Variant report

Variant	nsv898923
Chromosome Location	chr12:25357680-25397282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:546)
CpG islands
(count:366)
Chromatin interactive
region (count:64)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:38)

(count:546 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:25394206-25394468	K562	blood:	n/a	n/a
2	ARID3A	chr12:25363909-25364167	K562	blood:	n/a	n/a
3	ARID3A	chr12:25361561-25361843	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:25394146-25394461	HepG2	liver:	n/a	chr12:25394188-25394204
5	ARID3A	chr12:25363934-25364141	HepG2	liver:	n/a	n/a
6	BRCA1	chr12:25394204-25394433	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr12:25394636-25394882	A549	lung:	n/a	n/a
8	CEBPB	chr12:25381626-25381688	K562	blood:	n/a	chr12:25381648-25381659
9	CEBPB	chr12:25358961-25359321	IMR90	lung:	n/a	n/a
10	CEBPB	chr12:25359075-25359167	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr12:25360879-25361093	K562	blood:	n/a	chr12:25360975-25360986
12	CEBPB	chr12:25365194-25365409	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr12:25381582-25381677	H1-hESC	embryonic stem cell:	n/a	chr12:25381648-25381659
14	CEBPB	chr12:25360891-25361046	Hela-S3	cervix:	n/a	chr12:25360975-25360986
15	CEBPB	chr12:25381491-25381790	IMR90	lung:	n/a	chr12:25381648-25381659
16	CEBPB	chr12:25381505-25381836	A549	lung:	n/a	chr12:25381648-25381659
17	CEBPB	chr12:25361590-25361788	HepG2	liver:	n/a	n/a
18	CEBPB	chr12:25395446-25395657	A549	lung:	n/a	n/a
19	CEBPB	chr12:25360851-25361158	A549	lung:	n/a	chr12:25360975-25360986
20	CEBPB	chr12:25381498-25381791	HepG2	liver:	n/a	chr12:25381648-25381659
21	CEBPB	chr12:25394641-25394890	IMR90	lung:	n/a	n/a
22	CEBPB	chr12:25360820-25361146	HepG2	liver:	n/a	chr12:25360975-25360986
23	CEBPB	chr12:25381627-25381731	Hela-S3	cervix:	n/a	chr12:25381648-25381659
24	CTCF	chr12:25363920-25364070	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr12:25363920-25364070	HVMF	connective:	n/a	n/a
26	CTCF	chr12:25394160-25394310	BE2_C	brain:	n/a	n/a
27	CTCF	chr12:25394220-25394370	HFF	foreskin:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
28	CTCF	chr12:25363940-25364090	AG09319	gingival:	n/a	n/a
29	CTCF	chr12:25394166-25394438	Medullo	brain:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
30	CTCF	chr12:25394220-25394370	GM12870	blood:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
31	CTCF	chr12:25363920-25364070	BJ	skin:	n/a	n/a
32	CTCF	chr12:25394220-25394370	HA-sp	spinal cord:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
33	CTCF	chr12:25394220-25394370	AG04449	skin:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
34	CTCF	chr12:25363940-25364090	HCM	heart:	n/a	n/a
35	CTCF	chr12:25394200-25394350	AG09319	gingival:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
36	CTCF	chr12:25394220-25394370	K562	blood:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
37	CTCF	chr12:25363960-25364110	Caco-2	colon:	n/a	n/a
38	CTCF	chr12:25363896-25364200	HepG2	liver:	n/a	n/a
39	CTCF	chr12:25393935-25394015	GM19240	blood:	n/a	n/a
40	CTCF	chr12:25394260-25394410	WERI-Rb-1	eye:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
41	CTCF	chr12:25394200-25394350	HCT-116	colon:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
42	CTCF	chr12:25363900-25364050	BJ	skin:	n/a	n/a
43	CTCF	chr12:25363965-25364128	Lung_OC	lung:	n/a	n/a
44	CTCF	chr12:25363915-25364140	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr12:25394220-25394370	AG09309	skin:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
46	CTCF	chr12:25394380-25394530	GM12871	blood:	n/a	n/a
47	CTCF	chr12:25394280-25394430	NHDF-neo	bronchial:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
48	CTCF	chr12:25363940-25364090	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr12:25363980-25364130	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr12:25393900-25394050	AG10803	skin:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:25359932-25359982	HepG2	liver:	n/a
