Variant report

Variant	nsv557798
Chromosome Location	chr12:25359841-25397282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:538)
CpG islands
(count:367)
Chromatin interactive
region (count:62)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:27)

(count:538 , 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	chr12:25363909-25364167	K562	blood:	n/a	n/a
2	ARID3A	chr12:25394146-25394461	HepG2	liver:	n/a	chr12:25394188-25394204
3	ARID3A	chr12:25361561-25361843	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:25363934-25364141	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:25394206-25394468	K562	blood:	n/a	n/a
6	BRCA1	chr12:25394204-25394433	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr12:25381505-25381836	A549	lung:	n/a	chr12:25381648-25381659
8	CEBPB	chr12:25361590-25361788	HepG2	liver:	n/a	n/a
9	CEBPB	chr12:25394636-25394882	A549	lung:	n/a	n/a
10	CEBPB	chr12:25365194-25365409	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr12:25360891-25361046	Hela-S3	cervix:	n/a	chr12:25360975-25360986
12	CEBPB	chr12:25381582-25381677	H1-hESC	embryonic stem cell:	n/a	chr12:25381648-25381659
13	CEBPB	chr12:25381626-25381688	K562	blood:	n/a	chr12:25381648-25381659
14	CEBPB	chr12:25395446-25395657	A549	lung:	n/a	n/a
15	CEBPB	chr12:25381498-25381791	HepG2	liver:	n/a	chr12:25381648-25381659
16	CEBPB	chr12:25381627-25381731	Hela-S3	cervix:	n/a	chr12:25381648-25381659
17	CEBPB	chr12:25360820-25361146	HepG2	liver:	n/a	chr12:25360975-25360986
18	CEBPB	chr12:25360879-25361093	K562	blood:	n/a	chr12:25360975-25360986
19	CEBPB	chr12:25360851-25361158	A549	lung:	n/a	chr12:25360975-25360986
20	CEBPB	chr12:25381491-25381790	IMR90	lung:	n/a	chr12:25381648-25381659
21	CEBPB	chr12:25394641-25394890	IMR90	lung:	n/a	n/a
22	CTCF	chr12:25363960-25364110	HA-sp	spinal cord:	n/a	n/a
23	CTCF	chr12:25394240-25394390	NB4	blood:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
24	CTCF	chr12:25363639-25364332	SK-N-SH	brain:	n/a	chr12:25363831-25363839
25	CTCF	chr12:25363860-25364010	WI-38	lung:	n/a	n/a
26	CTCF	chr12:25363925-25364115	Medullo	brain:	n/a	n/a
27	CTCF	chr12:25394640-25394790	NHLF	lung:	n/a	n/a
28	CTCF	chr12:25394280-25394430	HA-sp	spinal cord:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
29	CTCF	chr12:25363920-25364070	HRE	kidney:	n/a	n/a
30	CTCF	chr12:25394221-25394391	Gliobla	brain:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
31	CTCF	chr12:25363940-25364090	AG09319	gingival:	n/a	n/a
32	CTCF	chr12:25394161-25394373	ECC-1	luminal epithelium:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
33	CTCF	chr12:25363980-25364130	NB4	blood:	n/a	n/a
34	CTCF	chr12:25363580-25363730	HCM	heart:	n/a	n/a
35	CTCF	chr12:25393480-25393630	HPF	lung:	n/a	n/a
36	CTCF	chr12:25363940-25364090	GM12866	blood:	n/a	n/a
37	CTCF	chr12:25394200-25394350	HRPEpiC	eye:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
38	CTCF	chr12:25394560-25394710	GM12875	blood:	n/a	n/a
39	CTCF	chr12:25363900-25364050	GM12864	blood:	n/a	n/a
40	CTCF	chr12:25363826-25364164	MCF-7	breast:	n/a	chr12:25363831-25363839
41	CTCF	chr12:25394240-25394390	GM12873	blood:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
42	CTCF	chr12:25394200-25394350	WERI-Rb-1	eye:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
43	CTCF	chr12:25363920-25364070	HVMF	connective:	n/a	n/a
44	CTCF	chr12:25363948-25364099	LNCaP	prostate:	n/a	n/a
45	CTCF	chr12:25363965-25364128	Lung_OC	lung:	n/a	n/a
46	CTCF	chr12:25394089-25394552	IMR90	lung:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
47	CTCF	chr12:25393946-25393983	GM12892	blood:	n/a	n/a
48	CTCF	chr12:25394220-25394370	GM12872	blood:	n/a	chr12:25394299-25394320 chr12:25394297-25394315 chr12:25394300-25394313 chr12:25394298-25394314
49	CTCF	chr12:25363900-25364050	HepG2	liver:	n/a	n/a
