Variant report

Variant	rs12280236
Chromosome Location	chr11:76156788-76156789
allele	A/G
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	MAX	chr11:76156506-76157252	ECC-1	luminal epithelium:	n/a	chr11:76156614-76156624
2	EP300	chr11:76156668-76157185	T-47D	breast:	n/a	chr11:76156795-76156804 chr11:76156910-76156926
3	GTF2F1	chr11:76156533-76157048	H1-hESC	embryonic stem cell:	n/a	n/a
4	RCOR1	chr11:76156593-76156820	K562	blood:	n/a	n/a
5	TAF1	chr11:76155221-76157082	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr11:76154799-76156952	Raji	blood:	n/a	n/a
7	SIN3AK20	chr11:76156405-76157178	PFSK-1	brain:	n/a	n/a
8	CHD2	chr11:76155272-76157169	GM12878	blood:	n/a	chr11:76156617-76156627
9	SMARCC2	chr11:76155395-76157089	Hela-S3	cervix:	n/a	chr11:76155900-76155909 chr11:76156019-76156028
10	YY1	chr11:76156629-76157126	H1-hESC	embryonic stem cell:	n/a	chr11:76156980-76156991
11	POLR2A	chr11:76155240-76157194	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F4	chr11:76156659-76157071	MCF10A-Er-Src	breast:	n/a	chr11:76156821-76156830
13	CCNT2	chr11:76155574-76156953	K562	blood:	n/a	chr11:76156616-76156625 chr11:76156882-76156891
14	POLR2A	chr11:76155283-76157193	K562	blood:	n/a	n/a
15	POLR2A	chr11:76155180-76157217	H1-neurons	neurons:	n/a	n/a
16	MAX	chr11:76156433-76157111	Hela-S3	cervix:	n/a	chr11:76156614-76156624
17	MXI1	chr11:76156501-76157086	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:76155243-76157048	GM12892	blood:	n/a	n/a
19	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
20	ELF1	chr11:76155441-76157068	GM12878	blood:	n/a	n/a
21	MXI1	chr11:76156391-76157058	K562	blood:	n/a	n/a
22	POLR2A	chr11:76155325-76157034	K562	blood:	n/a	n/a
23	POLR2A	chr11:76155149-76156978	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:76155156-76157114	ProgFib	skin:	n/a	n/a
25	IKZF1	chr11:76156637-76157035	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:76156426-76156858	GM12878	blood:	n/a	n/a
27	ZC3H11A	chr11:76156572-76157131	K562	blood:	n/a	n/a
28	MAX	chr11:76156396-76157284	A549	lung:	n/a	chr11:76156614-76156624
29	HEY1	chr11:76155200-76157147	K562	blood:	n/a	n/a
30	GTF2F1	chr11:76156772-76156972	K562	blood:	n/a	n/a
31	E2F6	chr11:76156693-76156952	K562	blood:	n/a	chr11:76156821-76156830
32	POLR2A	chr11:76156339-76157169	ECC-1	luminal epithelium:	n/a	n/a
33	HEY1	chr11:76156545-76157103	HepG2	liver:	n/a	n/a
34	ZBTB7A	chr11:76156418-76157123	K562	blood:	n/a	n/a
35	MAX	chr11:76156508-76157058	K562	blood:	n/a	chr11:76156614-76156624
36	POLR2A	chr11:76154664-76157161	Hela-S3	cervix:	n/a	n/a
37	SIN3AK20	chr11:76156783-76157040	SK-N-SH	brain:	n/a	n/a
38	MXI1	chr11:76154557-76157360	IMR90	lung:	n/a	chr11:76156167-76156176
39	POLR2A	chr11:76153936-76157201	HepG2	liver:	n/a	n/a
40	CREB1	chr11:76156544-76157147	H1-hESC	embryonic stem cell:	n/a	n/a
41	FOXA2	chr11:76155634-76156973	A549	lung:	n/a	n/a
42	RAD21	chr11:76156751-76157223	IMR90	lung:	n/a	n/a
43	POLR2A	chr11:76156349-76157142	K562	blood:	n/a	n/a
44	POLR2A	chr11:76155214-76157150	Hela-S3	cervix:	n/a	n/a
45	MAX	chr11:76155123-76157150	MCF-7	breast:	n/a	chr11:76156614-76156624
46	CTCF	chr11:76156700-76156850	SAEC	small airway:	n/a	n/a
47	POLR2A	chr11:76154686-76157275	HUVEC	blood vessel:	n/a	n/a
48	YY1	chr11:76155293-76157130	K562	blood:	n/a	chr11:76156980-76156991 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
49	TAF1	chr11:76156518-76157149	Hela-S3	cervix:	n/a	n/a
50	MXI1	chr11:76155188-76157101	GM12878	blood:	n/a	chr11:76156167-76156176

