RPTEC	kidney:	n/a
42	chr12:122498111-122498161	U87	brain:	n/a
43	chr12:122498111-122498161	PFSK-1	brain:	n/a
44	chr12:122517184-122517234	GM19239	blood:	n/a
45	chr12:122499638-122499688	HCPEpiC	choroid plexus:	n/a
46	chr12:122518517-122518567	SK-N-MC	brain:	n/a
47	chr12:122489545-122489595	NHDF-neo	bronchial:	n/a
48	chr12:122492914-122492964	SKMC	muscle:	n/a
49	chr12:122519951-122520001	Caco-2	colon:	n/a
50	chr12:122497826-122497876	LNCaP	prostate:	n/a

(count:250 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr12:122614209..122616378-chr12:122622721..122625197,2	MCF-7	breast:
2	chr12:122487474..122489659-chr12:122490996..122492915,2	MCF-7	breast:
3	chr12:122515765..122517447-chr12:122610871..122613524,2	MCF-7	breast:
4	chr12:122617007..122620104-chr12:122620256..122623523,4	MCF-7	breast:
5	chr12:122491108..122493990-chr12:122605278..122608052,2	K562	blood:
6	chr12:122623410..122625195-chr12:122629931..122632295,2	K562	blood:
7	chr12:122618310..122620095-chr12:122620821..122622381,2	MCF-7	breast:
8	chr12:122491907..122493455-chr12:122607305..122608643,21	MCF-7	breast:
9	chr12:122627308..122628823-chr12:122630671..122632558,2	MCF-7	breast:
10	chr12:122516422..122518612-chr12:122611562..122613358,2	MCF-7	breast:
11	chr12:122584343..122586500-chr12:122592912..122594836,2	K562	blood:
12	chr12:122472899..122475039-chr12:122517716..122519220,2	MCF-7	breast:
13	chr12:120730738..120731324-chr12:122516279..122516830,2	HCT-116	colon:
14	chr12:122584007..122585799-chr12:122606891..122609136,2	K562	blood:
15	chr12:122597480..122599140-chr12:122601411..122603902,2	K562	blood:
16	chr12:122516647..122521114-chr12:122579806..122584006,9	K562	blood:
17	chr12:122503010..122504753-chr12:122599656..122601738,3	K562	blood:
18	chr12:122237524..122241320-chr12:122500575..122503777,5	K562	blood:
19	chr12:122487767..122490399-chr12:122506061..122507561,2	K562	blood:
20	chr12:122516801..122519541-chr12:122589557..122592408,2	MCF-7	breast:
21	chr12:122501303..122502101-chr12:122615197..122616147,3	K562	blood:
22	chr12:122492019..122492888-chr12:122608485..122609005,2	MCF-7	breast:
23	chr12:122459153..122460858-chr12:122581849..122584352,2	MCF-7	breast:
24	chr12:122502788..122505256-chr12:122580123..122582296,2	K562	blood:
25	chr12:122595198..122597240-chr12:122599458..122602130,3	MCF-7	breast:
26	chr12:122469231..122471324-chr12:122480091..122482011,2	MCF-7	breast:
27	chr12:122237535..122239175-chr12:122615954..122617703,2	MCF-7	breast:
28	chr12:122491384..122494042-chr12:122494209..122496970,2	MCF-7	breast:
