Variant report

Variant	rs2017633
Chromosome Location	chr1:168738130-168738131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10157677	0.83[AMR][1000 genomes]
rs10918977	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10918978	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10918980	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11577775	0.98[EUR][1000 genomes]
rs12065661	0.91[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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168730400-168743600	Weak transcription	Psoas Muscle	Psoas
2	chr1:168734200-168739200	Enhancers	Fetal Lung	lung
3	chr1:168735600-168739200	Enhancers	Fetal Heart	heart
4	chr1:168736200-168741800	Weak transcription	Stomach Mucosa	stomach
5	chr1:168736200-168743000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:168736800-168738600	Enhancers	Colon Smooth Muscle	Colon
7	chr1:168737000-168738200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:168737000-168738600	Enhancers	Fetal Muscle Leg	muscle
9	chr1:168737000-168738800	Enhancers	Fetal Stomach	stomach
10	chr1:168737200-168738200	Enhancers	Left Ventricle	heart
11	chr1:168737200-168738800	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr1:168737200-168740400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:168737400-168738800	Enhancers	Brain Germinal Matrix	brain
14	chr1:168737400-168738800	Enhancers	Fetal Brain Male	brain
15	chr1:168737600-168741000	Weak transcription	Liver	Liver
16	chr1:168737800-168741200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:168737800-168741800	Weak transcription	Adipose Nuclei	Adipose
18	chr1:168737800-168741800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:168737800-168741800	Weak transcription	HepG2	liver
20	chr1:168738000-168738400	Enhancers	Fetal Muscle Trunk	muscle
21	chr1:168738000-168741200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:168738000-168742800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:168738000-168743000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:168738000-168743400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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