Variant report

Variant	rs12271811
Chromosome Location	chr11:71158824-71158825
allele	C/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	MYC	chr11:71158283-71160560	NB4	blood:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
2	POLR2A	chr11:71158476-71160220	MCF-7	breast:	n/a	n/a
3	MAX	chr11:71158758-71160290	K562	blood:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
4	CHD1	chr11:71158807-71159135	H1-hESC	embryonic stem cell:	n/a	n/a
5	SREBP1	chr11:71158815-71159825	HepG2	liver:	n/a	n/a
6	HMGN3	chr11:71158801-71160243	K562	blood:	n/a	n/a
7	MAX	chr11:71158768-71160515	HCT-116	colon:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
8	CEBPB	chr11:71158251-71158978	Hela-S3	cervix:	n/a	chr11:71158449-71158460 chr11:71158448-71158459 chr11:71158450-71158459 chr11:71158448-71158461
9	SIN3AK20	chr11:71157693-71160571	MCF-7	breast:	n/a	n/a
10	UBTF	chr11:71158638-71160266	K562	blood:	n/a	n/a
11	MAX	chr11:71158673-71160541	A549	lung:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
12	ZEB1	chr11:71158641-71160226	GM12878	blood:	n/a	chr11:71158730-71158741 chr11:71159264-71159271
13	SIN3A	chr11:71158432-71160629	H1-hESC	embryonic stem cell:	n/a	chr11:71159719-71159728 chr11:71159721-71159730 chr11:71158949-71158962
14	MAX	chr11:71158732-71160301	H1-hESC	embryonic stem cell:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
15	MXI1	chr11:71158050-71161114	IMR90	lung:	n/a	chr11:71159719-71159728 chr11:71159721-71159730 chr11:71159719-71159728
16	CTBP2	chr11:71158778-71160259	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:71158416-71160416	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr11:71158235-71158836	MCF-7	breast:	n/a	chr11:71158449-71158460 chr11:71158448-71158459 chr11:71158450-71158459 chr11:71158448-71158461
19	CHD2	chr11:71158818-71160334	Hela-S3	cervix:	n/a	chr11:71159515-71159525
20	REST	chr11:71158619-71160323	H1-neurons	neurons:	n/a	chr11:71159695-71159708 chr11:71158949-71158962 chr11:71159277-71159290
21	MAX	chr11:71158743-71160539	HepG2	liver:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
22	SIN3AK20	chr11:71158772-71159123	H1-hESC	embryonic stem cell:	n/a	n/a
23	RCOR1	chr11:71158436-71158983	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr11:71158731-71160282	K562	blood:	n/a	n/a
25	POLR2A	chr11:71158416-71159965	MCF-7	breast:	n/a	n/a
26	POLR2A	chr11:71158739-71160263	H1-neurons	neurons:	n/a	n/a
27	CTCF	chr11:71158720-71158870	Caco-2	colon:	n/a	n/a
28	MAX	chr11:71158207-71160474	NB4	blood:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
29	MAX	chr11:71158754-71160377	ECC-1	luminal epithelium:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
30	MAX	chr11:71158263-71160426	HepG2	liver:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
31	TCF7L2	chr11:71158409-71158987	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:71158329-71158847	MCF10A-Er-Src	breast:	n/a	n/a
33	ZEB1	chr11:71158340-71160307	HepG2	liver:	n/a	chr11:71158730-71158741 chr11:71159264-71159271
34	CEBPB	chr11:71158065-71159034	MCF-7	breast:	n/a	chr11:71158449-71158460 chr11:71158448-71158459 chr11:71158450-71158459 chr11:71158448-71158461
35	CREB1	chr11:71158733-71160346	HepG2	liver:	n/a	n/a
36	HCFC1	chr11:71158357-71160850	Hela-S3	cervix:	n/a	n/a
37	ZNF263	chr11:71158304-71159443	HEK293-T-REx	kidney:	n/a	n/a
38	MAX	chr11:71158640-71160437	K562	blood:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
39	POLR2A	chr11:71158790-71158873	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:71158301-71158865	HepG2	liver:	n/a	n/a
41	MAX	chr11:71158618-71160479	MCF-7	breast:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
42	MXI1	chr11:71158250-71161741	SK-N-SH	brain:	n/a	chr11:71159719-71159728 chr11:71159721-71159730 chr11:71159719-71159728
43	RCOR1	chr11:71158713-71160338	K562	blood:	n/a	n/a
44	MAX	chr11:71158712-71160405	ECC-1	luminal epithelium:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
45	POLR2A	chr11:71158738-71160005	H1-neurons	neurons:	n/a	n/a
46	SIN3AK20	chr11:71158725-71160246	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr11:71158577-71158892	ProgFib	skin:	n/a	n/a
48	POLR2A	chr11:71158727-71160191	ECC-1	luminal epithelium:	n/a	n/a
49	MAX	chr11:71158356-71160499	MCF-7	breast:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
50	SIN3AK20	chr11:71158806-71159176	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71158745..71161047-chr14:24656517..24659263,2	MCF-7	breast:
2	chr11:71150692..71153685-chr11:71157371..71159231,2	K562	blood:
3	chr11:70805722..70807297-chr11:71158455..71160766,2	MCF-7	breast:
4	chr11:71156994..71165841-chr11:71185066..71202614,31	MCF-7	breast:
5	chr11:71157940..71161417-chr11:71161465..71165970,9	K562	blood:

Variant related genes	Relation type
ENSG00000254682	TF binding region
ENSG00000196497	Chromatin interaction
ENSG00000172893	Chromatin interaction
ENSG00000172890	Chromatin interaction
ENSG00000162105	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10160376	1.00[EUR][1000 genomes]
rs10160536	1.00[EUR][1000 genomes]
rs10450661	1.00[EUR][1000 genomes]
rs10466698	1.00[EUR][1000 genomes]
rs10466717	1.00[EUR][1000 genomes]
rs11233662	1.00[EUR][1000 genomes]
rs11233679	1.00[EUR][1000 genomes]
rs11233754	1.00[EUR][1000 genomes]
rs11233871	1.00[EUR][1000 genomes]
rs11233901	1.00[EUR][1000 genomes]
rs11233950	1.00[EUR][1000 genomes]
rs11234008	1.00[EUR][1000 genomes]
rs11234009	1.00[EUR][1000 genomes]
rs12270619	1.00[EUR][1000 genomes]