50	CTCF	chr12:25394140-25394290	A549	lung:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:25389111-25389161	Jurkat	blood:	n/a
2	chr12:25389111-25389161	Jurkat	blood:	n/a
3	chr12:25367653-25367703	GM06990	blood:	n/a
4	chr12:25361667-25361717	GM12892	blood:	n/a
5	chr12:25380489-25380539	SK-N-SH	brain:	n/a
6	chr12:25367653-25367703	HCF	heart:	n/a
7	chr12:25380489-25380539	AG10803	skin:	n/a
8	chr12:25394244-25394294	HCPEpiC	choroid plexus:	n/a
9	chr12:25359932-25359982	RPTEC	kidney:	n/a
10	chr12:25389111-25389161	HIPEpiC	eye:	n/a
11	chr12:25367653-25367703	ECC-1	luminal epithelium:	n/a
12	chr12:25394244-25394294	AG04450	lung:	fetal
13	chr12:25394244-25394294	ovcar-3	ovarian:	n/a
14	chr12:25394244-25394294	A549	lung:	n/a
15	chr12:25367653-25367703	HAEpiC	amniotic membrane:	n/a
16	chr12:25380489-25380539	HIPEpiC	eye:	n/a
17	chr12:25380489-25380539	RPTEC	kidney:	n/a
18	chr12:25389111-25389161	GM12891	blood:	n/a
19	chr12:25394244-25394294	MCF-7	breast:	n/a
20	chr12:25359932-25359982	PrEC	prostate:	n/a
21	chr12:25367653-25367703	NHBE	bronchial:	n/a
22	chr12:25380489-25380539	HUVEC	blood vessel:	n/a
23	chr12:25380489-25380539	HL-60	blood:	n/a
24	chr12:25380489-25380539	MCF-7	breast:	n/a
25	chr12:25394244-25394294	Jurkat	blood:	n/a
26	chr12:25361667-25361717	GM06990	blood:	n/a
27	chr12:25389111-25389161	BJ	skin:	n/a
28	chr12:25367653-25367703	SKMC	muscle:	n/a
29	chr12:25394244-25394294	SK-N-MC	brain:	n/a
30	chr12:25389111-25389161	SKMC	muscle:	n/a
31	chr12:25380489-25380539	GM12878	blood:	n/a
32	chr12:25394244-25394294	NB4	blood:	n/a
33	chr12:25359932-25359982	T-47D	breast:	n/a
34	chr12:25361667-25361717	AG04449	skin:	fetal
35	chr12:25367653-25367703	PANC-1	pancreas:	n/a
36	chr12:25389111-25389161	RPTEC	kidney:	n/a
37	chr12:25361667-25361717	PFSK-1	brain:	n/a
38	chr12:25394244-25394294	NH-A	brain:	n/a
39	chr12:25380489-25380539	HEEpiC	esophagus:	n/a
40	chr12:25394244-25394294	LNCaP	prostate:	n/a
41	chr12:25394244-25394294	GM06990	blood:	n/a
42	chr12:25359932-25359982	NH-A	brain:	n/a
43	chr12:25380489-25380539	SKMC	muscle:	n/a
44	chr12:25380489-25380539	AG09319	gingival:	n/a
45	chr12:25361667-25361717	ECC-1	luminal epithelium:	n/a
46	chr12:25361667-25361717	NHDF-neo	bronchial:	n/a
47	chr12:25380489-25380539	U87	brain:	n/a
48	chr12:25394244-25394294	SAEC	small airway:	n/a
49	chr12:25380489-25380539	HepG2	liver:	n/a
50	chr12:25361667-25361717	Caco-2	colon:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:25355467..25357313-chr12:25364708..25367209,2	MCF-7	breast:
2	chr12:25382080..25386117-chr12:25388802..25392255,4	MCF-7	breast:
3	chr12:25357761..25359956-chr12:25367991..25370766,2	K562	blood:
4	chr12:25308195..25309123-chr12:25363634..25364498,3	MCF-7	breast:
5	chr12:25363589..25364537-chr12:25539516..25540655,6	K562	blood:
6	chr12:25393614..25397250-chr12:25537759..25541230,3	K562	blood:
7	chr12:25386176..25388499-chr12:25396518..25399211,2	K562	blood:
8	chr12:25387876..25389586-chr12:25395973..25398657,2	MCF-7	breast:
9	chr12:25389042..25390655-chr12:25537346..25539555,2	K562	blood:
10	chr12:25395817..25398136-chr12:25402041..25404103,3	MCF-7	breast:
11	chr12:25389042..25391439-chr12:25537346..25540580,3	K562	blood:
12	chr12:25359301..25361525-chr12:25535610..25537656,2	MCF-7	breast:
13	chr12:25392189..25396143-chr12:25537109..25540514,5	MCF-7	breast:
14	chr12:25391008..25395226-chr12:25537516..25540664,6	MCF-7	breast:
15	chr12:25369268..25371670-chr12:25372641..25374777,2	K562	blood:
16	chr12:25356292..25358617-chr12:25386148..25388337,2	K562	blood:
17	chr12:25347765..25350303-chr12:25380801..25383112,2	K562	blood:
18	chr12:25365078..25366619-chr12:25369523..25372416,2	MCF-7	breast:
19	chr12:25367183..25369335-chr12:25401740..25404657,2	K562	blood:
20	chr12:25363402..25366108-chr12:25366322..25370146,4	K562	blood:
21	chr12:25347822..25349448-chr12:25393045..25395353,2	K562	blood:
22	chr12:25387227..25389943-chr12:25538363..25541492,5	MCF-7	breast:
23	chr12:25350292..25353485-chr12:25360688..25363918,3	K562	blood:
24	chr12:25365078..25366619-chr12:25369523..25372416,2	MCF-7	breast:
25	chr12:25390084..25393498-chr12:25395156..25398677,4	K562	blood:
26	chr12:25393339..25393839-chr19:42788047..42788568,2	Hela-S3	cervix:
27	chr12:25387866..25389921-chr12:25394570..25396396,2	K562	blood:
28	chr12:25360345..25363187-chr12:25402530..25405370,3	MCF-7	breast:
29	chr12:25387866..25389921-chr12:25394570..25396396,2	K562	blood:
30	chr12:25365341..25368190-chr12:25372186..25374038,3	K562	blood:
31	chr12:25390084..25392027-chr12:25396306..25398130,2	K562	blood:
32	chr12:25351123..25353485-chr12:25360688..25362521,2	K562	blood:
33	chr12:25393908..25395243-chr12:25539760..25541064,6	MCF-7	breast:
34	chr12:25381583..25383823-chr12:25538324..25540925,2	MCF-7	breast:
35	chr12:25361412..25364076-chr12:25538514..25540823,3	MCF-7	breast:
36	chr12:25346926..25348461-chr12:25395724..25397256,2	K562	blood:
37	chr12:25383629..25385819-chr12:25387007..25389095,3	K562	blood:
38	chr12:25365341..25368190-chr12:25372186..25374038,3	K562	blood:
39	chr12:25363524..25364491-chr12:25539761..25541033,6	MCF-7	breast:
40	chr12:25374667..25376275-chr12:25538589..25540510,2	MCF-7	breast:
41	chr12:25390084..25392027-chr12:25396306..25398130,2	K562	blood:
42	chr12:25353810..25355602-chr12:25365715..25367870,2	MCF-7	breast:
43	chr12:25390084..25393498-chr12:25395156..25398677,4	K562	blood:
44	chr12:25382080..25386117-chr12:25388802..25392255,4	MCF-7	breast:
45	chr12:25346488..25348409-chr12:25363971..25365623,2	K562	blood:
46	chr12:25393086..25399970-chr12:25400304..25404361,8	MCF-7	breast:
47	chr12:25393601..25395179-chr12:25539007..25540955,10	MCF-7	breast:
48	chr12:25357761..25359956-chr12:25367991..25370766,2	K562	blood:
49	chr12:25363141..25364781-chr12:25539309..25541339,2	K562	blood:
50	chr12:25370682..25374580-chr12:25537849..25540511,3	K562	blood:

No data

(count:27 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KRAS	hsa-miR-193b-3p	chr12:25367300-25367294
2	KRAS	hsa-miR-217	chr12:25367979-25367973
3	KRAS	hsa-miR-193b-3p	chr12:25368071-25368065
4	KRAS	hsa-miR-181a-5p	chr12:25367741-25367734
5	KRAS	hsa-miR-143-3p	chr12:25361123-25361143
6	KRAS	hsa-miR-217	chr12:25363918-25363912
7	KRAS	hsa-miR-181c-5p	chr12:25363997-25363991
8	KRAS	hsa-miR-193b-3p	chr12:25361769-25361790
9	KRAS	hsa-miR-143-3p	chr12:25366654-25366647
10	KRAS	hsa-miR-181c-5p	chr12:25362412-25362431
11	KRAS	hsa-miR-96-5p	chr12:25364045-25364039
12	KRAS	hsa-miR-181a-5p	chr12:25362210-25362232
13	KRAS	hsa-miR-181c-5p	chr12:25362216-25362209
14	KRAS	hsa-miR-217	chr12:25362454-25362448
15	KRAS	hsa-miR-193b-3p	chr12:25362546-25362540
16	KRAS	hsa-miR-143-3p	chr12:25361129-25361122
17	KRAS	hsa-miR-181a-5p	chr12:25363997-25363991
18	KRAS	hsa-miR-193b-3p	chr12:25361775-25361769
19	KRAS	hsa-miR-155-5p	chr12:25368169-25368163
20	KRAS	hsa-miR-143-3p	chr12:25364602-25364595
21	KRAS	hsa-miR-181c-5p	chr12:25367741-25367734
22	KRAS	hsa-miR-217	chr12:25360871-25360893
23	KRAS	hsa-miR-155-5p	chr12:25362638-25362660
24	KRAS	hsa-miR-181c-5p	chr12:25362210-25362229
25	KRAS	hsa-miR-181a-5p	chr12:25362216-25362209
26	KRAS	hsa-miR-181a-5p	chr12:25362412-25362431
27	KRAS	hsa-miR-155-5p	chr12:25362644-25362638

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

Extended variants
