Variant report

Variant	rs8089484
Chromosome Location	chr18:44297870-44297871
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44295920..44298422-chr18:44298971..44300843,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11082551	0.83[CHD][hapmap]
rs11082553	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11872518	0.91[CHD][hapmap]
rs12605659	0.84[CHD][hapmap]
rs2155987	0.93[ASN][1000 genomes]
rs4402660	0.82[ASN][1000 genomes]
rs4890686	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs4890687	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71364560	0.88[ASN][1000 genomes]
rs71364561	0.86[ASN][1000 genomes]
rs71364562	0.81[ASN][1000 genomes]
rs71364563	0.84[ASN][1000 genomes]
rs7229344	0.86[ASN][1000 genomes]
rs7232509	0.83[ASN][1000 genomes]
rs948569	0.92[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs948570	0.92[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv909589	chr18:44279892-44330604	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv909590	chr18:44279892-44332911	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv909591	chr18:44279892-44370518	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv909592	chr18:44279892-44385150	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909593	chr18:44279892-44396246	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv909594	chr18:44279892-44400621	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv909596	chr18:44291419-44330604	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv909597	chr18:44291419-44385150	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv909598	chr18:44291419-44422661	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv909599	chr18:44294722-44385150	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv909600	chr18:44294722-44396246	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv909601	chr18:44294722-44400621	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv909602	chr18:44294722-44422661	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8089484	ST8SIA5	cis	lymphoblastoid	seeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44286800-44298800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:44287800-44298800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:44293000-44298400	Weak transcription	Ovary	ovary
4	chr18:44293000-44298800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:44293200-44298400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr18:44293200-44298400	Weak transcription	Osteobl	bone
7	chr18:44293200-44298800	Weak transcription	NHLF	lung
8	chr18:44293400-44298400	Weak transcription	HSMM	muscle
9	chr18:44293400-44298600	Weak transcription	NHDF-Ad	bronchial
10	chr18:44293600-44298600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr18:44293600-44298800	Weak transcription	Left Ventricle	heart
12	chr18:44293600-44298800	Weak transcription	Psoas Muscle	Psoas
13	chr18:44293800-44298400	Weak transcription	Fetal Heart	heart
14	chr18:44294400-44298400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr18:44294400-44298800	Weak transcription	Brain Germinal Matrix	brain
16	chr18:44294600-44299000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr18:44295200-44299000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr18:44295400-44298400	Weak transcription	Right Ventricle	heart
19	chr18:44295400-44298800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr18:44296400-44298800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:44296800-44298400	Weak transcription	Right Atrium	heart
22	chr18:44296800-44298800	Weak transcription	Spleen	Spleen
23	chr18:44297000-44298800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr18:44297000-44301000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:44297200-44298400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr18:44297200-44298400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr18:44297200-44298800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:44297200-44298800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:44297200-44298800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr18:44297200-44298800	Weak transcription	Brain Hippocampus Middle	brain
31	chr18:44297200-44298800	Weak transcription	Fetal Muscle Leg	muscle
32	chr18:44297200-44298800	Weak transcription	Gastric	stomach
33	chr18:44297200-44298800	Weak transcription	Lung	lung
34	chr18:44297200-44299600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr18:44297400-44298400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:44297400-44298800	Weak transcription	Brain Substantia Nigra	brain
37	chr18:44297800-44298200	Weak transcription	Brain Angular Gyrus	brain
38	chr18:44297800-44298400	Enhancers	HUVEC	blood vessel
39	chr18:44297800-44298600	Enhancers	NH-A	brain
40	chr18:44297800-44298800	Weak transcription	HSMMtube	muscle

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