Variant report

Variant	rs56801020
Chromosome Location	chr2:152226512-152226513
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	chr2:152218967..152221032-chr2:152225243..152227946,2	K562	blood:
2	chr2:152219402..152222662-chr2:152225387..152228102,3	K562	blood:

Variant related genes	Relation type
ENSG00000123610	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10171306	0.91[ASN][1000 genomes]
rs10173695	1.00[AMR][1000 genomes]
rs10179626	1.00[AMR][1000 genomes]
rs10180428	1.00[AMR][1000 genomes]
rs10190464	1.00[AMR][1000 genomes]
rs10191465	1.00[AMR][1000 genomes]
rs10193304	1.00[AMR][1000 genomes]
rs10195365	1.00[AMR][1000 genomes]
rs10201647	1.00[AMR][1000 genomes]
rs10202368	1.00[AMR][1000 genomes]
rs10203338	1.00[AMR][1000 genomes]
rs10205770	1.00[AMR][1000 genomes]
rs10205976	1.00[AMR][1000 genomes]
rs10206584	1.00[AMR][1000 genomes]
rs10210009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12328054	1.00[AMR][1000 genomes]
rs12328381	1.00[AMR][1000 genomes]
rs12328560	1.00[AMR][1000 genomes]
rs13383657	1.00[AMR][1000 genomes]
rs13385932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13387765	1.00[AMR][1000 genomes]
rs13389056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13389461	1.00[AMR][1000 genomes]
rs13390792	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13394505	1.00[AMR][1000 genomes]
rs13395395	1.00[AMR][1000 genomes]
rs13395749	1.00[AMR][1000 genomes]
rs13399299	1.00[AMR][1000 genomes]
rs13402903	0.97[ASN][1000 genomes]
rs13404713	1.00[AMR][1000 genomes]
rs13408667	1.00[AMR][1000 genomes]
rs13408684	1.00[AMR][1000 genomes]
rs13411396	1.00[AMR][1000 genomes]
rs13412493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13412781	1.00[AMR][1000 genomes]
rs13417120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13418019	1.00[AMR][1000 genomes]
rs13418799	1.00[AMR][1000 genomes]
rs13420365	1.00[AMR][1000 genomes]
rs13423692	1.00[AMR][1000 genomes]
rs13426840	1.00[AMR][1000 genomes]
rs2303341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2303342	1.00[ASN][1000 genomes]
rs28445248	1.00[AMR][1000 genomes]
rs28493579	1.00[AMR][1000 genomes]
rs28529741	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3771894	1.00[ASN][1000 genomes]
rs3771899	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59089077	1.00[AMR][1000 genomes]
rs59356545	1.00[AMR][1000 genomes]
rs59379773	1.00[ASN][1000 genomes]
rs60398514	0.97[ASN][1000 genomes]
rs6719796	1.00[AMR][1000 genomes]
rs6724871	1.00[AMR][1000 genomes]
rs6747290	1.00[AMR][1000 genomes]
rs9989812	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152215000-152237600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:152215400-152230600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:152215600-152228000	Weak transcription	Fetal Stomach	stomach
4	chr2:152215600-152230000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:152215800-152228200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:152216800-152239400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:152218800-152230400	Weak transcription	NHDF-Ad	bronchial
8	chr2:152218800-152240600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:152222600-152227200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:152223600-152230600	Weak transcription	NHLF	lung
11	chr2:152224600-152230400	Weak transcription	Osteobl	bone
12	chr2:152224800-152227200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:152224800-152230200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:152224800-152230400	Weak transcription	NH-A	brain
15	chr2:152225000-152230200	Weak transcription	HSMM	muscle
16	chr2:152225400-152227400	Strong transcription	Fetal Muscle Leg	muscle
17	chr2:152225600-152232200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:152226200-152230600	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:152226200-152239000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:152226400-152228200	Strong transcription	Monocytes-CD14+_RO01746	blood

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