Variant report

Variant	rs1630494
Chromosome Location	chr6:88063047-88063048
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1145713	0.88[ASN][1000 genomes]
rs1145714	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1145715	0.88[ASN][1000 genomes]
rs1145716	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11759727	0.86[ASN][1000 genomes]
rs1188806	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1188816	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1188817	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1188818	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1188819	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203162	0.88[ASN][1000 genomes]
rs1203163	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1203164	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12194354	0.84[ASN][1000 genomes]
rs12211627	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1739886	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1746444	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1753152	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1753159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181491	0.89[ASN][1000 genomes]
rs2236048	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2257153	0.86[ASN][1000 genomes]
rs242264	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242265	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242266	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242268	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242269	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242274	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242275	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242276	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242277	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242282	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2983136	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs368267	0.88[ASN][1000 genomes]
rs374792	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs377288	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs379455	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs381741	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381798	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382956	0.88[ASN][1000 genomes]
rs383692	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs384318	0.88[ASN][1000 genomes]
rs385210	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs392807	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397516	0.92[ASN][1000 genomes]
rs398140	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs406981	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs411606	0.88[ASN][1000 genomes]
rs413687	0.88[ASN][1000 genomes]
rs414453	0.88[ASN][1000 genomes]
rs452315	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs490447	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540975	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541170	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921673	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6926686	0.86[ASN][1000 genomes]
rs6938885	0.86[ASN][1000 genomes]
rs6939075	0.86[ASN][1000 genomes]
rs827433	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs910564	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9294376	0.86[ASN][1000 genomes]
rs9444490	0.82[ASN][1000 genomes]
rs9444491	0.86[ASN][1000 genomes]
rs9450646	0.82[ASN][1000 genomes]
rs9450651	0.86[ASN][1000 genomes]
rs9450653	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018155	chr6:88049729-88272862	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv830722	chr6:88054186-88223625	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1630494	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL
rs1630494	C6orf162	cis	multi-tissue	Pritchard
rs1630494	C6orf164	cis	Nerve Tibial	GTEx
rs1630494	C6orf163	Cis_1M	lymphoblastoid	RTeQTL
rs1630494	C6orf164	cis	Artery Tibial	GTEx
rs1630494	C6orf164	cis	Skin Sun Exposed Lower leg	GTEx
rs1630494	C6orf162	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88039000-88068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:88039000-88078400	Weak transcription	Fetal Stomach	stomach
3	chr6:88040200-88075800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:88040600-88116800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:88043800-88068400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:88044000-88071400	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:88044400-88076000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:88044800-88072600	Weak transcription	Adipose Nuclei	Adipose
9	chr6:88044800-88075600	Weak transcription	Fetal Lung	lung
10	chr6:88049200-88066800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:88051200-88071200	Weak transcription	Ovary	ovary
12	chr6:88051600-88070000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:88054600-88067400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:88054600-88068400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:88054800-88075600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:88054800-88110200	Weak transcription	Primary T cells from cord blood	blood
17	chr6:88055000-88063600	Weak transcription	HSMM	muscle
18	chr6:88055000-88075800	Weak transcription	Primary B cells from cord blood	blood
19	chr6:88055200-88072800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:88057400-88073800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:88057600-88077200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:88061400-88070400	Weak transcription	Right Ventricle	heart
23	chr6:88061600-88094600	Weak transcription	Left Ventricle	heart
24	chr6:88062800-88070800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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