2	chr12:25359932-25359982	SK-N-MC	brain:	n/a
3	chr12:25394244-25394294	AG10803	skin:	n/a
4	chr12:25361667-25361717	MCF-7	breast:	n/a
5	chr12:25389111-25389161	NH-A	brain:	n/a
6	chr12:25389111-25389161	BJ	skin:	n/a
7	chr12:25367653-25367703	AG09309	skin:	n/a
8	chr12:25367653-25367703	HRPEpiC	eye:	n/a
9	chr12:25361667-25361717	HEEpiC	esophagus:	n/a
10	chr12:25380489-25380539	NB4	blood:	n/a
11	chr12:25380489-25380539	U87	brain:	n/a
12	chr12:25361667-25361717	RPTEC	kidney:	n/a
13	chr12:25361667-25361717	NH-A	brain:	n/a
14	chr12:25359932-25359982	U87	brain:	n/a
15	chr12:25380489-25380539	HCPEpiC	choroid plexus:	n/a
16	chr12:25380489-25380539	AG04449	skin:	fetal
17	chr12:25389111-25389161	HPAEpiC	pulmonary alveolar:	n/a
18	chr12:25367653-25367703	HCT-116	colon:	n/a
19	chr12:25361667-25361717	AG04449	skin:	fetal
20	chr12:25389111-25389161	ProgFib	skin:	n/a
21	chr12:25359932-25359982	ovcar-3	ovarian:	n/a
22	chr12:25380489-25380539	RPTEC	kidney:	n/a
23	chr12:25359932-25359982	Hela-S3	cervix:	n/a
24	chr12:25367653-25367703	ECC-1	luminal epithelium:	n/a
25	chr12:25361667-25361717	BE2_C	brain:	n/a
26	chr12:25361667-25361717	CMK	blood:	n/a
27	chr12:25389111-25389161	BE2_C	brain:	n/a
28	chr12:25394244-25394294	PANC-1	pancreas:	n/a
29	chr12:25361667-25361717	HPAEpiC	pulmonary alveolar:	n/a
30	chr12:25359932-25359982	CMK	blood:	n/a
31	chr12:25359932-25359982	H1-hESC	embryonic stem cell:	embryo
32	chr12:25359932-25359982	LNCaP	prostate:	n/a
33	chr12:25389111-25389161	HNPCEpiC	eye:	n/a
34	chr12:25389111-25389161	LNCaP	prostate:	n/a
35	chr12:25361667-25361717	HAEpiC	amniotic membrane:	n/a
36	chr12:25367653-25367703	HMEC	breast:	n/a
37	chr12:25380489-25380539	Caco-2	colon:	n/a
38	chr12:25359932-25359982	GM06990	blood:	n/a
39	chr12:25361667-25361717	NHBE	bronchial:	n/a
40	chr12:25389111-25389161	HRE	kidney:	n/a
41	chr12:25359932-25359982	BJ	skin:	n/a
42	chr12:25367653-25367703	Hepatocyte	liver:	n/a
43	chr12:25394244-25394294	NH-A	brain:	n/a
44	chr12:25389111-25389161	HCM	heart:	n/a
45	chr12:25367653-25367703	U87	brain:	n/a
46	chr12:25380489-25380539	HCT-116	colon:	n/a
47	chr12:25394244-25394294	T-47D	breast:	n/a
48	chr12:25394244-25394294	Caco-2	colon:	n/a
49	chr12:25380489-25380539	ECC-1	luminal epithelium:	n/a
50	chr12:25361667-25361717	ovcar-3	ovarian:	n/a

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:25395817..25398136-chr12:25402041..25404103,3	MCF-7	breast:
2	chr12:25393339..25393839-chr19:42788047..42788568,2	Hela-S3	cervix:
3	chr12:25346488..25348409-chr12:25363971..25365623,2	K562	blood:
4	chr12:25362035..25364781-chr12:25538838..25541339,3	K562	blood:
5	chr12:25387227..25389943-chr12:25538363..25541492,5	MCF-7	breast:
6	chr12:25351123..25353485-chr12:25360688..25362521,2	K562	blood:
7	chr12:25364173..25364926-chr12:25539956..25540643,2	MCF-7	breast:
8	chr12:25382080..25386117-chr12:25388802..25392255,4	MCF-7	breast:
9	chr12:25367414..25369461-chr12:25539857..25541737,2	K562	blood:
10	chr12:25381583..25383823-chr12:25538324..25540925,2	MCF-7	breast:
11	chr12:25356292..25358617-chr12:25386148..25388337,2	K562	blood:
12	chr12:25363141..25364781-chr12:25539309..25541339,2	K562	blood:
13	chr12:25363524..25364491-chr12:25539761..25541033,6	MCF-7	breast:
14	chr12:25393617..25394750-chr12:25539809..25541066,3	K562	blood:
15	chr12:25357761..25359956-chr12:25367991..25370766,2	K562	blood:
16	chr12:25359301..25361525-chr12:25535610..25537656,2	MCF-7	breast:
17	chr12:25308195..25309123-chr12:25363634..25364498,3	MCF-7	breast:
18	chr12:25391008..25395226-chr12:25537516..25540664,6	MCF-7	breast:
19	chr12:25359908..25361525-chr12:25537467..25540336,2	MCF-7	breast:
20	chr12:25365078..25366619-chr12:25369523..25372416,2	MCF-7	breast:
21	chr12:25350292..25353485-chr12:25360688..25363918,3	K562	blood:
22	chr12:25360345..25363187-chr12:25402530..25405370,3	MCF-7	breast:
23	chr12:25396573..25398478-chr12:25538159..25540026,2	MCF-7	breast:
24	chr12:25363589..25364537-chr12:25539516..25540655,6	K562	blood:
25	chr12:25357761..25359956-chr12:25367991..25370766,2	K562	blood:
