Variant report

Variant	rs1116146
Chromosome Location	chr1:185980644-185980645
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185974978..185977971-chr1:185978048..185981711,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10047250	0.91[EUR][1000 genomes]
rs10157843	0.91[EUR][1000 genomes]
rs10911784	0.91[EUR][1000 genomes]
rs11576597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11580879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11581389	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11586768	0.91[EUR][1000 genomes]
rs11586771	0.91[EUR][1000 genomes]
rs11589455	1.00[EUR][1000 genomes]
rs12059676	0.91[EUR][1000 genomes]
rs12062879	0.91[EUR][1000 genomes]
rs12068829	0.91[EUR][1000 genomes]
rs12073492	0.91[EUR][1000 genomes]
rs12077084	1.00[EUR][1000 genomes]
rs12088513	0.91[EUR][1000 genomes]
rs12094899	0.91[EUR][1000 genomes]
rs1322361	0.91[EUR][1000 genomes]
rs1407427	0.91[EUR][1000 genomes]
rs28535260	1.00[EUR][1000 genomes]
rs35875123	1.00[EUR][1000 genomes]
rs41317473	1.00[AMR][1000 genomes]
rs6425011	0.91[EUR][1000 genomes]
rs6662653	1.00[EUR][1000 genomes]
rs6675465	1.00[EUR][1000 genomes]
rs72718862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718864	0.91[EUR][1000 genomes]
rs72718865	0.91[EUR][1000 genomes]
rs72718867	0.91[EUR][1000 genomes]
rs72718875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72718888	1.00[AMR][1000 genomes]
rs72718900	0.83[AFR][1000 genomes];1.00[AMR][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185936600-185999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185938800-185990200	Weak transcription	Liver	Liver
3	chr1:185938800-185994600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:185939000-185986000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
6	chr1:185960200-185999000	Weak transcription	Fetal Lung	lung
7	chr1:185964200-186014800	Weak transcription	Lung	lung
8	chr1:185965800-185983200	Weak transcription	NHDF-Ad	bronchial
9	chr1:185972200-185983600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:185978600-185983600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:185978800-185981800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:185978800-185982800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:185978800-185983000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:185978800-185983200	Weak transcription	NH-A	brain
15	chr1:185979200-185982800	Weak transcription	Osteobl	bone
16	chr1:185979200-185983800	Weak transcription	HUVEC	blood vessel
17	chr1:185979200-185992800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:185979200-186003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:185979400-185985000	Weak transcription	Left Ventricle	heart
20	chr1:185979400-186003200	Weak transcription	Aorta	Aorta
21	chr1:185980600-185981000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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