Variant report

Variant	rs4006575
Chromosome Location	chr8:124421623-124421624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124416051..124418848-chr8:124419770..124421913,2	MCF-7	breast:
2	chr8:124419214..124422869-chr8:124424403..124427101,4	K562	blood:
3	chr8:124420257..124422233-chr8:124425540..124427078,2	MCF-7	breast:
4	chr8:124412329..124414016-chr8:124419223..124421843,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254294	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10447969	0.82[AFR][1000 genomes]
rs1045270	0.82[AFR][1000 genomes]
rs1045284	0.82[AFR][1000 genomes]
rs1045291	0.82[AFR][1000 genomes]
rs10505436	0.82[AFR][1000 genomes]
rs10505437	0.82[AFR][1000 genomes]
rs10956128	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11777567	0.82[AFR][1000 genomes]
rs11777628	0.80[AFR][1000 genomes]
rs11777701	0.82[AFR][1000 genomes]
rs11781261	0.82[AFR][1000 genomes]
rs11784379	0.82[AFR][1000 genomes]
rs11784408	0.82[AFR][1000 genomes]
rs11786724	0.82[AFR][1000 genomes]
rs11987269	0.80[AFR][1000 genomes]
rs11987798	0.82[AFR][1000 genomes]
rs11988802	0.82[AFR][1000 genomes]
rs11989576	0.80[AFR][1000 genomes]
rs11991120	0.81[EUR][1000 genomes]
rs11991520	0.82[AFR][1000 genomes]
rs11992509	0.82[AFR][1000 genomes]
rs11994251	0.80[AFR][1000 genomes]
rs11994834	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11994856	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11994885	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12674995	0.82[AFR][1000 genomes]
rs12675059	0.81[AFR][1000 genomes]
rs12675493	0.80[AFR][1000 genomes]
rs12677203	0.82[AFR][1000 genomes]
rs12677256	0.82[AFR][1000 genomes]
rs12679109	0.81[AFR][1000 genomes]
rs12679801	0.82[AFR][1000 genomes]
rs12681098	0.82[AFR][1000 genomes]
rs12681123	0.81[AFR][1000 genomes]
rs13252103	0.82[AFR][1000 genomes]
rs13252340	0.82[AFR][1000 genomes]
rs13252776	0.81[AFR][1000 genomes]
rs13252934	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13253961	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13254442	0.82[AFR][1000 genomes]
rs13255484	0.82[AFR][1000 genomes]
rs13256668	0.82[AFR][1000 genomes]
rs13258305	0.82[AFR][1000 genomes]
rs13258309	0.82[AFR][1000 genomes]
rs13258475	0.82[AFR][1000 genomes]
rs13258747	0.82[AFR][1000 genomes]
rs13263438	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13264169	0.82[AFR][1000 genomes]
rs13265652	0.82[AFR][1000 genomes]
rs13265801	0.82[AFR][1000 genomes]
rs13266596	0.82[AFR][1000 genomes]
rs13269269	0.82[AFR][1000 genomes]
rs13269287	0.82[AFR][1000 genomes]
rs13271857	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13272492	0.83[AFR][1000 genomes]
rs13273196	0.83[AFR][1000 genomes]
rs13273416	0.83[AFR][1000 genomes]
rs13273673	0.82[AFR][1000 genomes]
rs13277931	0.82[AFR][1000 genomes]
rs13278626	0.82[AFR][1000 genomes]
rs13278992	0.82[AFR][1000 genomes]
rs2125589	0.82[AFR][1000 genomes]
rs34092108	0.82[AFR][1000 genomes]
rs34618897	0.82[AFR][1000 genomes]
rs34669660	0.80[AFR][1000 genomes]
rs3765211	0.82[AFR][1000 genomes]
rs3765212	0.82[AFR][1000 genomes]
rs3779984	0.82[AFR][1000 genomes]
rs3817716	0.82[AFR][1000 genomes]
rs3824250	0.82[AFR][1000 genomes]
rs3824253	0.82[AFR][1000 genomes]
rs3824255	0.81[AFR][1000 genomes]
rs3824256	0.81[AFR][1000 genomes]
rs3886814	0.82[AFR][1000 genomes]
rs3886815	0.82[AFR][1000 genomes]
rs3932063	0.82[AFR][1000 genomes]
rs3932064	0.82[AFR][1000 genomes]
rs3955451	0.82[AFR][1000 genomes]
rs4307325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4416808	0.82[AFR][1000 genomes]
rs4419795	0.80[AFR][1000 genomes]
rs4531035	0.82[AFR][1000 genomes]
rs4541892	0.82[AFR][1000 genomes]
rs4637807	0.82[AFR][1000 genomes]
rs4871363	0.91[ASN][1000 genomes]
rs55766597	0.90[ASN][1000 genomes]
rs56286987	0.80[AFR][1000 genomes]
rs57082257	0.82[AFR][1000 genomes]
rs57156063	0.82[AFR][1000 genomes]
rs62519236	0.82[AFR][1000 genomes]
rs62520970	0.82[AFR][1000 genomes]
rs62520973	0.82[AFR][1000 genomes]
rs62520982	0.80[AFR][1000 genomes]
rs62520983	0.82[AFR][1000 genomes]
rs6415480	0.82[AFR][1000 genomes]
rs6470147	0.82[AFR][1000 genomes]
rs6999234	0.82[AFR][1000 genomes]
rs7000446	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7000637	0.82[AFR][1000 genomes]
rs7014678	0.82[AFR][1000 genomes]
rs7822061	0.82[AFR][1000 genomes]
rs7825820	0.82[AFR][1000 genomes]
rs7826350	0.82[AFR][1000 genomes]
rs7831029	0.82[AFR][1000 genomes]
rs7831088	0.82[AFR][1000 genomes]
rs7836832	0.82[AFR][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	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3415547	chr8:124420820-124444289	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4006575	WDYHV1	cis	Artery Tibial	GTEx
rs4006575	WDYHV1	cis	Nerve Tibial	GTEx
rs4006575	WDYHV1	cis	Adipose Subcutaneous	GTEx
rs4006575	C8orf32	cis	multi-tissue	Pritchard
rs4006575	WDYHV1	cis	Thyroid	GTEx
rs4006575	C8orf32	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124409400-124424800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:124409400-124427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:124409400-124427600	Weak transcription	A549	lung
4	chr8:124409400-124428000	Weak transcription	Brain Anterior Caudate	brain
5	chr8:124409600-124424600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:124409600-124424800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:124409800-124424600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:124409800-124427800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:124414400-124425000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:124416200-124424200	Weak transcription	Ovary	ovary
11	chr8:124416200-124424800	Weak transcription	Fetal Intestine Small	intestine
12	chr8:124416200-124425800	Weak transcription	Left Ventricle	heart
13	chr8:124416200-124427800	Weak transcription	Pancreas	Pancrea
14	chr8:124416800-124424200	Weak transcription	Fetal Heart	heart
15	chr8:124417800-124421800	Enhancers	HepG2	liver
16	chr8:124418400-124428200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:124420200-124424800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:124420400-124425000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:124421200-124424200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:124421400-124428200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:124421600-124421800	Genic enhancers	Right Ventricle	heart

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