information (count: 1349 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1349 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13096	chr12:25359841-25359842	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191137453	chr12:25359898-25359899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180766260	chr12:25359919-25359920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186623679	chr12:25359927-25359928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554935568	chr12:25360036-25360037	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1141949	chr12:25360078-25360079	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149693994	chr12:25360082-25360083	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576490551	chr12:25360090-25360091	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76218271	chr12:25360091-25360092	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190084851	chr12:25360098-25360099	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577522631	chr12:25360100-25360101	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541591920	chr12:25360103-25360104	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4963858	chr12:25360138-25360139	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530384176	chr12:25360139-25360140	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532209180	chr12:25360206-25360207	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548736741	chr12:25360223-25360224	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61764370	chr12:25360224-25360225	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140231179	chr12:25360342-25360343	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369762040	chr12:25360343-25360344	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531351445	chr12:25360349-25360350	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs61764369	chr12:25360358-25360359	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570965862	chr12:25360363-25360364	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532199542	chr12:25360436-25360437	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs56128001	chr12:25360449-25360450	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs397747594	chr12:25360460-25360461	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs199738189	chr12:25360461-25360462	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547157302	chr12:25360463-25360464	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565872057	chr12:25360522-25360523	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374256041	chr12:25360523-25360524	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536526477	chr12:25360533-25360534	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs61764368	chr12:25360545-25360546	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs61764367	chr12:25360559-25360560	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs1141948	chr12:25360580-25360581	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537402686	chr12:25360692-25360693	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559097129	chr12:25360713-25360714	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577384387	chr12:25360765-25360766	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541658887	chr12:25360770-25360771	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553587737	chr12:25360811-25360812	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575057228	chr12:25360900-25360901	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542504682	chr12:25360904-25360905	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551212058	chr12:25360920-25360921	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs377712872	chr12:25360934-25360935	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs115968671	chr12:25360964-25360965	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113446944	chr12:25360979-25360980	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531344668	chr12:25361019-25361020	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539213224	chr12:25361024-25361025	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564657779	chr12:25361058-25361059	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532064692	chr12:25361059-25361060	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7973623	chr12:25361074-25361075	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535478558	chr12:25361091-25361092	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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:845 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

