Variant report

Variant	esv2761751
Chromosome Location	chr12:76882528-77029086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2096)
CpG islands
(count:1343)
Chromatin interactive
region (count:134)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2096 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:76923079-76923278	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:76927809-76927924	K562	blood:	n/a	n/a
3	ARID3A	chr12:76980637-76980917	K562	blood:	n/a	n/a
4	ARID3A	chr12:76945106-76945602	K562	blood:	n/a	n/a
5	ARID3A	chr12:76953399-76953451	K562	blood:	n/a	n/a
6	ARID3A	chr12:77015301-77015620	K562	blood:	n/a	n/a
7	ARID3A	chr12:77015282-77015928	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:76953361-76953956	HepG2	liver:	n/a	n/a
9	ARID3A	chr12:76932312-76932349	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:76924400-76924684	K562	blood:	n/a	n/a
11	ARID3A	chr12:77027017-77027698	K562	blood:	n/a	n/a
12	ARID3A	chr12:76938701-76939060	K562	blood:	n/a	n/a
13	ARID3A	chr12:76952237-76952445	K562	blood:	n/a	n/a
14	ARID3A	chr12:76933271-76934127	K562	blood:	n/a	n/a
15	ARID3A	chr12:76941773-76941944	K562	blood:	n/a	n/a
16	ARID3A	chr12:76931808-76932037	HepG2	liver:	n/a	n/a
17	ARID3A	chr12:76949050-76949880	K562	blood:	n/a	n/a
18	ARID3A	chr12:77022593-77022807	K562	blood:	n/a	n/a
19	ATF1	chr12:77005487-77005738	K562	blood:	n/a	n/a
20	ATF1	chr12:77022592-77022824	K562	blood:	n/a	n/a
21	ATF1	chr12:76980624-76980789	K562	blood:	n/a	n/a
22	ATF1	chr12:76952601-76953927	K562	blood:	n/a	n/a
23	ATF1	chr12:76945186-76945648	K562	blood:	n/a	n/a
24	ATF1	chr12:77007036-77007153	K562	blood:	n/a	n/a
25	ATF1	chr12:76942273-76942383	K562	blood:	n/a	n/a
26	ATF2	chr12:76913259-76913633	GM12878	blood:	n/a	n/a
27	ATF2	chr12:76953184-76953887	GM12878	blood:	n/a	n/a
28	ATF3	chr12:76953167-76953749	HepG2	liver:	n/a	chr12:76953605-76953614 chr12:76953647-76953656
29	ATF3	chr12:76953290-76953867	H1-hESC	embryonic stem cell:	n/a	chr12:76953605-76953614 chr12:76953647-76953656
30	ATF3	chr12:76953218-76953821	K562	blood:	n/a	chr12:76953605-76953614 chr12:76953647-76953656
31	ATF3	chr12:76953395-76953792	GM12878	blood:	n/a	chr12:76953605-76953614 chr12:76953647-76953656
32	ATF3	chr12:76953315-76953964	GM12878	blood:	n/a	chr12:76953605-76953614 chr12:76953647-76953656
33	ATF3	chr12:76953318-76953779	H1-hESC	embryonic stem cell:	n/a	chr12:76953605-76953614 chr12:76953647-76953656
34	BACH1	chr12:77015489-77015676	K562	blood:	n/a	n/a
35	BACH1	chr12:76953687-76953838	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr12:77005489-77005681	K562	blood:	n/a	n/a
37	BATF	chr12:77024751-77024903	GM12878	blood:	n/a	n/a
38	BATF	chr12:77024711-77024929	GM12878	blood:	n/a	n/a
39	BCL3	chr12:76953277-76953798	GM12878	blood:	n/a	chr12:76953338-76953351 chr12:76953345-76953354 chr12:76953451-76953464 chr12:76953337-76953350
40	BCL3	chr12:76953304-76954001	A549	lung:	n/a	chr12:76953338-76953351 chr12:76953345-76953354 chr12:76953451-76953464 chr12:76953337-76953350
41	BCLAF1	chr12:76953179-76954029	K562	blood:	n/a	chr12:76953338-76953351 chr12:76953345-76953354 chr12:76953451-76953464 chr12:76953337-76953350
42	BCLAF1	chr12:76953235-76954044	GM12878	blood:	n/a	chr12:76953338-76953351 chr12:76953345-76953354 chr12:76953451-76953464 chr12:76953337-76953350
43	BCLAF1	chr12:76953195-76954082	GM12878	blood:	n/a	chr12:76953338-76953351 chr12:76953345-76953354 chr12:76953451-76953464 chr12:76953337-76953350
44	BHLHE40	chr12:76953530-76953811	A549	lung:	n/a	chr12:76953647-76953656 chr12:76953646-76953655 chr12:76953647-76953656 chr12:76953641-76953662 chr12:76953648-76953657 chr12:76953645-76953658
45	BHLHE40	chr12:77015316-77015765	K562	blood:	n/a	n/a
46	BHLHE40	chr12:77011883-77012140	GM12878	blood:	n/a	n/a
47	BHLHE40	chr12:76933631-76933886	K562	blood:	n/a	n/a
48	BHLHE40	chr12:76926487-76926601	K562	blood:	n/a	chr12:76926571-76926584 chr12:76926567-76926588
49	BHLHE40	chr12:76952772-76953970	HepG2	liver:	n/a	chr12:76953647-76953656 chr12:76953646-76953655 chr12:76953647-76953656 chr12:76953641-76953662 chr12:76953305-76953321 chr12:76953648-76953657 chr12:76953645-76953658
