Variant report

Variant	rs58987681
Chromosome Location	chr1:168665616-168665617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168663774..168665860-chr1:168668425..168670512,2	K562	blood:

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

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

rs_ID	r²[population]
rs12401569	1.00[EUR][1000 genomes]
rs12401592	1.00[EUR][1000 genomes]
rs12403860	1.00[EUR][1000 genomes]
rs12411200	1.00[EUR][1000 genomes]
rs35915405	1.00[EUR][1000 genomes]
rs56168358	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58493284	1.00[EUR][1000 genomes]
rs60429525	1.00[EUR][1000 genomes]
rs73032003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74121379	1.00[EUR][1000 genomes]
rs74121380	1.00[EUR][1000 genomes]
rs74122718	1.00[EUR][1000 genomes]
rs74122750	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122754	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122773	1.00[EUR][1000 genomes]
rs999310	1.00[EUR][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	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr1:168659400-168669400	Weak transcription	Small Intestine	intestine
2	chr1:168660000-168665800	Enhancers	HepG2	liver
3	chr1:168661800-168666200	Enhancers	Colon Smooth Muscle	Colon
4	chr1:168663000-168666200	Enhancers	Fetal Stomach	stomach
5	chr1:168663000-168666400	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:168663200-168669600	Weak transcription	Liver	Liver
7	chr1:168664000-168669400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:168664000-168669600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:168664600-168667600	Enhancers	Fetal Intestine Small	intestine
10	chr1:168664800-168665800	Enhancers	Fetal Muscle Leg	muscle
11	chr1:168664800-168666000	Enhancers	Fetal Intestine Large	intestine
12	chr1:168664800-168666200	Enhancers	Stomach Smooth Muscle	stomach
13	chr1:168665000-168666000	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr1:168665000-168666200	Enhancers	Fetal Lung	lung
15	chr1:168665200-168667000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:168665400-168666600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:168665400-168669800	Weak transcription	Adipose Nuclei	Adipose
18	chr1:168665400-168669800	Weak transcription	Stomach Mucosa	stomach
19	chr1:168665600-168666200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:168665600-168666200	Enhancers	Fetal Kidney	kidney
21	chr1:168665600-168667200	Weak transcription	Pancreas	Pancrea
22	chr1:168665600-168668600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:168665600-168673200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:168665600-168677600	Weak transcription	Fetal Heart	heart

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