Variant report

Variant	rs948570
Chromosome Location	chr18:44292598-44292599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44290160..44292978-chr18:44295020..44296704,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11082551	0.83[CHD][hapmap];0.92[JPT][hapmap]
rs11082553	0.88[ASN][1000 genomes]
rs11872518	0.91[CHD][hapmap];0.87[GIH][hapmap];0.83[JPT][hapmap];0.86[YRI][hapmap]
rs11872859	0.83[JPT][hapmap]
rs12605659	0.84[CHD][hapmap];0.92[JPT][hapmap]
rs16939989	0.84[TSI][hapmap]
rs2155987	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4402660	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4890686	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4890687	0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs71364560	0.87[ASN][1000 genomes]
rs71364561	0.85[ASN][1000 genomes]
rs71364562	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71364563	0.83[ASN][1000 genomes]
rs7229344	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7232509	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8089484	0.92[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs8097565	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs948569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs948570	ST8SIA5	cis	multi-tissue	Pritchard

Chromatin state (count:41 , 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	chr18:44290000-44293600	Enhancers	Psoas Muscle	Psoas
4	chr18:44290000-44295400	Enhancers	Fetal Muscle Leg	muscle
5	chr18:44290600-44293200	Enhancers	Right Atrium	heart
6	chr18:44290600-44293600	Enhancers	Fetal Muscle Trunk	muscle
7	chr18:44290600-44293600	Enhancers	Left Ventricle	heart
8	chr18:44290600-44294600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr18:44290800-44292600	Enhancers	K562	blood
10	chr18:44290800-44292800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:44290800-44293800	Enhancers	HSMMtube	muscle
12	chr18:44291000-44293000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr18:44291000-44293400	Enhancers	NHDF-Ad	bronchial
14	chr18:44291000-44293600	Enhancers	Brain Angular Gyrus	brain
15	chr18:44291200-44292600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:44291200-44293000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr18:44291200-44293000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr18:44291200-44293400	Enhancers	HSMM	muscle
19	chr18:44291400-44292600	Enhancers	Fetal Brain Male	brain
20	chr18:44291400-44292800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr18:44291400-44293000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:44291400-44293000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr18:44291400-44293200	Enhancers	Brain Cingulate Gyrus	brain
24	chr18:44291600-44293000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:44291600-44293000	Enhancers	Brain Hippocampus Middle	brain
26	chr18:44291600-44293000	Enhancers	Ovary	ovary
27	chr18:44291600-44293200	Enhancers	Brain Substantia Nigra	brain
28	chr18:44291600-44293400	Enhancers	NH-A	brain
29	chr18:44291600-44293600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr18:44291800-44293000	Enhancers	Right Ventricle	heart
31	chr18:44291800-44293200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:44291800-44293200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:44291800-44293200	Enhancers	NHLF	lung
34	chr18:44291800-44293200	Enhancers	Osteobl	bone
35	chr18:44291800-44295200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr18:44292000-44292800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:44292000-44293800	Enhancers	Fetal Heart	heart
38	chr18:44292000-44294400	Enhancers	Brain Germinal Matrix	brain
39	chr18:44292000-44295000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr18:44292200-44294400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr18:44292400-44293000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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