50	BHLHE40	chr12:77015361-77015685	HepG2	liver:	n/a	n/a

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:76953768-76953818	HepG2	liver:	n/a
2	chr12:76953768-76953818	HepG2	liver:	n/a
3	chr12:76953136-76953186	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:76953712-76953762	NHBE	bronchial:	n/a
5	chr12:76927207-76927257	HCT-116	colon:	n/a
6	chr12:76927207-76927257	AoSMC	blood vessel:	n/a
7	chr12:76892005-76892055	LNCaP	prostate:	n/a
8	chr12:76953768-76953818	PANC-1	pancreas:	n/a
9	chr12:76953818-76953868	NHDF-neo	bronchial:	n/a
10	chr12:76953818-76953868	RPTEC	kidney:	n/a
11	chr12:76952947-76952997	HCM	heart:	n/a
12	chr12:76892005-76892055	HCM	heart:	n/a
13	chr12:76896350-76896400	SAEC	small airway:	n/a
14	chr12:76953439-76953489	RPTEC	kidney:	n/a
15	chr12:76953136-76953186	HRPEpiC	eye:	n/a
16	chr12:76953768-76953818	MCF-7	breast:	n/a
17	chr12:76953795-76953845	HUVEC	blood vessel:	n/a
18	chr12:76900130-76900180	K562	blood:	n/a
19	chr12:76953768-76953818	GM19239	blood:	n/a
20	chr12:76896350-76896400	PFSK-1	brain:	n/a
21	chr12:76938908-76938958	HEK293	kidney:	embryo
22	chr12:77018107-77018157	SAEC	small airway:	n/a
23	chr12:76957699-76957749	AG09309	skin:	n/a
24	chr12:76953543-76953593	AG04449	skin:	fetal
25	chr12:76938908-76938958	U87	brain:	n/a
26	chr12:76953439-76953489	NHDF-neo	bronchial:	n/a
27	chr12:77026162-77026212	SK-N-SH	brain:	n/a
28	chr12:76927207-76927257	SK-N-MC	brain:	n/a
29	chr12:77026162-77026212	T-47D	breast:	n/a
30	chr12:77026162-77026212	MCF-7	breast:	n/a
31	chr12:76892005-76892055	U87	brain:	n/a
32	chr12:76952947-76952997	PFSK-1	brain:	n/a
33	chr12:76952518-76952568	IMR90	lung:	fetal
34	chr12:77026162-77026212	AoSMC	blood vessel:	n/a
35	chr12:76927207-76927257	ovcar-3	ovarian:	n/a
36	chr12:76953736-76953786	T-47D	breast:	n/a
37	chr12:76892005-76892055	HIPEpiC	eye:	n/a
38	chr12:76953818-76953868	GM06990	blood:	n/a
39	chr12:76953543-76953593	HCF	heart:	n/a
40	chr12:76953543-76953593	T-47D	breast:	n/a
41	chr12:76957699-76957749	HepG2	liver:	n/a
42	chr12:76953736-76953786	U87	brain:	n/a
43	chr12:76892005-76892055	HRPEpiC	eye:	n/a
44	chr12:76953736-76953786	SK-N-SH_RA	brain:	n/a
45	chr12:76953697-76953747	BJ	skin:	n/a
46	chr12:76892005-76892055	ovcar-3	ovarian:	n/a
47	chr12:76938908-76938958	BJ	skin:	n/a
48	chr12:76892005-76892055	HNPCEpiC	eye:	n/a
49	chr12:76938908-76938958	AG04449	skin:	fetal
50	chr12:76953439-76953489	HCPEpiC	choroid plexus:	n/a

(count:134 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:76981739..76985020-chr12:76985135..76987981,3	K562	blood:
2	chr12:76953591..76955393-chr12:77062662..77064443,2	K562	blood:
3	chr12:77005732..77008425-chr12:77156352..77158338,2	MCF-7	breast:
4	chr12:76951670..76952579-chr18:35832119..35832815,2	MCF-7	breast:
5	chr12:76956983..76959619-chr16:4322198..4324334,2	MCF-7	breast:
6	chr12:77014996..77015524-chr12:77271966..77272891,2	K562	blood:
7	chr12:76880382..76882801-chr12:76947925..76950467,2	K562	blood:
8	chr12:76880382..76882801-chr12:76947925..76950467,2	K562	blood:
9	chr12:76928324..76932170-chr12:76950988..76955131,5	K562	blood:
10	chr12:76434968..76436979-chr12:76982288..76984196,2	K562	blood:
11	chr12:77014938..77015985-chr12:77320727..77321602,4	K562	blood:
12	chr12:76892163..76895112-chr12:76910180..76911744,2	K562	blood:
13	chr12:76941641..76944245-chr12:76951726..76953634,3	MCF-7	breast:
14	chr12:76936117..76939904-chr12:76951182..76955787,6	K562	blood:
15	chr12:77026505..77028427-chr12:77156168..77157778,2	K562	blood:
16	chr12:65512947..65513730-chr12:76896338..76897020,2	MCF-7	breast:
17	chr12:77005448..77007443-chr12:77011199..77013422,2	K562	blood:
18	chr12:76475143..76477108-chr12:76987263..76989553,2	MCF-7	breast:
19	chr12:77015003..77016243-chr12:77184465..77185326,7	K562	blood:
20	chr12:77020587..77022701-chr12:77028714..77031179,2	K562	blood:
21	chr12:76880256..76882733-chr12:76886510..76888310,2	MCF-7	breast:
22	chr12:76952521..76954205-chr12:77027678..77030339,2	K562	blood:
23	chr12:76940266..76943191-chr12:76945143..76946714,2	MCF-7	breast:
