Variant report

Variant	rs2621221
Chromosome Location	chr4:122662118-122662119
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2621218	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2706783	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240261	0.85[EUR][1000 genomes]
rs4342205	0.85[EUR][1000 genomes]
rs4370153	0.84[EUR][1000 genomes]
rs4496602	0.85[EUR][1000 genomes]
rs4629472	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6534317	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6534319	0.83[EUR][1000 genomes]
rs7665098	0.86[EUR][1000 genomes]
rs7690991	0.86[EUR][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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122657000-122662200	Weak transcription	Fetal Brain Male	brain
2	chr4:122657600-122663200	Enhancers	Fetal Lung	lung
3	chr4:122658000-122662800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:122660600-122662600	Weak transcription	Fetal Brain Female	brain
5	chr4:122661200-122662400	Weak transcription	Right Atrium	heart
6	chr4:122661400-122663200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:122661400-122664400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:122661400-122665400	Enhancers	Fetal Heart	heart
9	chr4:122661600-122662800	Weak transcription	HSMM	muscle
10	chr4:122661600-122662800	Weak transcription	HSMMtube	muscle
11	chr4:122661800-122663000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr4:122662000-122662200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:122662000-122662600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:122662000-122663200	Enhancers	Placenta	Placenta
15	chr4:122662000-122664400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:122662000-122664400	Enhancers	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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