29	chr12:122516499..122517044-chr6:106773024..106773882,2	Hela-S3	cervix:
30	chr12:122525754..122530749-chr12:122579886..122583697,5	MCF-7	breast:
31	chr12:122501860..122503717-chr12:122523977..122528011,3	K562	blood:
32	chr12:122528940..122531335-chr12:122584948..122586982,2	K562	blood:
33	chr12:122492379..122495152-chr12:122604029..122610434,5	MCF-7	breast:
34	chr12:122496582..122498514-chr12:122515494..122517625,2	MCF-7	breast:
35	chr12:122515684..122518193-chr12:122579719..122583506,5	K562	blood:
36	chr12:122502526..122503071-chr19:679775..680751,2	Hela-S3	cervix:
37	chr12:122232866..122235205-chr12:122514967..122518209,3	K562	blood:
38	chr12:122516422..122518612-chr12:122611562..122613358,2	MCF-7	breast:
39	chr12:122459785..122461389-chr12:122480807..122483366,2	MCF-7	breast:
40	chr12:122487474..122489659-chr12:122490996..122492915,2	MCF-7	breast:
41	chr12:122501782..122503446-chr12:122595953..122597986,2	K562	blood:
42	chr12:122458731..122461524-chr12:122478582..122481514,2	MCF-7	breast:
43	chr12:122472104..122474450-chr12:122476458..122479458,3	K562	blood:
44	chr12:122508765..122512478-chr12:122512522..122516495,6	MCF-7	breast:
45	chr12:122524828..122528659-chr12:122528989..122531257,4	K562	blood:
46	chr12:122468573..122470930-chr12:122610442..122612182,2	MCF-7	breast:
47	chr12:122491927..122492922-chr12:122675234..122675854,3	MCF-7	breast:
48	chr12:122593313..122595927-chr12:122601450..122604271,2	K562	blood:
49	chr12:122625217..122627565-chr12:122689835..122692014,2	K562	blood:
50	chr12:122500379..122501481-chr12:122515896..122516602,3	MCF-7	breast:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MLXIP-1	chr12:122513147-122515640	NONHSAT031490
2	lnc-BCL7A-1	chr12:122505934-122506097	ENSG00000256546
3	lnc-BCL7A-1	chr12:122502456-122502564	ENSG00000256546
4	lnc-BCL7A-1	chr12:122501255-122501437	ENSG00000256546
5	lnc-BCL7A-1	chr12:122505934-122506097	NONHSAT031487
6	lnc-BCL7A-1	chr12:122505932-122506097	ENSG00000256546
7	lnc-BCL7A-1	chr12:122501212-122501437	ENSG00000256546
8	lnc-MLXIP-1	chr12:122512858-122514686	ENSG00000251645
9	lnc-BCL7A-1	chr12:122506195-122506527	NONHSAT031487
10	lnc-MLXIP-1	chr12:122510024-122511063	ENSG00000251645
11	lnc-BCL7A-1	chr12:122503162-122503728	ENSG00000256546
12	lnc-BCL7A-1	chr12:122506195-122506522	ENSG00000256546
13	lnc-BCL7A-1	chr12:122502456-122502590	NONHSAT031487
14	lnc-BCL7A-1	chr12:122506195-122506464	ENSG00000256546
15	lnc-BCL7A-1	chr12:122502456-122502588	ENSG00000256546
16	lnc-BCL7A-1	chr12:122502045-122502339	ENSG00000256546
17	lnc-BCL7A-1	chr12:122502263-122502588	ENSG00000256546

