Variant report

Variant	rs62148084
Chromosome Location	chr2:100829523-100829524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100828123..100832534-chr2:100834410..100837969,5	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17023655	1.00[AMR][1000 genomes]
rs17023659	1.00[ASN][1000 genomes]
rs17023710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023791	0.87[ASN][1000 genomes]
rs17023801	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023820	0.87[ASN][1000 genomes]
rs17023833	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148083	1.00[ASN][1000 genomes]
rs62148085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148086	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148087	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148088	1.00[ASN][1000 genomes]
rs62148089	1.00[ASN][1000 genomes]
rs62148090	1.00[ASN][1000 genomes]
rs62148092	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148093	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148094	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148095	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62149354	1.00[AMR][1000 genomes]
rs62150261	1.00[AMR][1000 genomes]
rs62150270	1.00[AMR][1000 genomes]
rs62150271	1.00[AMR][1000 genomes]
rs62150291	1.00[ASN][1000 genomes]
rs6735369	1.00[EUR][1000 genomes];1.00[ASN][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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100822200-100830200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:100822200-100830400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:100822400-100830200	Weak transcription	Lung	lung
4	chr2:100824400-100830400	Weak transcription	Right Atrium	heart
5	chr2:100825200-100830000	Weak transcription	Ovary	ovary
6	chr2:100825200-100832400	Weak transcription	Fetal Brain Female	brain
7	chr2:100825400-100830200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:100826400-100830200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:100826400-100832200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:100827800-100830400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:100827800-100832200	Enhancers	Psoas Muscle	Psoas
12	chr2:100827800-100832200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:100828600-100830200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:100828800-100830200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:100828800-100832400	Enhancers	Fetal Heart	heart
16	chr2:100829000-100831000	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:100829000-100831600	Enhancers	Placenta	Placenta
18	chr2:100829000-100832200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:100829000-100832400	Enhancers	Left Ventricle	heart
20	chr2:100829200-100831000	Enhancers	Liver	Liver
21	chr2:100829200-100832200	Enhancers	Aorta	Aorta
22	chr2:100829200-100832200	Enhancers	Fetal Muscle Leg	muscle
23	chr2:100829200-100832400	Enhancers	Right Ventricle	heart
24	chr2:100829200-100832800	Enhancers	Colon Smooth Muscle	Colon
25	chr2:100829400-100830400	Weak transcription	Gastric	stomach
26	chr2:100829400-100831400	Enhancers	Adipose Nuclei	Adipose
27	chr2:100829400-100831800	Enhancers	Fetal Lung	lung

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