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	chr12:25348800-25360200	Weak transcription	Esophagus	oesophagus
5	chr12:25349000-25360000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:25349000-25360000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:25349000-25360400	Weak transcription	Psoas Muscle	Psoas
8	chr12:25349000-25369200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:25349000-25372800	Weak transcription	Aorta	Aorta
10	chr12:25349000-25374200	Weak transcription	Lung	lung
11	chr12:25349000-25386000	Weak transcription	Left Ventricle	heart
12	chr12:25349000-25402400	Weak transcription	Right Ventricle	heart
13	chr12:25349200-25360800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:25349200-25362400	Weak transcription	Colonic Mucosa	Colon
15	chr12:25349200-25363200	Weak transcription	Brain Substantia Nigra	brain
16	chr12:25349200-25363400	Weak transcription	Stomach Mucosa	stomach
17	chr12:25349400-25367400	Weak transcription	Fetal Stomach	stomach
18	chr12:25349400-25388200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:25349400-25388600	Weak transcription	NHLF	lung
20	chr12:25349400-25393800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:25349400-25396000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:25349400-25401800	Weak transcription	Fetal Brain Male	brain
23	chr12:25349400-25402600	Weak transcription	Brain Germinal Matrix	brain
24	chr12:25349600-25360000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:25349600-25360000	Weak transcription	Fetal Brain Female	brain
26	chr12:25349600-25360800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:25349600-25364600	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:25349600-25389000	Weak transcription	Brain Angular Gyrus	brain
29	chr12:25349600-25394600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:25349600-25402600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:25349600-25402600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:25349600-25402600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:25349600-25402600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:25349800-25360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:25349800-25360000	Weak transcription	Thymus	Thymus
36	chr12:25349800-25360200	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:25349800-25360400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:25349800-25360400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:25349800-25379200	Weak transcription	Brain Anterior Caudate	brain
40	chr12:25349800-25386200	Weak transcription	Hela-S3	cervix
41	chr12:25349800-25390200	Weak transcription	K562	blood
42	chr12:25350000-25372600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:25350000-25402800	Weak transcription	Ovary	ovary
44	chr12:25353200-25378800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:25354000-25402400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:25354400-25360000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:25354400-25360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:25354400-25360000	Weak transcription	NH-A	brain
49	chr12:25354400-25368200	Weak transcription	HUVEC	blood vessel
50	chr12:25354400-25369000	Weak transcription	Brain Hippocampus Middle	brain

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