24	chr12:76916162..76918584-chr12:76920370..76924557,3	K562	blood:
25	chr12:76921647..76923523-chr12:76949322..76951774,2	K562	blood:
26	chr12:77015034..77015930-chr12:77184370..77185598,6	MCF-7	breast:
27	chr12:76940266..76943191-chr12:76945143..76946714,2	MCF-7	breast:
28	chr1:1821842..1822516-chr12:76953148..76953973,2	Hela-S3	cervix:
29	chr12:76912518..76914455-chr12:76919703..76921282,2	K562	blood:
30	chr12:76953094..76955228-chr16:89777094..89779062,2	MCF-7	breast:
31	chr12:76953560..76954167-chr16:18812475..18813202,2	Hela-S3	cervix:
32	chr12:76953188..76954106-chr9:131709461..131710469,3	Hela-S3	cervix:
33	chr12:76933243..76934759-chr12:76952602..76955131,2	K562	blood:
34	chr12:76921647..76923523-chr12:76949322..76951774,2	K562	blood:
35	chr12:76880256..76882733-chr12:76886510..76888310,2	MCF-7	breast:
36	chr12:76917708..76921301-chr12:76951775..76954653,3	K562	blood:
37	chr12:76931049..76933696-chr12:76943791..76945539,2	K562	blood:
38	chr12:76938800..76940402-chr12:76946771..76948393,2	K562	blood:
39	chr12:76980274..76980778-chr12:77321094..77321644,2	K562	blood:
40	chr12:76945107..76946937-chr12:76947287..76950305,3	MCF-7	breast:
41	chr12:76818402..76820072-chr12:76928412..76931283,2	K562	blood:
42	chr12:76932007..76935251-chr12:76955283..76958802,3	K562	blood:
43	chr12:76981739..76985020-chr12:76985135..76987981,3	K562	blood:
44	chr12:77004858..77006919-chr12:77010016..77011637,2	MCF-7	breast:
45	chr12:76742028..76743554-chr12:76952032..76953673,2	K562	blood:
46	chr12:76942740..76944575-chr12:76946660..76948299,3	K562	blood:
47	chr12:76926982..76928547-chr12:76952557..76954773,2	MCF-7	breast:
48	chr12:76908805..76909683-chr12:76980368..76981193,4	MCF-7	breast:
49	chr12:76938902..76940756-chr12:76946771..76949294,2	K562	blood:
50	chr1:39456509..39457400-chr12:76953449..76954294,2	NB4	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSBPL8-2	chr12:76975160-76975220	NONHSAT029582
2	lnc-ZDHHC17-4	chr12:76956074-76956138	ENSG00000257526.1
3	lnc-ZDHHC17-12	chr12:76965097-76965597	NONHSAT029581
4	lnc-BBS10-5	chr12:76953177-76953308	NONHSAT029579
5	lnc-ZDHHC17-4	chr12:76964491-76964546	ENSG00000257526.1
6	lnc-ZDHHC17-4	chr12:77009083-77009211	ENSG00000257526.1
7	lnc-BBS10-5	chr12:76930784-76930821	NONHSAT029579
8	lnc-ZDHHC17-8	chr12:77013166-77013823	NONHSAT029585
9	lnc-OSBPL8-2	chr12:76975065-76975100	NONHSAT029582
10	lnc-ZDHHC17-11	chr12:76980509-76981127	NONHSAT029583
11	lnc-OSBPL8-2	chr12:76975618-76975729	NONHSAT029582
12	lnc-BBS10-5	chr12:76931737-76931766	NONHSAT029579

No data

Variant related genes	Relation type
OSBPL8	TF binding region
ENSG00000257526	TF binding region
ENSG00000213272	TF binding region
YWHAQP7	TF binding region
OSBPL8	CpG island
ENSG00000257526	CpG island
ENSG00000213272	CpG island
YWHAQP7	CpG island
ENSG00000111530	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000204290	chromatin interactions
ENSG00000075399	chromatin interactions
ENSG00000186908	chromatin interactions
ENSG00000271142	chromatin interactions
ENSG00000257526	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000259438	chromatin interactions
ENSG00000175283	chromatin interactions
ENSG00000162714	chromatin interactions
ENSG00000163694	chromatin interactions
ENSG00000090447	chromatin interactions
ENSG00000141456	chromatin interactions
ENSG00000069956	chromatin interactions
ENSG00000266947	chromatin interactions
ENSG00000257453	chromatin interactions
ENSG00000244184	chromatin interactions
ENSG00000179941	chromatin interactions
ENSG00000111615	chromatin interactions
ENSG00000139289	chromatin interactions
ENSG00000272763	chromatin interactions
ENSG00000174574	chromatin interactions
ENSG00000078369	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000091039	chromatin interactions
ENSG00000095319	chromatin interactions
ENSG00000166750	chromatin interactions
ENSG00000257910	chromatin interactions
ENSG00000261373	chromatin interactions
ENSG00000175183	chromatin interactions
ENSG00000105771	chromatin interactions

Extended variants
