Variant report

Variant	rs72685391
Chromosome Location	chr1:78487615-78487616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78484921..78487843-chr1:78526305..78528033,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17101048	0.91[ASN][1000 genomes]
rs17101052	0.91[ASN][1000 genomes]
rs17101082	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17101109	0.96[ASN][1000 genomes]
rs2296455	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28362659	1.00[ASN][1000 genomes]
rs28362660	1.00[ASN][1000 genomes]
rs34128192	1.00[ASN][1000 genomes]
rs3767026	0.93[ASN][1000 genomes]
rs3767027	0.93[ASN][1000 genomes]
rs59087988	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72685370	0.82[AMR][1000 genomes]
rs72685371	0.82[AMR][1000 genomes]
rs72685373	0.82[AMR][1000 genomes]
rs72685374	0.82[AMR][1000 genomes]
rs72685376	0.82[AMR][1000 genomes]
rs72685382	0.82[AMR][1000 genomes]
rs72685386	0.82[AMR][1000 genomes]
rs72685398	0.82[AMR][1000 genomes]
rs72687103	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	esv1801396	chr1:78468094-78492221	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78448800-78488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:78470800-78487800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:78475200-78495600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:78475800-78487800	Weak transcription	Psoas Muscle	Psoas
5	chr1:78475800-78491400	Weak transcription	Ovary	ovary
6	chr1:78477000-78488400	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:78477400-78494000	Weak transcription	Aorta	Aorta
8	chr1:78479400-78493800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:78481000-78490800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:78481000-78492000	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:78482200-78489000	Weak transcription	Fetal Lung	lung
12	chr1:78482400-78498800	Weak transcription	K562	blood
13	chr1:78482800-78488000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:78483600-78487800	Weak transcription	NHDF-Ad	bronchial
15	chr1:78484000-78494600	Weak transcription	HUVEC	blood vessel
16	chr1:78485000-78488000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:78485000-78490800	Weak transcription	Right Ventricle	heart
18	chr1:78485000-78504000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:78485200-78488200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:78485200-78491400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:78485400-78504200	Weak transcription	NH-A	brain
22	chr1:78485600-78491800	Weak transcription	HSMMtube	muscle
23	chr1:78486400-78509400	Weak transcription	HSMM	muscle

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