Variant report

Variant	rs6701213
Chromosome Location	chr1:84796969-84796970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17131581	1.00[EUR][1000 genomes]
rs17131592	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131600	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131611	0.82[EUR][1000 genomes]
rs17131617	0.82[EUR][1000 genomes]
rs17131618	0.82[EUR][1000 genomes]
rs17131624	0.96[EUR][1000 genomes]
rs316626	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs399308	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55638637	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61671624	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84785800-84797800	Weak transcription	Gastric	stomach
2	chr1:84786600-84801600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:84789800-84797200	Weak transcription	Fetal Stomach	stomach
4	chr1:84792200-84797800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:84792400-84797200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:84793000-84798800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:84793200-84797200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:84794600-84800800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:84794800-84801600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:84795000-84797400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:84795800-84800800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:84795800-84827000	Weak transcription	Rectal Mucosa Donor 29	rectum

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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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