information (count: 4951 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:4951 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138781933	chr12:76882537-76882538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140341142	chr12:76882540-76882541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11831326	chr12:76882655-76882656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145486655	chr12:76882695-76882696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs137927050	chr12:76882712-76882713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570002920	chr12:76882720-76882721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535402184	chr12:76882735-76882736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77091169	chr12:76882740-76882741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565742730	chr12:76882799-76882800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61925517	chr12:76882832-76882833	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185379344	chr12:76882838-76882839	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557471775	chr12:76882846-76882847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544453290	chr12:76882848-76882849	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188326306	chr12:76882852-76882853	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142273527	chr12:76882918-76882919	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543044151	chr12:76882924-76882925	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556552724	chr12:76882933-76882934	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574792568	chr12:76883040-76883041	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115718318	chr12:76883050-76883051	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374339205	chr12:76883069-76883070	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542955121	chr12:76883114-76883115	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559955364	chr12:76883138-76883139	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141689472	chr12:76883151-76883152	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529606790	chr12:76883157-76883158	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543778886	chr12:76883232-76883233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180800318	chr12:76883264-76883265	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556389659	chr12:76883306-76883307	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565404140	chr12:76883324-76883325	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577639247	chr12:76883354-76883355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531009535	chr12:76883355-76883356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551062294	chr12:76883360-76883361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150080022	chr12:76883370-76883371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530058901	chr12:76883452-76883453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543255665	chr12:76883469-76883470	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549019058	chr12:76883496-76883497	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368608426	chr12:76883503-76883504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563569075	chr12:76883504-76883505	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77711988	chr12:76883510-76883511	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372258517	chr12:76883514-76883515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557508718	chr12:76883578-76883579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539983764	chr12:76883579-76883580	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571045886	chr12:76883628-76883629	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536771479	chr12:76883632-76883633	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201399733	chr12:76883720-76883721	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138382254	chr12:76883725-76883726	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186284180	chr12:76883746-76883747	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149629764	chr12:76883756-76883757	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192094776	chr12:76883809-76883810	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181814254	chr12:76883810-76883811	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144384535	chr12:76883815-76883816	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Colorectal cancer	16272173	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
