Variant report

Variant	rs11780094
Chromosome Location	chr8:68285247-68285248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10113752	0.88[ASN][1000 genomes]
rs10504401	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11779992	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11995348	0.84[ASN][1000 genomes]
rs12678865	0.84[ASN][1000 genomes]
rs12681292	0.86[ASN][1000 genomes]
rs13275593	0.87[ASN][1000 genomes]
rs13277736	0.85[ASN][1000 genomes]
rs1864610	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2008936	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2358131	0.86[ASN][1000 genomes]
rs6992604	0.80[ASN][1000 genomes]
rs7822637	0.85[ASN][1000 genomes]
rs7841756	0.86[ASN][1000 genomes]
rs7844861	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs891589	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr8:68278000-68286000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:68280400-68285800	Weak transcription	K562	blood
3	chr8:68282000-68293000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:68282600-68289600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:68283000-68292400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:68283200-68292400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:68283400-68314000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:68283800-68285800	Weak transcription	Fetal Intestine Small	intestine
9	chr8:68283800-68286200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:68283800-68286600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:68284600-68286400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:68284800-68285800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr8:68285000-68288000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:68285200-68292800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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