rs12271661	1.00[EUR][1000 genomes]
rs12271894	1.00[EUR][1000 genomes]
rs12271996	1.00[EUR][1000 genomes]
rs12272475	1.00[EUR][1000 genomes]
rs12272819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274022	1.00[EUR][1000 genomes]
rs12274073	1.00[EUR][1000 genomes]
rs12274363	1.00[EUR][1000 genomes]
rs12275637	1.00[EUR][1000 genomes]
rs12277617	1.00[EUR][1000 genomes]
rs12277693	1.00[EUR][1000 genomes]
rs12278475	1.00[EUR][1000 genomes]
rs12280295	1.00[EUR][1000 genomes]
rs12281892	1.00[EUR][1000 genomes]
rs12282060	1.00[EUR][1000 genomes]
rs12283407	1.00[EUR][1000 genomes]
rs12283656	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285168	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12285189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285333	1.00[EUR][1000 genomes]
rs12285566	1.00[EUR][1000 genomes]
rs12286197	1.00[EUR][1000 genomes]
rs12286997	1.00[EUR][1000 genomes]
rs12289365	1.00[EUR][1000 genomes]
rs12289373	1.00[EUR][1000 genomes]
rs12291219	1.00[EUR][1000 genomes]
rs12292886	1.00[EUR][1000 genomes]
rs12293132	1.00[EUR][1000 genomes]
rs12294879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12295554	1.00[EUR][1000 genomes]
rs17161531	1.00[EUR][1000 genomes]
rs2298775	1.00[EUR][1000 genomes]
rs28468070	1.00[EUR][1000 genomes]
rs28481909	1.00[EUR][1000 genomes]
rs28655145	1.00[EUR][1000 genomes]
rs3794059	1.00[EUR][1000 genomes]
rs3794061	1.00[EUR][1000 genomes]
rs3814732	1.00[EUR][1000 genomes]
rs56012338	1.00[EUR][1000 genomes]
rs56044413	1.00[AMR][1000 genomes]
rs56120850	1.00[EUR][1000 genomes]
rs58884740	1.00[EUR][1000 genomes]
rs59553442	1.00[EUR][1000 genomes]
rs59601821	1.00[EUR][1000 genomes]
rs61440863	1.00[EUR][1000 genomes]
rs61663342	1.00[EUR][1000 genomes]
rs6592104	1.00[EUR][1000 genomes]
rs73530502	1.00[EUR][1000 genomes]
rs7950991	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 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	chr11:71158000-71159000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:71158000-71159000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
3	chr11:71158000-71159000	Flanking Active TSS	Brain Substantia Nigra	brain
4	chr11:71158000-71159000	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr11:71158000-71159200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr11:71158000-71161000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:71158000-71161000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:71158200-71159000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr11:71158200-71159000	Flanking Active TSS	Liver	Liver
10	chr11:71158200-71159000	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr11:71158200-71159000	Flanking Active TSS	Hela-S3	cervix
12	chr11:71158200-71159000	Flanking Active TSS	HUVEC	blood vessel
13	chr11:71158200-71159000	Flanking Active TSS	NH-A	brain
14	chr11:71158200-71159000	Flanking Active TSS	Osteobl	bone
15	chr11:71158200-71159200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr11:71158200-71159200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr11:71158200-71159200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr11:71158200-71160200	Active TSS	HSMMtube	muscle
19	chr11:71158400-71159000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:71158400-71159000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:71158400-71159000	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr11:71158400-71159000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:71158400-71159000	Enhancers	Fetal Heart	heart
24	chr11:71158400-71159000	Flanking Active TSS	Fetal Intestine Large	intestine
25	chr11:71158400-71159000	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr11:71158400-71159000	Flanking Active TSS	Stomach Mucosa	stomach
27	chr11:71158400-71159000	Flanking Active TSS	NHLF	lung
28	chr11:71158400-71159600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:71158400-71160000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:71158400-71160200	Bivalent/Poised TSS	HepG2	liver
31	chr11:71158400-71160400	Active TSS	HSMM	muscle
32	chr11:71158400-71160600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:71158400-71160600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr11:71158400-71160800	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr11:71158400-71160800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:71158400-71160800	Active TSS	Rectal Smooth Muscle	rectum
37	chr11:71158400-71161200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:71158400-71161200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:71158400-71161400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:71158600-71159000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:71158600-71159000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:71158600-71159000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:71158600-71159000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:71158600-71159000	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr11:71158600-71159000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr11:71158600-71159000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:71158600-71159000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr11:71158600-71159000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:71158600-71159000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr11:71158600-71159000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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