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:2540 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76844800-76884000	Weak transcription	Fetal Thymus	thymus
2	chr12:76863400-76884000	Weak transcription	Lung	lung
3	chr12:76864200-76883600	Weak transcription	Aorta	Aorta
4	chr12:76864200-76884000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:76864200-76884000	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:76864200-76884000	Weak transcription	Psoas Muscle	Psoas
7	chr12:76864400-76884600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:76864400-76886200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:76864400-76886200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:76864600-76886600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:76864600-76889400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:76865000-76886000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:76865000-76886600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:76865200-76884400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:76865200-76891200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:76865200-76912000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:76865400-76909200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:76865600-76883800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:76865600-76889400	Weak transcription	NHEK	skin
20	chr12:76865800-76883000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:76865800-76883800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:76865800-76884000	Weak transcription	HSMM	muscle
23	chr12:76865800-76886800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:76866000-76883800	Weak transcription	Osteobl	bone
25	chr12:76866200-76883400	Weak transcription	Primary T cells from cord blood	blood
26	chr12:76866800-76885000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:76867400-76883800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:76869000-76884600	Weak transcription	Esophagus	oesophagus
29	chr12:76869600-76884000	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:76869800-76884000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:76869800-76884200	Weak transcription	Left Ventricle	heart
32	chr12:76869800-76884400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:76869800-76884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:76869800-76895400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:76869800-76897800	Weak transcription	Fetal Heart	heart
36	chr12:76871000-76945400	Weak transcription	Gastric	stomach
37	chr12:76871200-76884000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:76871400-76883000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:76871400-76884200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:76871400-76884600	Weak transcription	GM12878-XiMat	blood
41	chr12:76871800-76883600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:76873000-76886600	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:76873200-76884000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:76875200-76884000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr12:76875200-76884600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:76875200-76886200	Weak transcription	Small Intestine	intestine
47	chr12:76875200-76886800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:76875200-76922400	Weak transcription	K562	blood
49	chr12:76875400-76883600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:76875400-76884600	Weak transcription	Adipose Nuclei	Adipose

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