Variant report

Variant	rs12705448
Chromosome Location	chr7:107941711-107941712
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:107939868..107942167-chr7:107945482..107947094,2	MCF-7	breast:
2	chr7:107940207..107942755-chr7:107985046..107987339,2	MCF-7	breast:
3	chr7:107840057..107842255-chr7:107937956..107941774,3	MCF-7	breast:
4	chr7:107940013..107942705-chr7:108208035..108210155,2	K562	blood:
5	chr7:107938387..107941926-chr7:108096111..108098470,4	MCF-7	breast:
6	chr7:107842097..107844084-chr7:107941561..107943071,2	MCF-7	breast:
7	chr7:107925805..107928742-chr7:107940005..107942470,2	K562	blood:
8	chr7:107936793..107941797-chr7:107984945..107993863,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177683	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000091129	Chromatin interaction
ENSG00000128590	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1016148	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10487850	0.94[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10953563	0.94[CEU][hapmap];0.82[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11763042	0.89[CEU][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11769966	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12538050	0.94[CEU][hapmap];0.87[AMR][1000 genomes]
rs12673082	0.81[CEU][hapmap]
rs12673676	0.82[CEU][hapmap]
rs13221333	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13242951	0.88[CEU][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13243381	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16872495	0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17155485	0.94[CEU][hapmap];0.86[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17155518	0.94[CEU][hapmap];0.83[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17155522	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2098419	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2190405	0.84[CEU][hapmap]
rs2300012	0.84[CEU][hapmap]
rs2300024	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2300030	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34025892	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4142283	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6956163	0.94[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7778203	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs969708	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1030425	chr7:107910716-108041036	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1019059	chr7:107935905-107995523	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1021783	chr7:107935905-107998281	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv2761354	chr7:107935905-107998293	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1031824	chr7:107935905-108006038	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1017288	chr7:107939739-108000837	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107925400-107952000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:107931000-107947400	Weak transcription	Fetal Brain Female	brain
3	chr7:107932000-107950600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:107933400-107942800	Weak transcription	Brain Angular Gyrus	brain
5	chr7:107933600-107947400	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:107935200-107947000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:107935400-107950600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:107936600-107946800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:107938000-107942600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:107939600-107942800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:107940000-107943600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:107940200-107947400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:107940400-107942000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:107940400-107947600	Weak transcription	Brain Substantia Nigra	brain
15	chr7:107940400-107964400	Weak transcription	Pancreas	Pancrea
16	chr7:107940600-107943200	Enhancers	A549	lung
17	chr7:107940600-107945400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:107940600-107945600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:107940600-107945800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:107940600-107945800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:107940600-107945800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:107941000-107943200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:107941600-107942800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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