Variant report

Variant	rs12792283
Chromosome Location	chr11:76447062-76447063
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:76445248..76448071-chr11:76628717..76631883,4	MCF-7	breast:
2	chr11:76446515..76448277-chr11:76483918..76485534,2	MCF-7	breast:
3	chr11:76445987..76448531-chr11:76494334..76496063,4	MCF-7	breast:
4	chr11:76446403..76452318-chr11:76452779..76457589,9	K562	blood:
5	chr11:76446132..76447728-chr11:76448521..76450951,2	K562	blood:
6	chr11:76447052..76448597-chr11:76481342..76483373,2	K562	blood:
7	chr11:76443783..76447678-chr11:76493146..76497317,7	MCF-7	breast:
8	chr11:76445009..76450493-chr11:76452594..76458852,7	K562	blood:
9	chr11:76444941..76447137-chr11:76494986..76497317,3	K562	blood:
10	chr11:76444817..76447367-chr11:76477489..76481018,3	MCF-7	breast:
11	chr11:76445665..76448359-chr11:76459229..76461438,2	K562	blood:
12	chr11:76445752..76447427-chr11:76492585..76495456,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254632	Chromatin interaction
ENSG00000255100	Chromatin interaction
ENSG00000182704	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11822653	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11826943	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362105	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12794131	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12798095	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801851	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12802806	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17812296	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28428842	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34885552	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35714835	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55698208	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55920167	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55933713	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56203693	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56224101	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56274763	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56335423	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57042533	0.96[ASN][1000 genomes]
rs57847352	0.96[ASN][1000 genomes]
rs60543719	0.96[ASN][1000 genomes]
rs61621849	0.96[ASN][1000 genomes]
rs7103917	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7108890	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7122848	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123238	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943760	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7944011	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv1850014	chr11:76384895-76464814	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv976471	chr11:76435262-76459660	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv430404	chr11:76436952-76462852	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 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	chr11:76433400-76456400	Weak transcription	Right Atrium	heart
2	chr11:76441400-76450200	Weak transcription	Liver	Liver
3	chr11:76445200-76448000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr11:76445200-76448800	Enhancers	A549	lung
5	chr11:76445400-76448000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:76445600-76447200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:76445600-76447200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:76445600-76447400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:76445600-76447800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr11:76445600-76448200	Enhancers	Placenta	Placenta
11	chr11:76445600-76450600	Enhancers	Fetal Heart	heart
12	chr11:76445800-76447200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:76445800-76448000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:76445800-76449200	Enhancers	Fetal Brain Male	brain
15	chr11:76446000-76447200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:76446000-76447800	Enhancers	Fetal Brain Female	brain
17	chr11:76446000-76448000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:76446000-76448000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:76446000-76450400	Enhancers	Fetal Muscle Leg	muscle
20	chr11:76446200-76447200	Weak transcription	Fetal Intestine Small	intestine
21	chr11:76446200-76447400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:76446200-76447400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr11:76446200-76449000	Weak transcription	Fetal Thymus	thymus
24	chr11:76446400-76447200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:76446400-76447200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:76446400-76448800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:76446400-76463200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:76446600-76447600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:76446800-76447400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:76446800-76447400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr11:76446800-76447400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr11:76446800-76447600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chr11:76446800-76447800	Weak transcription	Spleen	Spleen
34	chr11:76446800-76448000	Weak transcription	Adipose Nuclei	Adipose
35	chr11:76446800-76448400	Enhancers	Fetal Intestine Large	intestine
36	chr11:76447000-76447200	Enhancers	K562	blood
37	chr11:76447000-76447800	Bivalent Enhancer	HepG2	liver
38	chr11:76447000-76449200	Weak transcription	Right Ventricle	heart

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