Variant report

Variant	rs769895
Chromosome Location	chr1:55946321-55946322
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1321119	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs183065	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs189593	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs356089	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356114	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs356115	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs356116	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs356117	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs356120	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs397876	0.82[AMR][1000 genomes]
rs418333	0.82[AMR][1000 genomes]
rs440336	0.82[AMR][1000 genomes]
rs692758	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1008241	chr1:55922008-55972596	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:55940000-55950000	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:55940400-55946600	Weak transcription	Osteobl	bone
3	chr1:55941000-55946800	Enhancers	Fetal Intestine Large	intestine
4	chr1:55942000-55946800	Enhancers	Fetal Intestine Small	intestine
5	chr1:55943600-55946400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:55944000-55946800	Enhancers	HepG2	liver
7	chr1:55944200-55950600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:55944800-55947000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:55945000-55946400	Weak transcription	HSMM	muscle
10	chr1:55945000-55946800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:55945000-55950200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:55945200-55950000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:55945400-55946400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr1:55945600-55947600	Enhancers	NHDF-Ad	bronchial
15	chr1:55945800-55946600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:55945800-55946800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:55945800-55947000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:55945800-55947600	Enhancers	Fetal Kidney	kidney
19	chr1:55945800-55947800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:55946000-55946600	Enhancers	Pancreas	Pancrea
21	chr1:55946000-55947000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr1:55946000-55947400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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