Variant report

Variant	rs12474830
Chromosome Location	chr2:210169239-210169240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10174811	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11883740	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11898191	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12620142	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12694176	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13006249	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13400204	0.92[EUR][1000 genomes]
rs1446595	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1473332	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2084209	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2365312	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34664825	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4327184	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4672553	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4673469	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4673470	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4673472	0.85[AMR][1000 genomes]
rs6710965	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6717872	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6733990	0.84[EUR][1000 genomes]
rs7561085	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7566113	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7604561	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs930613	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs935404	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs935405	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs979619	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs982271	0.85[AMR][1000 genomes];0.86[EUR][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	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv460059	chr2:210058383-210215272	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv584308	chr2:210058383-210215272	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006506	chr2:210063871-210212039	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv536134	chr2:210063871-210212039	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210164000-210172200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:210167800-210169600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:210167800-210169600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr2:210167800-210169800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:210167800-210169800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr2:210168200-210169800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:210168200-210170400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:210168200-210170400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:210168400-210169600	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:210168400-210172200	Weak transcription	Right Atrium	heart
11	chr2:210169000-210169400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:210169000-210169400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:210169000-210169800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr2:210169200-210169600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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