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	BCL7A	hsa-miR-29a-3p	chr12:122498034-122498040
2	MLXIP	hsa-miR-98-5p	chr12:122628348-122628372
3	MLXIP	hsa-miR-98-5p	chr12:122628365-122628371
4	BCL7A	hsa-miR-24-3p	chr12:122498176-122498198
5	BCL7A	hsa-let-7b-5p	chr12:122498768-122498774
6	MLXIP	hsa-miR-20a-5p	chr12:122627641-122627663

Variant related genes	Relation type
MLXIP	TF binding region
ENSG00000256546	TF binding region
MLXIP	CpG island
ENSG00000256546	CpG island
ENSG00000184260	chromatin interactions
ENSG00000123213	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000255856	chromatin interactions
ENSG00000057663	chromatin interactions
ENSG00000175727	chromatin interactions
ENSG00000110987	chromatin interactions
ENSG00000070404	chromatin interactions
ENSG00000159596	chromatin interactions
ENSG00000176383	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000256546	chromatin interactions
ENSG00000197860	chromatin interactions
ENSG00000110801	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000256950	chromatin interactions
ENSG00000158023	chromatin interactions
PAFAH1B2	miRNA target sites
ABL1	miRNA target sites

Extended variants
information (count: 3979 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:3979 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7316212	chr12:122478728-122478729	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10840643	chr12:122478854-122478855	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34653663	chr12:122478855-122478856	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10840644	chr12:122478860-122478861	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565934151	chr12:122478861-122478862	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs80135677	chr12:122478862-122478863	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs77066933	chr12:122478863-122478864	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563856568	chr12:122478867-122478868	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77405015	chr12:122478870-122478871	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548745102	chr12:122478875-122478876	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557955378	chr12:122478929-122478930	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576163834	chr12:122478995-122478996	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376654976	chr12:122479015-122479016	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190893361	chr12:122479019-122479020	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555820646	chr12:122479022-122479023	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143846431	chr12:122479052-122479053	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs146308024	chr12:122479063-122479064	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77201221	chr12:122479076-122479077	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577879227	chr12:122479104-122479105	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368765197	chr12:122479105-122479106	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563858629	chr12:122479121-122479122	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531119610	chr12:122479145-122479146	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549353739	chr12:122479199-122479200	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370415470	chr12:122479245-122479246	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138955169	chr12:122479303-122479304	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs78296744	chr12:122479308-122479309	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183162663	chr12:122479395-122479396	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs142865757	chr12:122479443-122479444	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12818403	chr12:122479472-122479473	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs71082934	chr12:122479507-122479508	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs398021412	chr12:122479512-122479513	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12814134	chr12:122479528-122479529	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12818571	chr12:122479529-122479530	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188047122	chr12:122479554-122479555	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs193014924	chr12:122479574-122479575	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569890697	chr12:122479683-122479684	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537245487	chr12:122479684-122479685	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555274342	chr12:122479690-122479691	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376130103	chr12:122479691-122479692	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144565162	chr12:122479694-122479695	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534806328	chr12:122479703-122479704	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552923076	chr12:122479777-122479778	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571125114	chr12:122479803-122479804	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs377252137	chr12:122479869-122479870	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577525728	chr12:122479898-122479899	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs185151479	chr12:122479930-122479931	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557625838	chr12:122479937-122479938	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536879207	chr12:122479938-122479939	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7976716	chr12:122479987-122479988	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543160944	chr12:122480029-122480030	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5505 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122461600-122492400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:122462000-122492400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:122462200-122489000	Weak transcription	HUVEC	blood vessel
4	chr12:122462400-122481800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:122462400-122489000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:122462400-122490400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:122462400-122492200	Weak transcription	Stomach Mucosa	stomach
8	chr12:122462400-122500000	Weak transcription	Hela-S3	cervix
9	chr12:122466200-122500800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:122466400-122489000	Weak transcription	NHLF	lung
11	chr12:122466800-122490200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:122467000-122480600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:122467800-122488800	Weak transcription	Right Atrium	heart
14	chr12:122467800-122500000	Strong transcription	Thymus	Thymus
15	chr12:122467800-122500200	Strong transcription	Dnd41	blood
16	chr12:122468000-122489200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:122468200-122492800	Weak transcription	NHDF-Ad	bronchial
18	chr12:122468400-122486000	Weak transcription	NH-A	brain
19	chr12:122468400-122489000	Strong transcription	Fetal Stomach	stomach
20	chr12:122468400-122489000	Weak transcription	Psoas Muscle	Psoas
21	chr12:122469800-122481800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:122470000-122482600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:122470000-122488800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:122470000-122492400	Strong transcription	Fetal Thymus	thymus
25	chr12:122470000-122492400	Weak transcription	K562	blood
26	chr12:122470600-122488800	Weak transcription	Fetal Heart	heart
27	chr12:122470600-122489800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:122471000-122483000	Weak transcription	GM12878-XiMat	blood
29	chr12:122471600-122481800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:122472000-122507200	Weak transcription	Fetal Brain Male	brain
31	chr12:122472400-122481800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:122472400-122484800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr12:122472400-122489600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:122472600-122481800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:122472600-122486000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:122472800-122479400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:122472800-122488800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr12:122472800-122488800	Strong transcription	Fetal Muscle Leg	muscle
39	chr12:122472800-122489600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:122473000-122488200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr12:122473000-122489600	Strong transcription	Fetal Brain Female	brain
42	chr12:122473200-122486400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:122473600-122479400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:122473600-122492800	Weak transcription	Esophagus	oesophagus
45	chr12:122473800-122484800	Strong transcription	NHEK	skin
46	chr12:122474000-122479000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:122474000-122496800	Weak transcription	HMEC	breast
48	chr12:122474200-122481600	Weak transcription	Right Ventricle	heart
49	chr12:122474400-122479000	Weak transcription	Gastric	stomach
50	chr12:122474400-122481400	Weak transcription	Muscle Satellite Cultured Cells	--

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