No.	Distal block	Cell Line	Cell type
1	chr11:76090234..76093573-chr11:76154824..76158196,8	MCF-7	breast:
2	chr11:76154912..76157253-chr11:76299607..76302337,2	K562	blood:
3	chr11:76070486..76072111-chr11:76154139..76156807,2	MCF-7	breast:
4	chr11:76089758..76095735-chr11:76153234..76157826,15	MCF-7	breast:
5	chr11:76155473..76156990-chr11:77788075..77790894,2	MCF-7	breast:
6	chr11:76090615..76095251-chr11:76152894..76157527,10	K562	blood:
7	chr11:76092719..76095251-chr11:76155129..76157307,4	K562	blood:
8	chr11:76154138..76157007-chr17:62501424..62503777,2	MCF-7	breast:
9	chr11:76156036..76156906-chr5:41904032..41904829,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000255135	TF binding region
C11orf30	TF binding region
ENSG00000259112	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000179240	Chromatin interaction
ENSG00000258890	Chromatin interaction
ENSG00000137492	Chromatin interaction
ENSG00000151366	Chromatin interaction
ENSG00000205765	Chromatin interaction
ENSG00000254755	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10751254	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899226	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236745	0.83[ASN][1000 genomes]
rs11236754	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236774	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11820030	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12271015	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12278256	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];0.90[ASN][1000 genomes]
rs12288707	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12293666	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17134872	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17134897	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2508754	1.00[EUR][1000 genomes]
rs2510905	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513506	1.00[EUR][1000 genomes]
rs2513507	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2513509	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513519	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513521	0.81[ASN][1000 genomes]
rs4245444	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4290257	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4421765	0.93[ASN][1000 genomes]
rs4603332	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58576354	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6592638	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6592643	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7105179	1.00[EUR][1000 genomes]
rs7123914	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7939908	1.00[EUR][1000 genomes]
rs7945459	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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	chr11:76154200-76157600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr11:76154200-76157600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:76154200-76157600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:76154200-76157800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:76154200-76158000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:76154400-76157000	Active TSS	Colonic Mucosa	Colon
13	chr11:76154400-76157000	Active TSS	Fetal Muscle Leg	muscle
14	chr11:76154400-76157200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:76154400-76157200	Active TSS	Psoas Muscle	Psoas
16	chr11:76154400-76157400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:76154400-76157400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:76154400-76157400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:76154400-76157400	Active TSS	Fetal Intestine Small	intestine
20	chr11:76154400-76157400	Active TSS	Right Ventricle	heart
21	chr11:76154400-76157400	Active TSS	HSMM	muscle
22	chr11:76154400-76157600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:76154600-76157000	Active TSS	NHEK	skin
24	chr11:76154600-76157200	Active TSS	Fetal Intestine Large	intestine
25	chr11:76154600-76157400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:76154600-76157400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:76154600-76157400	Active TSS	Esophagus	oesophagus
28	chr11:76154600-76157400	Active TSS	Fetal Muscle Trunk	muscle
29	chr11:76154600-76157400	Active TSS	HMEC	breast
30	chr11:76154600-76157400	Active TSS	HSMMtube	muscle
31	chr11:76154600-76157400	Active TSS	NHLF	lung
32	chr11:76154600-76157800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:76154800-76157000	Active TSS	Fetal Thymus	thymus
34	chr11:76154800-76157000	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr11:76154800-76157000	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr11:76154800-76157000	Active TSS	Small Intestine	intestine
37	chr11:76154800-76157000	Active TSS	Stomach Smooth Muscle	stomach
38	chr11:76154800-76157200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr11:76154800-76157200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:76154800-76157200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:76154800-76157200	Active TSS	Placenta Amnion	Placenta Amnion
42	chr11:76154800-76157400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:76154800-76157400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:76154800-76157400	Active TSS	NHDF-Ad	bronchial
45	chr11:76154800-76157600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:76154800-76157600	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr11:76154800-76157800	Active TSS	A549	lung
48	chr11:76155000-76156800	Active TSS	Placenta	Placenta
49	chr11:76155000-76157000	Active TSS	Fetal Brain Male	brain
50	chr11:76155000-76157000	Active TSS	Fetal Lung	lung

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