Variant report

Variant	rs10106648
Chromosome Location	chr8:124451605-124451606
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	chr8:124446421..124448843-chr8:124450506..124453127,3	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10091979	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10106777	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10110934	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1045270	0.81[ASN][1000 genomes]
rs1045284	0.81[ASN][1000 genomes]
rs1045291	0.81[ASN][1000 genomes]
rs10505437	0.80[ASN][1000 genomes]
rs11780128	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11988802	0.81[ASN][1000 genomes]
rs11989576	0.81[ASN][1000 genomes]
rs11991520	0.81[ASN][1000 genomes]
rs12235062	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12541494	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12545841	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12547262	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12675771	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12679801	0.81[ASN][1000 genomes]
rs13265068	0.81[ASN][1000 genomes]
rs13265652	0.81[ASN][1000 genomes]
rs13269287	0.81[ASN][1000 genomes]
rs1967032	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28485832	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28570131	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28633322	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34092108	0.81[ASN][1000 genomes]
rs34618897	0.81[ASN][1000 genomes]
rs3765211	0.81[ASN][1000 genomes]
rs3765212	0.81[ASN][1000 genomes]
rs3779984	0.81[ASN][1000 genomes]
rs3779986	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3817716	0.81[ASN][1000 genomes]
rs3824250	0.81[ASN][1000 genomes]
rs3824252	0.86[ASN][1000 genomes]
rs3824254	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3905739	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3955451	0.81[ASN][1000 genomes]
rs3955452	0.80[ASN][1000 genomes]
rs4006559	0.81[ASN][1000 genomes]
rs4416808	0.81[ASN][1000 genomes]
rs4870853	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871363	0.85[EUR][1000 genomes]
rs4871378	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871380	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55766597	0.85[EUR][1000 genomes]
rs57128794	0.83[EUR][1000 genomes]
rs57156063	0.81[ASN][1000 genomes]
rs62519236	0.81[ASN][1000 genomes]
rs6415480	0.81[ASN][1000 genomes]
rs6470147	0.81[ASN][1000 genomes]
rs6470153	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6993896	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994481	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7001767	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7012822	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7014678	0.81[ASN][1000 genomes]
rs7341643	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7827492	0.87[ASN][1000 genomes]
rs7836832	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10106648	WDYHV1	cis	Muscle Skeletal	GTEx
rs10106648	WDYHV1	cis	lung	GTEx
rs10106648	C8orf32	Cis_1M	lymphoblastoid	RTeQTL
rs10106648	WDYHV1	cis	Skin Sun Exposed Lower leg	GTEx
rs10106648	WDYHV1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124430200-124455400	Weak transcription	Fetal Kidney	kidney
2	chr8:124430200-124456000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:124430200-124472800	Weak transcription	Colonic Mucosa	Colon
4	chr8:124430200-124484600	Weak transcription	Psoas Muscle	Psoas
5	chr8:124430400-124453000	Weak transcription	Fetal Lung	lung
6	chr8:124430600-124461800	Weak transcription	Fetal Brain Male	brain
7	chr8:124431200-124460200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:124431200-124462200	Weak transcription	Fetal Heart	heart
9	chr8:124436600-124464400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:124437600-124462400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:124439400-124453600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:124440000-124453600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:124440200-124454200	Strong transcription	Dnd41	blood
14	chr8:124440400-124453200	Strong transcription	Fetal Intestine Small	intestine
15	chr8:124440600-124454200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:124440600-124454400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:124440600-124456200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:124441000-124454400	Strong transcription	HepG2	liver
19	chr8:124441400-124460200	Weak transcription	Stomach Mucosa	stomach
20	chr8:124441600-124461600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:124441600-124462600	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:124442200-124454200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr8:124442600-124458600	Weak transcription	Hela-S3	cervix
24	chr8:124443600-124454600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:124443800-124454600	Strong transcription	Primary T cells from cord blood	blood
26	chr8:124444000-124453800	Weak transcription	Placenta	Placenta
27	chr8:124444200-124453000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:124445400-124454200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr8:124445600-124453200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:124445600-124465400	Weak transcription	Pancreas	Pancrea
31	chr8:124445800-124453000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:124446400-124452200	Strong transcription	Fetal Thymus	thymus
33	chr8:124447000-124452400	Strong transcription	GM12878-XiMat	blood
34	chr8:124447000-124456600	Strong transcription	Liver	Liver
35	chr8:124447600-124454800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:124447600-124467800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:124448400-124454400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:124448600-124454400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:124448600-124454400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:124448600-124454400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:124448600-124454600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr8:124448600-124454600	Strong transcription	Adipose Nuclei	Adipose
43	chr8:124448600-124454600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr8:124448800-124453400	Weak transcription	Brain Angular Gyrus	brain
45	chr8:124448800-124454200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:124448800-124454600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:124448800-124454600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:124448800-124454600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:124448800-124454600	Strong transcription	Fetal Intestine Large	intestine
50	chr8:124449000-124455000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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