Variant report

Variant	rs4922073
Chromosome Location	chr8:19506410-19506411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12543931	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs12676948	0.83[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs17128793	0.87[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.90[ASN][1000 genomes]
rs2975431	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs4279608	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.99[ASN][1000 genomes]
rs4279609	0.98[ASN][1000 genomes]
rs4559253	0.89[ASN][1000 genomes]
rs4574861	0.99[ASN][1000 genomes]
rs4922072	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4922076	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4922077	0.98[ASN][1000 genomes]
rs4922078	1.00[CEU][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs6586854	0.98[ASN][1000 genomes]
rs6586855	0.98[ASN][1000 genomes]
rs6985490	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7006487	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7837353	0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1015448	chr8:19474715-19520367	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv6106	chr8:19499554-19544249	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4922073	ChGn	cis	multi-tissue	Pritchard
rs4922073	PIWIL2	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19482000-19520000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:19495800-19508600	Weak transcription	Primary T cells from cord blood	blood
3	chr8:19498200-19508200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:19499600-19508200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:19500400-19510600	Weak transcription	NHLF	lung
6	chr8:19500400-19519600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:19501000-19510800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:19503000-19508000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:19503000-19513600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:19503200-19507000	Enhancers	A549	lung
11	chr8:19503200-19508200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:19503200-19510800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:19503200-19511000	Weak transcription	Hela-S3	cervix
14	chr8:19503400-19510800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:19503400-19510800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:19503400-19518200	Weak transcription	Primary B cells from cord blood	blood
17	chr8:19503400-19521000	Weak transcription	Pancreas	Pancrea
18	chr8:19504800-19510800	Weak transcription	Right Atrium	heart
19	chr8:19504800-19511000	Weak transcription	Right Ventricle	heart
20	chr8:19505000-19508400	Weak transcription	Left Ventricle	heart
21	chr8:19505600-19508000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:19505600-19508000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:19505600-19511000	Weak transcription	Spleen	Spleen
24	chr8:19505600-19511000	Weak transcription	NHDF-Ad	bronchial
25	chr8:19506000-19511200	Weak transcription	Fetal Lung	lung
26	chr8:19506000-19511400	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:19506200-19510800	Weak transcription	Brain Anterior Caudate	brain
28	chr8:19506400-19507600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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