Variant report

Variant	rs6675490
Chromosome Location	chr1:84793743-84793744
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11805246	1.00[ASN][1000 genomes]
rs11805854	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131595	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17131613	1.00[ASN][1000 genomes]
rs6670075	1.00[ASN][1000 genomes]
rs6675493	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72942067	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72942085	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72942086	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521357	1.00[ASN][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:27 , 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	chr1:84787600-84793800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:84787600-84796000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:84789000-84795200	Weak transcription	Aorta	Aorta
6	chr1:84789600-84795400	Weak transcription	Brain Angular Gyrus	brain
7	chr1:84789800-84797200	Weak transcription	Fetal Stomach	stomach
8	chr1:84790200-84795400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:84790600-84795800	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr1:84790800-84796400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:84791200-84794800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:84791200-84794800	Weak transcription	Pancreas	Pancrea
13	chr1:84791200-84795800	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr1:84791600-84794600	Strong transcription	Primary hematopoietic stem cells	blood
15	chr1:84792000-84794000	Weak transcription	Colonic Mucosa	Colon
16	chr1:84792200-84795200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:84792200-84795600	Weak transcription	Brain Substantia Nigra	brain
18	chr1:84792200-84797800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:84792400-84795400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:84792400-84795800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:84792400-84797200	Weak transcription	Fetal Intestine Large	intestine
22	chr1:84792800-84795000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:84793000-84798800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:84793200-84794400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:84793200-84796000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:84793200-84796800	Weak transcription	Fetal Intestine Small	intestine
27	chr1:84793200-84797200	Weak transcription	Brain Hippocampus Middle	brain

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