Variant report

Variant	rs60577845
Chromosome Location	chr11:120185792-120185793
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	NR2F2	chr11:120185664-120185915	K562	blood:	n/a	n/a
2	TAL1	chr11:120185627-120185966	K562	blood:	n/a	n/a
3	ZMIZ1	chr11:120185737-120185868	K562	blood:	n/a	n/a
4	GATA2	chr11:120185540-120185930	K562	blood:	n/a	n/a
5	ELF1	chr11:120185699-120185994	K562	blood:	n/a	chr11:120185860-120185869 chr11:120185859-120185870
6	TEAD4	chr11:120185571-120185916	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120106132..120109259-chr11:120185529..120190071,6	K562	blood:
2	chr11:120184537..120187273-chr11:120188454..120191625,4	K562	blood:
3	chr11:120179013..120183815-chr11:120184501..120187839,4	MCF-7	breast:
4	chr11:120175506..120178899-chr11:120185723..120187781,3	MCF-7	breast:
5	chr11:120173473..120178843-chr11:120183667..120189130,9	MCF-7	breast:

Variant related genes	Relation type
POU2F3	TF binding region
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56861657	1.00[AMR][1000 genomes]
rs57912743	1.00[AMR][1000 genomes]
rs59982630	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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120176400-120187400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:120177200-120187600	Weak transcription	Gastric	stomach
3	chr11:120177800-120187200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:120177800-120187400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:120178000-120187200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:120178000-120187400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:120178200-120187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:120178200-120187800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:120178400-120187400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:120179000-120187200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:120179200-120187200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:120179400-120187000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:120180400-120185800	Weak transcription	Esophagus	oesophagus
14	chr11:120182200-120187200	Weak transcription	Colonic Mucosa	Colon
15	chr11:120182400-120187000	Weak transcription	Stomach Mucosa	stomach
16	chr11:120182600-120187000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:120183800-120187000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:120183800-120187600	Weak transcription	Small Intestine	intestine
19	chr11:120184200-120187000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:120184800-120186200	Enhancers	Fetal Intestine Large	intestine
21	chr11:120185000-120186000	Enhancers	Fetal Intestine Small	intestine
22	chr11:120185000-120186000	Enhancers	HSMMtube	muscle
23	chr11:120185200-120187000	Weak transcription	NHEK	skin
24	chr11:120185400-120186000	Enhancers	Right Ventricle	heart
25	chr11:120185400-120186200	Enhancers	K562	blood
26	chr11:120185400-120186400	Enhancers	Right Atrium	heart
27	chr11:120185400-120186600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:120185400-120187800	Enhancers	Placenta	Placenta
29	chr11:120185400-120189000	Enhancers	Fetal Heart	heart
30	chr11:120185600-120186000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:120185600-120186000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:120185600-120186000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:120185600-120186000	Enhancers	Left Ventricle	heart
34	chr11:120185600-120186000	Enhancers	Lung	lung
35	chr11:120185600-120187000	Weak transcription	Fetal Lung	lung
36	chr11:120185600-120187000	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:120185600-120187200	Weak transcription	Fetal Stomach	stomach
38	chr11:120185600-120188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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