Variant report

Variant	rs12057977
Chromosome Location	chr1:168661649-168661650
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12090369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55875259	1.00[AMR][1000 genomes]
rs58913513	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61297554	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73033095	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv1001684	chr1:168636622-168663398	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv525556	chr1:168653857-168662352	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168658000-168662000	Enhancers	Pancreas	Pancrea
2	chr1:168658200-168662000	Weak transcription	Fetal Kidney	kidney
3	chr1:168658200-168662400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:168658200-168662800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:168658200-168663200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:168659400-168662800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:168659400-168662800	Weak transcription	Stomach Mucosa	stomach
8	chr1:168659400-168669400	Weak transcription	Small Intestine	intestine
9	chr1:168659600-168663800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:168659600-168663800	Weak transcription	Gastric	stomach
11	chr1:168659600-168664800	Weak transcription	Right Ventricle	heart
12	chr1:168659800-168663200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:168660000-168662000	Weak transcription	Fetal Intestine Large	intestine
14	chr1:168660000-168662400	Weak transcription	HSMM	muscle
15	chr1:168660000-168663000	Weak transcription	Fetal Stomach	stomach
16	chr1:168660000-168665800	Enhancers	HepG2	liver
17	chr1:168660400-168662200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:168660600-168665000	Weak transcription	Fetal Heart	heart
19	chr1:168660600-168665600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:168660800-168661800	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:168661000-168663000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:168661000-168663600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:168661000-168665000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:168661000-168665000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:168661600-168663200	Enhancers	Liver	Liver

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