Variant report

Variant	rs1019583
Chromosome Location	chr7:137370569-137370570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137369548..137371096-chr7:137379761..137381577,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12056089	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs1834143	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1991084	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs2113428	0.80[CHB][hapmap];0.91[JPT][hapmap]
rs270891	0.87[MEX][hapmap]
rs270893	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs270894	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs270895	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs270896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs270897	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs270898	0.91[CEU][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs270899	0.87[CEU][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs270900	0.87[CEU][hapmap];0.87[MEX][hapmap];0.81[EUR][1000 genomes]
rs270901	0.87[CEU][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs270902	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs270904	0.87[CEU][hapmap];0.87[MEX][hapmap];0.81[EUR][1000 genomes]
rs3778797	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3778798	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800624	0.91[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3800626	0.91[CEU][hapmap];0.85[CHB][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3800637	0.81[CHB][hapmap]
rs4728420	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6948537	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6971978	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs6976725	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7457119	0.91[CEU][hapmap];0.85[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7806658	0.80[CHB][hapmap];0.91[JPT][hapmap]
rs9784934	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv464731	chr7:137356651-137404781	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv608466	chr7:137356651-137404781	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1019583	ADCK2	cis	cerebellum	SCAN
rs1019583	KIAA1549	cis	cerebellum	SCAN
rs1019583	SLC13A4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137355800-137370600	Weak transcription	Aorta	Aorta
2	chr7:137366800-137371800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:137368000-137372400	Weak transcription	HMEC	breast
4	chr7:137368400-137370800	Weak transcription	NH-A	brain
5	chr7:137369200-137370800	Enhancers	Fetal Brain Male	brain
6	chr7:137369600-137371800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:137369600-137372400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:137369600-137372800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:137369800-137370600	Enhancers	Brain Anterior Caudate	brain
10	chr7:137369800-137370800	Enhancers	NHDF-Ad	bronchial
11	chr7:137369800-137371200	Genic enhancers	HSMM	muscle
12	chr7:137369800-137371800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:137369800-137372000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:137369800-137372000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:137369800-137374800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:137370000-137370800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr7:137370000-137370800	Enhancers	Fetal Brain Female	brain
18	chr7:137370000-137371000	Enhancers	Brain Hippocampus Middle	brain
19	chr7:137370000-137371600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:137370000-137374000	Enhancers	Osteobl	bone
21	chr7:137370200-137370800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:137370200-137370800	Enhancers	Brain Germinal Matrix	brain
23	chr7:137370200-137373600	Enhancers	HSMMtube	muscle
24	chr7:137370400-137370800	Enhancers	Right Atrium	heart
25	chr7:137370400-137371000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:137370400-137371000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:137370400-137380600	Weak transcription	Brain Angular Gyrus	brain

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