Variant report

Variant	rs7009945
Chromosome Location	chr8:122648553-122648554
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	POLR2A	chr8:122645249-122654754	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122645820..122648562-chr8:122650430..122652589,2	MCF-7	breast:
2	chr8:122642943..122644670-chr8:122646262..122648578,2	MCF-7	breast:

Variant related genes	Relation type
HAS2-AS1	TF binding region
ENSG00000248690	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10086278	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10089014	0.80[ASN][1000 genomes]
rs10094125	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10097083	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10102290	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11780881	0.84[ASN][1000 genomes]
rs11781907	0.80[ASN][1000 genomes]
rs11784137	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11992999	0.80[ASN][1000 genomes]
rs1871884	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2385924	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4255143	0.80[ASN][1000 genomes]
rs4437656	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4474031	0.80[ASN][1000 genomes]
rs4618701	0.84[ASN][1000 genomes]
rs4871210	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62524931	0.80[ASN][1000 genomes]
rs62524932	0.80[ASN][1000 genomes]
rs62524935	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62524936	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6651224	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6984484	0.80[ASN][1000 genomes]
rs6984839	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6998348	0.80[ASN][1000 genomes]
rs7016481	0.80[ASN][1000 genomes]
rs7016956	0.80[ASN][1000 genomes]
rs7817920	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7834455	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7834907	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7837322	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][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	nsv1033501	chr8:122436332-122758651	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831446	chr8:122535039-122711959	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122627400-122649800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:122632000-122648800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:122639200-122651400	Weak transcription	Brain Anterior Caudate	brain
4	chr8:122642600-122650800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:122644000-122651400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:122644200-122650600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:122644400-122650800	Weak transcription	Fetal Stomach	stomach
8	chr8:122644400-122651200	Weak transcription	Brain Substantia Nigra	brain
9	chr8:122644400-122651400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:122644600-122649800	Weak transcription	NH-A	brain
11	chr8:122644600-122650800	Weak transcription	A549	lung
12	chr8:122644600-122651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:122644600-122651200	Weak transcription	HSMMtube	muscle
14	chr8:122645200-122651200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:122646400-122651800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:122646600-122648600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:122647600-122649200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:122647800-122648600	Flanking Active TSS	NHLF	lung
19	chr8:122647800-122649200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
20	chr8:122647800-122649200	Transcr. at gene 5' and 3'	Osteobl	bone
21	chr8:122648000-122648600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:122648000-122648600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:122648000-122648800	Flanking Active TSS	Fetal Lung	lung
24	chr8:122648000-122649200	Transcr. at gene 5' and 3'	HSMM	muscle
25	chr8:122648200-122648800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:122648200-122650000	Enhancers	Fetal Muscle Leg	muscle
27	chr8:122648400-122648600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:122648400-122648600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:122648400-122648600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:122648400-122648800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:122648400-122648800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:122648400-122648800	Weak transcription	Fetal Kidney	kidney
33	chr8:122648400-122649000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:122648400-122649200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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