Variant report

Variant	rs2424633
Chromosome Location	chr20:24716699-24716700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2179799	0.80[AMR][1000 genomes]
rs2245957	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424627	0.85[AMR][1000 genomes]
rs2424629	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424630	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424631	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424632	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424635	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2424637	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34709197	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36062686	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239747	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239748	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239749	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815302	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60577833	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910237	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910238	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910239	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910240	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1061412	chr20:24629468-24887869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv544216	chr20:24629468-24887869	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1061281	chr20:24711635-24815107	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv544217	chr20:24711635-24815107	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv912825	chr20:24715544-24813345	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24710000-24718000	Weak transcription	Spleen	Spleen
2	chr20:24712400-24716800	Weak transcription	Fetal Thymus	thymus
3	chr20:24714000-24718400	Weak transcription	Thymus	Thymus
4	chr20:24715000-24717400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:24715000-24718400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr20:24715200-24719000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:24715400-24717000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr20:24715400-24718000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr20:24715600-24716800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr20:24715800-24716800	Enhancers	Fetal Brain Male	brain
11	chr20:24715800-24717000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr20:24716200-24717600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr20:24716200-24717600	Enhancers	Fetal Stomach	stomach
14	chr20:24716200-24717800	Weak transcription	Placenta	Placenta
15	chr20:24716200-24723800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr20:24716400-24717000	Enhancers	Colon Smooth Muscle	Colon
17	chr20:24716400-24717000	Enhancers	Rectal Smooth Muscle	rectum
18	chr20:24716400-24717600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr20:24716400-24717600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr20:24716400-24717600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr20:24716600-24716800	Bivalent Enhancer	Fetal Lung	lung
22	chr20:24716600-24717000	Enhancers	Stomach Smooth Muscle	stomach
23	chr20:24716600-24717800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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