26	chr12:25365341..25368190-chr12:25372186..25374038,3	K562	blood:
27	chr12:25392189..25396143-chr12:25537109..25540514,5	MCF-7	breast:
28	chr12:25369268..25371670-chr12:25372641..25374777,2	K562	blood:
29	chr12:25356292..25358617-chr12:25386148..25388337,2	K562	blood:
30	chr12:25346926..25348461-chr12:25395724..25397256,2	K562	blood:
31	chr12:25347765..25350303-chr12:25380801..25383112,2	K562	blood:
32	chr12:25347822..25349448-chr12:25393045..25395353,2	K562	blood:
33	chr12:25389042..25391439-chr12:25537346..25540580,3	K562	blood:
34	chr12:25383629..25385819-chr12:25387007..25389095,3	K562	blood:
35	chr12:25393086..25399970-chr12:25400304..25404361,8	MCF-7	breast:
36	chr12:25367183..25369335-chr12:25401740..25404657,2	K562	blood:
37	chr12:25390084..25393498-chr12:25395156..25398677,4	K562	blood:
38	chr12:25369268..25371670-chr12:25372641..25374777,2	K562	blood:
39	chr12:25382080..25386117-chr12:25388802..25392255,4	MCF-7	breast:
40	chr12:25393601..25395179-chr12:25539007..25540955,10	MCF-7	breast:
41	chr12:25390084..25392027-chr12:25396306..25398130,2	K562	blood:
42	chr12:25355467..25357313-chr12:25364708..25367209,2	MCF-7	breast:
43	chr12:25353810..25355602-chr12:25365715..25367870,2	MCF-7	breast:
44	chr12:25363402..25366108-chr12:25366322..25370146,4	K562	blood:
45	chr12:25389042..25390655-chr12:25537346..25539555,2	K562	blood:
46	chr12:25346979..25351038-chr12:25351626..25357714,8	K562	blood:
47	chr12:25387876..25389586-chr12:25395973..25398657,2	MCF-7	breast:
48	chr12:25365341..25368190-chr12:25372186..25374038,3	K562	blood:
49	chr12:25361412..25364076-chr12:25538514..25540823,3	MCF-7	breast:
50	chr12:25387876..25389586-chr12:25395973..25398657,2	MCF-7	breast:

No data

(count:38 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KRAS	hsa-miR-181a-5p	chr12:25362412-25362431
2	KRAS	hsa-miR-96-5p	chr12:25364045-25364039
3	KRAS	hsa-miR-181c-5p	chr12:25367741-25367734
4	KRAS	hsa-miR-143-3p	chr12:25359077-25359070
5	KRAS	hsa-miR-181a-5p	chr12:25363997-25363991
6	KRAS	hsa-miR-143-3p	chr12:25361123-25361143
7	KRAS	hsa-miR-181c-5p	chr12:25362216-25362209
8	KRAS	hsa-miR-193b-3p	chr12:25361775-25361769
9	KRAS	hsa-miR-193b-3p	chr12:25368071-25368065
10	KRAS	hsa-miR-193b-3p	chr12:25367300-25367294
11	KRAS	hsa-miR-217	chr12:25362454-25362448
12	KRAS	hsa-miR-217	chr12:25363918-25363912
13	KRAS	hsa-miR-181c-5p	chr12:25363997-25363991
14	KRAS	hsa-miR-193b-3p	chr12:25361769-25361790
15	KRAS	hsa-miR-143-3p	chr12:25364602-25364595
16	KRAS	hsa-miR-181a-5p	chr12:25358472-25358466
17	LYRM5	hsa-miR-16-5p	chr12:25357842-25357864
18	KRAS	hsa-miR-181a-5p	chr12:25362210-25362232
19	KRAS	hsa-miR-217	chr12:25358393-25358387
20	KRAS	hsa-miR-193b-3p	chr12:25362546-25362540
21	LYRM5	hsa-miR-16-5p	chr12:25357857-25357863
22	KRAS	hsa-miR-143-3p	chr12:25366654-25366647
23	KRAS	hsa-miR-217	chr12:25358387-25358409
24	KRAS	hsa-miR-181c-5p	chr12:25362412-25362431
25	KRAS	hsa-miR-143-3p	chr12:25361129-25361122
26	KRAS	hsa-miR-155-5p	chr12:25362644-25362638
27	LYRM5	hsa-miR-16-5p	chr12:25357860-25357867
28	KRAS	hsa-miR-96-5p	chr12:25358514-25358536
29	KRAS	hsa-miR-96-5p	chr12:25358520-25358514
30	KRAS	hsa-miR-217	chr12:25360871-25360893
31	KRAS	hsa-miR-181a-5p	chr12:25367741-25367734
32	KRAS	hsa-miR-181c-5p	chr12:25358472-25358466
33	KRAS	hsa-miR-217	chr12:25367979-25367973
34	KRAS	hsa-miR-143-3p	chr12:25359071-25359098
35	KRAS	hsa-miR-155-5p	chr12:25362638-25362660
36	KRAS	hsa-miR-155-5p	chr12:25368169-25368163
37	KRAS	hsa-miR-181a-5p	chr12:25362216-25362209
38	KRAS	hsa-miR-181c-5p	chr12:25362210-25362229

Variant related genes	Relation type
ENSG00000268076	TF binding region
ENSG00000268076	CpG island
ENSG00000205707	chromatin interactions
ENSG00000133703	chromatin interactions
ENSG00000079432	chromatin interactions
ENSG00000118307	chromatin interactions

Extended variants
