Variant report

Variant	rs12278256
Chromosome Location	chr11:76155555-76155556
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr11:76155423-76156122	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr11:76155217-76156258	K562	blood:	n/a	n/a
3	POLR2A	chr11:76155126-76156361	GM12878	blood:	n/a	n/a
4	TAF1	chr11:76155221-76157082	H1-neurons	neurons:	n/a	n/a
5	ATF2	chr11:76155269-76156077	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:76154799-76156952	Raji	blood:	n/a	n/a
7	MYC	chr11:76155432-76155584	K562	blood:	n/a	n/a
8	CHD2	chr11:76155272-76157169	GM12878	blood:	n/a	chr11:76156617-76156627
9	TCF7L2	chr11:76155352-76156531	PANC-1	pancreas:	n/a	n/a
10	ZBTB7A	chr11:76155542-76155845	HepG2	liver:	n/a	n/a
11	SMARCC2	chr11:76155395-76157089	Hela-S3	cervix:	n/a	chr11:76155900-76155909 chr11:76156019-76156028
12	EP300	chr11:76155466-76156206	HepG2	liver:	n/a	chr11:76156046-76156062
13	NR2F2	chr11:76155112-76156160	K562	blood:	n/a	n/a
14	YY1	chr11:76155416-76156337	GM12891	blood:	n/a	chr11:76155704-76155712 chr11:76156072-76156080 chr11:76155738-76155752 chr11:76156069-76156091 chr11:76156069-76156079 chr11:76155698-76155718 chr11:76156045-76156059 chr11:76155699-76155718
15	ATF1	chr11:76155442-76156143	K562	blood:	n/a	n/a
16	RAD21	chr11:76155414-76155952	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCLAF1	chr11:76155315-76156245	GM12878	blood:	n/a	chr11:76155437-76155446
18	POLR2A	chr11:76154201-76156325	MCF10A-Er-Src	breast:	n/a	n/a
19	TAF1	chr11:76155385-76155949	GM12892	blood:	n/a	n/a
20	MAX	chr11:76155138-76156309	A549	lung:	n/a	n/a
21	UBTF	chr11:76155410-76155787	K562	blood:	n/a	n/a
22	POLR2A	chr11:76154180-76156269	MCF10A-Er-Src	breast:	n/a	n/a
23	MAFK	chr11:76155503-76156175	K562	blood:	n/a	n/a
24	POLR2A	chr11:76155240-76157194	H1-hESC	embryonic stem cell:	n/a	n/a
25	PML	chr11:76154895-76156479	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:76155256-76156179	GM12891	blood:	n/a	n/a
27	USF1	chr11:76155427-76156093	A549	lung:	n/a	chr11:76156036-76156052
28	ATF2	chr11:76155234-76156040	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr11:76155283-76157193	K562	blood:	n/a	n/a
30	POLR2A	chr11:76155240-76156310	K562	blood:	n/a	n/a
31	POLR2A	chr11:76155180-76157217	H1-neurons	neurons:	n/a	n/a
32	ELF1	chr11:76155301-76156362	GM12878	blood:	n/a	chr11:76155439-76155450
33	NFYB	chr11:76155476-76156161	GM12878	blood:	n/a	chr11:76155748-76155763 chr11:76155749-76155763 chr11:76155752-76155764 chr11:76155748-76155763
34	TAF1	chr11:76155296-76156262	GM12878	blood:	n/a	n/a
35	E2F4	chr11:76155447-76156367	K562	blood:	n/a	chr11:76156006-76156013 chr11:76156049-76156058 chr11:76155752-76155761 chr11:76156005-76156013 chr11:76156002-76156014 chr11:76156006-76156013 chr11:76156006-76156013 chr11:76156005-76156014
36	CHD2	chr11:76155263-76156081	K562	blood:	n/a	n/a
37	POLR2A	chr11:76155243-76157048	GM12892	blood:	n/a	n/a
38	BACH1	chr11:76155276-76156124	H1-hESC	embryonic stem cell:	n/a	n/a
39	NFATC1	chr11:76155199-76155946	GM12878	blood:	n/a	n/a
40	E2F6	chr11:76155229-76156226	K562	blood:	n/a	chr11:76156006-76156013 chr11:76156049-76156058 chr11:76155752-76155761 chr11:76156005-76156013 chr11:76156002-76156014 chr11:76156006-76156013 chr11:76156006-76156013 chr11:76156005-76156014
41	YY1	chr11:76155287-76156829	K562	blood:	n/a	chr11:76155704-76155712 chr11:76156616-76156625 chr11:76156616-76156630 chr11:76156072-76156080 chr11:76155738-76155752 chr11:76156069-76156091 chr11:76156069-76156079 chr11:76155698-76155718 chr11:76156045-76156059 chr11:76155699-76155718
42	ELF1	chr11:76155441-76157068	GM12878	blood:	n/a	n/a
43	ARID3A	chr11:76155423-76156109	HepG2	liver:	n/a	chr11:76156005-76156013
44	GTF2F1	chr11:76155378-76156343	K562	blood:	n/a	n/a
45	POLR2A	chr11:76155325-76157034	K562	blood:	n/a	n/a
46	POLR2A	chr11:76155149-76156978	GM12892	blood:	n/a	n/a
47	BRCA1	chr11:76155167-76156181	Hela-S3	cervix:	n/a	n/a
48	TEAD4	chr11:76155426-76156252	H1-hESC	embryonic stem cell:	n/a	n/a
49	GTF2F1	chr11:76155208-76156234	Hela-S3	cervix:	n/a	n/a
50	YY1	chr11:76155287-76156324	ECC-1	luminal epithelium:	n/a	chr11:76155704-76155712 chr11:76156072-76156080 chr11:76155738-76155752 chr11:76156069-76156091 chr11:76156069-76156079 chr11:76155698-76155718 chr11:76156045-76156059 chr11:76155699-76155718

No.	Distal block	Cell Line	Cell type
1	chr1:23885601..23886217-chr11:76154942..76155634,2	Hela-S3	cervix:
2	chr11:76090234..76093573-chr11:76154824..76158196,8	MCF-7	breast:
3	chr11:76154912..76157253-chr11:76299607..76302337,2	K562	blood:
4	chr11:76155236..76155963-chr17:54991137..54992001,2	Hela-S3	cervix:
5	chr11:76070486..76072111-chr11:76154139..76156807,2	MCF-7	breast:
6	chr11:76154999..76155834-chr15:75939758..75940466,2	Hela-S3	cervix:
7	chr11:76155250..76155837-chr2:55459276..55459949,2	Hela-S3	cervix:
8	chr11:76155160..76155919-chr8:86019103..86019685,2	Hela-S3	cervix:
9	chr11:76155497..76156124-chr15:65596892..65597611,2	HCT-116	colon:
10	chr1:156721392..156722188-chr11:76155335..76156001,2	Hela-S3	cervix:
11	chr1:169862695..169863202-chr11:76155222..76156123,2	Hela-S3	cervix:
12	chr11:76155242..76156014-chr18:48556195..48556733,2	Hela-S3	cervix:
13	chr11:16759751..16760339-chr11:76155088..76156401,3	Hela-S3	cervix:
14	chr11:76155276..76156041-chr16:89626663..89627459,2	Hela-S3	cervix:
15	chr11:76089758..76095735-chr11:76153234..76157826,15	MCF-7	breast:
16	chr11:76155473..76156990-chr11:77788075..77790894,2	MCF-7	breast:
17	chr11:76155020..76155613-chr16:89988344..89988876,2	Hela-S3	cervix:
18	chr11:76090615..76095251-chr11:76152894..76157527,10	K562	blood:
19	chr1:210546934..210547890-chr11:76154911..76155974,3	Hela-S3	cervix:
20	chr11:76155312..76155994-chr16:75681595..75682217,2	NB4	blood:
21	chr11:76092719..76095251-chr11:76155129..76157307,4	K562	blood:
22	chr11:76155325..76156149-chr17:41276954..41277671,2	Hela-S3	cervix:
23	chr11:76155162..76155791-chr6:30711728..30712371,2	Hela-S3	cervix:
24	chr11:76096828..76101087-chr11:76152871..76156603,6	MCF-7	breast:
25	chr11:76155284..76156014-chr17:79481374..79482088,2	Hela-S3	cervix:
26	chr11:76155227..76155947-chr7:39989290..39990183,2	Hela-S3	cervix:
27	chr11:76155311..76156031-chr12:54673725..54674635,2	Hela-S3	cervix:
28	chr11:76155271..76156134-chr16:31191052..31191894,2	Hela-S3	cervix:
29	chr11:76154138..76157007-chr17:62501424..62503777,2	MCF-7	breast:
30	chr11:76154597..76156492-chr11:76776948..76779266,2	K562	blood:
31	chr11:76155451..76155958-chr4:128703322..128703844,2	Hela-S3	cervix:
32	chr11:76155499..76156013-chr12:46766194..46767003,2	Hela-S3	cervix:
33	chr11:10315551..10316429-chr11:76155187..76155779,2	Hela-S3	cervix:
34	chr11:76155354..76155924-chr14:54863465..54864186,2	Hela-S3	cervix:
35	chr11:76155356..76155881-chr7:73152549..73153100,2	Hela-S3	cervix:
36	chr11:76155490..76156178-chr20:62496007..62496928,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKRIR-1	chr11:76155322-76155704	XLOC_009507
2	lnc-PRKRIR-1	chr11:76155249-76155700	ENSG00000255135.2
3	lnc-PRKRIR-1	chr11:76155322-76155618	ENSG00000255135.2
4	lnc-PRKRIR-1	chr11:76152384-76155841	NONHSAT023169
5	lnc-PRKRIR-1	chr11:76153117-76155724	ENSG00000255135.2

Variant related genes	Relation type
C11orf30	TF binding region
ENSG00000101150	Chromatin interaction
ENSG00000198496	Chromatin interaction
ENSG00000110696	Chromatin interaction
ENSG00000117318	Chromatin interaction
ENSG00000272301	Chromatin interaction
ENSG00000259112	Chromatin interaction
ENSG00000094916	Chromatin interaction
ENSG00000137492	Chromatin interaction
ENSG00000179240	Chromatin interaction
ENSG00000133739	Chromatin interaction
ENSG00000000457	Chromatin interaction
ENSG00000184009	Chromatin interaction
ENSG00000167526	Chromatin interaction
ENSG00000121060	Chromatin interaction
ENSG00000065883	Chromatin interaction
ENSG00000012048	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000258890	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000259826	Chromatin interaction
ENSG00000133812	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000141646	Chromatin interaction
ENSG00000173548	Chromatin interaction
ENSG00000149260	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000110693	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000100526	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000162994	Chromatin interaction
ENSG00000135486	Chromatin interaction
ENSG00000151366	Chromatin interaction
ENSG00000143321	Chromatin interaction
ENSG00000254755	Chromatin interaction
ENSG00000106077	Chromatin interaction
ENSG00000164070	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10751254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899226	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.87[TSI][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236745	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11236754	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236774	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11820030	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12271015	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12280236	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12288653	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12288707	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12293666	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134872	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134897	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508754	1.00[EUR][1000 genomes]
