Variant report

Variant	rs73085842
Chromosome Location	chr4:8348440-8348441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8346988..8348504-chr4:8352358..8355226,2	K562	blood:
2	chr4:8347622..8350029-chr4:8351308..8354631,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1111639	0.82[EUR][1000 genomes]
rs34600077	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35668769	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv878605	chr4:8332057-8378959	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8342000-8348800	Enhancers	Fetal Muscle Leg	muscle
2	chr4:8342800-8348800	Weak transcription	Spleen	Spleen
3	chr4:8342800-8352800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:8344600-8352800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:8344600-8354000	Weak transcription	Left Ventricle	heart
6	chr4:8345800-8353000	Weak transcription	Right Atrium	heart
7	chr4:8346400-8348800	Weak transcription	Right Ventricle	heart
8	chr4:8346400-8349400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:8346400-8349800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:8346400-8351600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:8346800-8352800	Weak transcription	HSMMtube	muscle
12	chr4:8347600-8348600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:8347600-8348600	Enhancers	Ovary	ovary
14	chr4:8348000-8349200	Enhancers	Brain Hippocampus Middle	brain
15	chr4:8348000-8349200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr4:8348200-8349000	Enhancers	Brain Anterior Caudate	brain
17	chr4:8348200-8349000	Enhancers	Fetal Heart	heart
18	chr4:8348200-8349400	Enhancers	Brain Angular Gyrus	brain
19	chr4:8348200-8349600	Enhancers	Brain Cingulate Gyrus	brain
20	chr4:8348400-8348600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr4:8348400-8349000	Enhancers	Brain Substantia Nigra	brain
22	chr4:8348400-8349000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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