information (count: 1423 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1423 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12321334	chr12:25357680-25357681	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371324761	chr12:25357724-25357725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532074738	chr12:25357760-25357761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1803874	chr12:25357766-25357767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562660293	chr12:25357771-25357772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374225757	chr12:25357808-25357809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537434193	chr12:25357816-25357817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550218792	chr12:25357861-25357862	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
9	rs571866003	chr12:25357862-25357863	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
10	rs1803873	chr12:25357869-25357870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192368726	chr12:25357893-25357894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528868149	chr12:25357920-25357921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529847927	chr12:25357921-25357922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545966010	chr12:25357926-25357927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112836371	chr12:25357931-25357932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566606995	chr12:25357944-25357945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61764375	chr12:25357947-25357948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377394864	chr12:25357950-25357951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11047892	chr12:25358033-25358034	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574249313	chr12:25358125-25358126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555583351	chr12:25358128-25358129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185554306	chr12:25358130-25358131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536562107	chr12:25358137-25358138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147708414	chr12:25358166-25358167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577486152	chr12:25358246-25358247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545014897	chr12:25358301-25358302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560096888	chr12:25358356-25358357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188034409	chr12:25358371-25358372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192263744	chr12:25358392-25358393	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
30	rs561395827	chr12:25358416-25358417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61764374	chr12:25358418-25358419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61764373	chr12:25358422-25358423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367923109	chr12:25358433-25358434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs14172	chr12:25358475-25358476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189426424	chr12:25358486-25358487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571987772	chr12:25358517-25358518	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
37	rs532841395	chr12:25358627-25358628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12245	chr12:25358650-25358651	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs566472595	chr12:25358654-25358655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57698689	chr12:25358663-25358664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560890523	chr12:25358664-25358665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12587	chr12:25358828-25358829	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs548814403	chr12:25358856-25358857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575836112	chr12:25358872-25358873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181569153	chr12:25358890-25358891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537665158	chr12:25358901-25358902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556288306	chr12:25358922-25358923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8720	chr12:25358943-25358944	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs184169974	chr12:25358955-25358956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1137196	chr12:25358969-25358970	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	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	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Endometrial cancer	19261849	CNVD
