Variant report

Variant	rs2008936
Chromosome Location	chr8:68292644-68292645
allele	C/T
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	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10504401	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11779992	0.85[ASN][1000 genomes]
rs11780094	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13253205	0.84[ASN][1000 genomes]
rs13275593	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs13277736	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1864610	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2116130	0.83[ASN][1000 genomes]
rs2358131	0.83[ASN][1000 genomes]
rs6992604	0.85[ASN][1000 genomes]
rs718348	0.82[CEU][hapmap];0.83[ASN][1000 genomes]
rs7820370	0.83[ASN][1000 genomes]
rs7841756	0.81[CEU][hapmap]
rs7844861	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs891589	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes];0.92[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68282000-68293000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:68283400-68314000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:68285200-68292800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:68287200-68292800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:68289200-68292800	Weak transcription	Gastric	stomach
6	chr8:68291600-68294600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr8:68292000-68292800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:68292400-68293600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:68292400-68294200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:68292400-68294600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:68292400-68294600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:68292600-68293000	Weak transcription	Primary B cells from cord blood	blood
13	chr8:68292600-68293800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:68292600-68293800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:68292600-68293800	Enhancers	Fetal Kidney	kidney
16	chr8:68292600-68294400	Enhancers	NHEK	skin
17	chr8:68292600-68296000	Weak transcription	Monocytes-CD14+_RO01746	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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