rs2510905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513506	1.00[EUR][1000 genomes]
rs2513507	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2513509	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513510	0.81[AFR][1000 genomes]
rs2513519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513521	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3758780	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs4245444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4290257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4421765	1.00[ASN][1000 genomes]
rs4603332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58576354	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592638	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592643	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7105179	1.00[EUR][1000 genomes]
rs7123914	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939908	1.00[EUR][1000 genomes]
rs7945459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050713	chr11:76147085-76267117	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76153800-76157400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:76153800-76157400	Active TSS	Right Atrium	heart
3	chr11:76153800-76158800	Active TSS	GM12878-XiMat	blood
4	chr11:76154000-76157400	Active TSS	Left Ventricle	heart
5	chr11:76154000-76157600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:76154000-76157600	Active TSS	K562	blood
7	chr11:76154200-76155600	ZNF genes & repeats	Fetal Heart	heart
8	chr11:76154200-76157600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr11:76154200-76157600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:76154200-76157600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:76154200-76157800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:76154200-76158000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:76154400-76156000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:76154400-76156400	Bivalent/Poised TSS	HepG2	liver
15	chr11:76154400-76157000	Active TSS	Colonic Mucosa	Colon
16	chr11:76154400-76157000	Active TSS	Fetal Muscle Leg	muscle
17	chr11:76154400-76157200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:76154400-76157200	Active TSS	Psoas Muscle	Psoas
19	chr11:76154400-76157400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr11:76154400-76157400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr11:76154400-76157400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:76154400-76157400	Active TSS	Fetal Intestine Small	intestine
23	chr11:76154400-76157400	Active TSS	Right Ventricle	heart
24	chr11:76154400-76157400	Active TSS	HSMM	muscle
25	chr11:76154400-76157600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:76154600-76155600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr11:76154600-76155600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr11:76154600-76156200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:76154600-76157000	Active TSS	NHEK	skin
30	chr11:76154600-76157200	Active TSS	Fetal Intestine Large	intestine
31	chr11:76154600-76157400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:76154600-76157400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:76154600-76157400	Active TSS	Esophagus	oesophagus
34	chr11:76154600-76157400	Active TSS	Fetal Muscle Trunk	muscle
35	chr11:76154600-76157400	Active TSS	HMEC	breast
36	chr11:76154600-76157400	Active TSS	HSMMtube	muscle
37	chr11:76154600-76157400	Active TSS	NHLF	lung
38	chr11:76154600-76157800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:76154800-76156000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:76154800-76156600	Active TSS	Primary T cells fromperipheralblood	blood
41	chr11:76154800-76157000	Active TSS	Fetal Thymus	thymus
42	chr11:76154800-76157000	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr11:76154800-76157000	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr11:76154800-76157000	Active TSS	Small Intestine	intestine
45	chr11:76154800-76157000	Active TSS	Stomach Smooth Muscle	stomach
46	chr11:76154800-76157200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr11:76154800-76157200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:76154800-76157200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:76154800-76157200	Active TSS	Placenta Amnion	Placenta Amnion
50	chr11:76154800-76157400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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