Gastric adenocarcinoma	22014070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25348600-25360000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:25348600-25402200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:25348600-25403200	Weak transcription	Spleen	Spleen
4	chr12:25348800-25359400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:25348800-25360200	Weak transcription	Esophagus	oesophagus
6	chr12:25349000-25360000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:25349000-25360000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:25349000-25360400	Weak transcription	Psoas Muscle	Psoas
9	chr12:25349000-25369200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:25349000-25372800	Weak transcription	Aorta	Aorta
11	chr12:25349000-25374200	Weak transcription	Lung	lung
12	chr12:25349000-25386000	Weak transcription	Left Ventricle	heart
13	chr12:25349000-25402400	Weak transcription	Right Ventricle	heart
14	chr12:25349200-25359000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:25349200-25359400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:25349200-25360800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:25349200-25362400	Weak transcription	Colonic Mucosa	Colon
18	chr12:25349200-25363200	Weak transcription	Brain Substantia Nigra	brain
19	chr12:25349200-25363400	Weak transcription	Stomach Mucosa	stomach
20	chr12:25349400-25359800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:25349400-25367400	Weak transcription	Fetal Stomach	stomach
22	chr12:25349400-25388200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:25349400-25388600	Weak transcription	NHLF	lung
24	chr12:25349400-25393800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:25349400-25396000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:25349400-25401800	Weak transcription	Fetal Brain Male	brain
27	chr12:25349400-25402600	Weak transcription	Brain Germinal Matrix	brain
28	chr12:25349600-25358400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:25349600-25359200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:25349600-25359200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:25349600-25359400	Weak transcription	Fetal Kidney	kidney
32	chr12:25349600-25359400	Weak transcription	Fetal Lung	lung
33	chr12:25349600-25360000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:25349600-25360000	Weak transcription	Fetal Brain Female	brain
35	chr12:25349600-25360800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:25349600-25364600	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:25349600-25389000	Weak transcription	Brain Angular Gyrus	brain
38	chr12:25349600-25394600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:25349600-25402600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:25349600-25402600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:25349600-25402600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:25349600-25402600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:25349800-25358000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:25349800-25358400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:25349800-25359800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:25349800-25360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:25349800-25360000	Weak transcription	Thymus	Thymus
48	chr12:25349800-25360200	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:25349800-25360400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:25349800-25360400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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