Variant report

Variant	rs422799
Chromosome Location	chr8:68560667-68560668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10087399	0.92[ASN][1000 genomes]
rs10957394	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28508555	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28844685	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs379085	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs450738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57577405	1.00[ASN][1000 genomes]
rs582424	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472324	0.92[ASN][1000 genomes]
rs6472325	0.80[CEU][hapmap];0.98[ASN][1000 genomes]
rs6472326	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6986533	0.96[CEU][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6998443	1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7823371	0.83[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7841258	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs900896	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	nsv1032986	chr8:68468044-68789883	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv530518	chr8:68521420-68973114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv2761195	chr8:68544033-68568185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1034081	chr8:68547447-68561738	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1023152	chr8:68548120-68561738	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68559200-68561000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr8:68559200-68561400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:68559200-68562200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:68559600-68560800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:68559600-68560800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr8:68559600-68561000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr8:68559600-68562000	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:68559800-68560800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:68559800-68563000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:68560000-68561400	Enhancers	Brain Anterior Caudate	brain
11	chr8:68560000-68561600	Enhancers	Brain Hippocampus Middle	brain
12	chr8:68560000-68561800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:68560000-68561800	Enhancers	Fetal Brain Male	brain
14	chr8:68560000-68562800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:68560200-68560800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:68560200-68561000	Enhancers	Fetal Stomach	stomach
17	chr8:68560200-68561400	Enhancers	Brain Cingulate Gyrus	brain
18	chr8:68560200-68561600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:68560200-68562800	Enhancers	Adipose Nuclei	Adipose
20	chr8:68560200-68563000	Enhancers	Colon Smooth Muscle	Colon
21	chr8:68560400-68561400	Enhancers	Brain Angular Gyrus	brain
22	chr8:68560600-68560800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:68560600-68560800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:68560600-68560800	Enhancers	Fetal Muscle Leg	muscle
25	chr8:68560600-68561000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:68560600-68561400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:68560600-68561400	Enhancers	Brain Substantia Nigra	brain

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