Variant report

Variant	rs1990579
Chromosome Location	chr7:78103384-78103385
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	chr7:78099297..78101334-chr7:78102947..78104837,2	K562	blood:
2	chr7:78096180..78099029-chr7:78101096..78103998,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10241266	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10257012	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10485898	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11763843	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12705479	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12705480	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6466241	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6466242	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6651114	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7794954	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7806044	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7808641	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9691175	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9886106	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr7:78099600-78104400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:78099800-78106200	Weak transcription	Brain Angular Gyrus	brain
3	chr7:78101200-78103400	Enhancers	NHDF-Ad	bronchial
4	chr7:78101400-78103400	Enhancers	Osteobl	bone
5	chr7:78101800-78105600	Enhancers	Brain Anterior Caudate	brain
6	chr7:78102000-78103400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:78102000-78103600	Enhancers	Brain Hippocampus Middle	brain
8	chr7:78102200-78108200	Weak transcription	Ovary	ovary
9	chr7:78102600-78103400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:78102600-78103800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:78102600-78105000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:78102600-78106400	Weak transcription	HSMMtube	muscle
13	chr7:78103000-78103400	Enhancers	NHLF	lung
14	chr7:78103000-78103600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:78103000-78103600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:78103000-78103800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:78103000-78117600	Weak transcription	Fetal Brain Female	brain
18	chr7:78103200-78103400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:78103200-78103600	Flanking Active TSS	Fetal Heart	heart
20	chr7:78103200-78103800	Enhancers	Psoas Muscle	Psoas
21	chr7:78103200-78105000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:78103200-78105800	Weak transcription	HSMM	muscle
23	chr7:78103200-78106000	Weak transcription	Brain Substantia Nigra	brain

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