Variant report

Variant	rs12276164
Chromosome Location	chr11:71760003-71760004
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	FOXP2	chr11:71759821-71760064	PFSK-1	brain:	n/a	n/a
2	FOXA1	chr11:71759818-71760262	HepG2	liver:	n/a	n/a
3	GATA3	chr11:71759726-71760530	T-47D	breast:	n/a	n/a
4	FOXA1	chr11:71759839-71760225	HepG2	liver:	n/a	n/a
5	EP300	chr11:71759938-71760581	T-47D	breast:	n/a	n/a
6	ESR1	chr11:71759809-71760437	T-47D	breast:	n/a	n/a
7	FOXA1	chr11:71759741-71760438	T-47D	breast:	n/a	n/a
8	FOXA1	chr11:71759866-71760094	HepG2	liver:	n/a	n/a
9	FOXA2	chr11:71759819-71760098	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:71759767-71760084	HUVEC	blood vessel:	n/a	n/a
11	FOXA1	chr11:71759718-71760219	HepG2	liver:	n/a	n/a
12	GATA3	chr11:71759711-71760564	T-47D	breast:	n/a	n/a
13	FOXA1	chr11:71759781-71760459	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:

Variant related genes	Relation type
RNU6-292P	TF binding region
ENSG00000212089	Chromatin interaction
ENSG00000263742	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000137497	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11235419	1.00[AMR][1000 genomes]
rs11235424	1.00[AMR][1000 genomes]
rs11235425	1.00[AMR][1000 genomes]
rs12274520	1.00[AMR][1000 genomes]
rs12292778	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71753200-71772800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:71753200-71773000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:71753400-71765800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:71753400-71769800	Weak transcription	Psoas Muscle	Psoas
5	chr11:71753800-71760200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:71753800-71764600	Weak transcription	HSMM	muscle
7	chr11:71754000-71767200	Weak transcription	Small Intestine	intestine
8	chr11:71754000-71769600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:71754000-71769600	Weak transcription	NH-A	brain
10	chr11:71754000-71769600	Weak transcription	NHLF	lung
11	chr11:71754000-71769600	Weak transcription	Osteobl	bone
12	chr11:71754000-71771400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:71754000-71772000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:71754200-71769400	Weak transcription	HMEC	breast
15	chr11:71754200-71769400	Weak transcription	NHDF-Ad	bronchial
16	chr11:71754200-71769400	Weak transcription	NHEK	skin
17	chr11:71754200-71769600	Weak transcription	HSMMtube	muscle
18	chr11:71754200-71771000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:71754200-71772800	Weak transcription	Lung	lung
20	chr11:71754200-71777400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:71754200-71777600	Weak transcription	Brain Germinal Matrix	brain
22	chr11:71754200-71777600	Weak transcription	Colonic Mucosa	Colon
23	chr11:71754200-71777800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:71754200-71780200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:71754200-71780400	Weak transcription	Aorta	Aorta
26	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain
27	chr11:71754400-71761600	Weak transcription	Fetal Heart	heart
28	chr11:71754800-71781000	Weak transcription	Fetal Intestine Large	intestine
29	chr11:71755000-71780800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr11:71755200-71780400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:71755400-71765400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:71755400-71783000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:71755800-71778000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:71756000-71760600	Strong transcription	Thymus	Thymus
35	chr11:71756000-71762200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:71756000-71767400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:71756200-71760600	Enhancers	Adipose Nuclei	Adipose
38	chr11:71756200-71763600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:71756200-71768200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr11:71756200-71783200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:71756400-71760400	Strong transcription	Fetal Thymus	thymus
42	chr11:71756400-71761400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:71756400-71762600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:71756400-71764000	Strong transcription	Hela-S3	cervix
45	chr11:71756400-71768000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr11:71756600-71770600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:71757000-71760400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:71757000-71783200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:71757200-71777600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr11:71757400-71772800	Weak transcription	Fetal Muscle Trunk	muscle

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