Variant report

Variant	rs1978322
Chromosome Location	chr7:78107750-78107751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10246338	0.98[ASN][1000 genomes]
rs10271232	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1861224	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978324	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1978325	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2885559	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4996260	0.97[EUR][1000 genomes]
rs60666886	0.95[ASN][1000 genomes]
rs62467106	0.98[ASN][1000 genomes]
rs62467107	0.98[ASN][1000 genomes]
rs62467115	0.95[ASN][1000 genomes]
rs759333	0.97[EUR][1000 genomes]
rs759335	0.97[EUR][1000 genomes]
rs7779732	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7789155	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975420	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78102200-78108200	Weak transcription	Ovary	ovary
2	chr7:78103000-78117600	Weak transcription	Fetal Brain Female	brain
3	chr7:78103400-78108600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:78103400-78108600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:78103800-78115600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:78104400-78116800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:78105600-78113800	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:78106200-78113200	Weak transcription	Brain Anterior Caudate	brain
9	chr7:78106400-78113600	Weak transcription	Brain Substantia Nigra	brain
10	chr7:78106600-78108000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:78106600-78108000	Weak transcription	Fetal Heart	heart
12	chr7:78106600-78108200	Weak transcription	Osteobl	bone
13	chr7:78106600-78108600	Weak transcription	HSMM	muscle
14	chr7:78106600-78114000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:78106600-78117000	Weak transcription	Brain Germinal Matrix	brain
16	chr7:78106800-78108200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:78107400-78108000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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