Variant report

Variant	rs10112317
Chromosome Location	chr8:104445715-104445716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:104425937..104427490-chr8:104445696..104447560,2	MCF-7	breast:
2	chr8:104445021..104448087-chr8:104451150..104453607,3	K562	blood:
3	chr8:104424142..104430925-chr8:104440435..104446900,8	K562	blood:
4	chr8:104445161..104447747-chr8:104451502..104455112,3	MCF-7	breast:
5	chr8:104438776..104442844-chr8:104444444..104446629,3	MCF-7	breast:
6	chr8:104433388..104438523-chr8:104444336..104447964,5	MCF-7	breast:
7	chr8:104426997..104428750-chr8:104445549..104448139,2	MCF-7	breast:
8	chr8:104443134..104444705-chr8:104444795..104447313,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164933	Chromatin interaction
ENSG00000164934	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10090069	0.83[EUR][1000 genomes]
rs10093237	1.00[ASN][1000 genomes]
rs10094939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096207	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10097121	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10101517	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10105195	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10105450	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10108112	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109642	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10112450	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10112941	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10112952	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10113160	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10113367	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10216774	0.85[AFR][1000 genomes]
rs1061196	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11985002	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13255562	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13257958	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13266347	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13266642	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13278335	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1370007	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17228538	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17802416	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17802518	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17804088	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17804149	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28437723	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28630640	1.00[ASN][1000 genomes]
rs28862349	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35225263	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35392014	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6985718	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6989714	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71520811	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72675443	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72675444	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72675445	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7820626	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7839421	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7845210	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs973242	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs981816	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription 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	39 gene(s)	inside rSNPs	diseases
9	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv611832	chr8:104400808-104481735	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10112317	FZD6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104428200-104462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:104428200-104464800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:104428800-104457400	Weak transcription	Stomach Mucosa	stomach
4	chr8:104428800-104460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:104429000-104447800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:104429000-104450800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:104429000-104453200	Weak transcription	Colonic Mucosa	Colon
8	chr8:104429000-104453400	Weak transcription	Right Ventricle	heart
9	chr8:104429000-104456600	Weak transcription	Thymus	Thymus
10	chr8:104429000-104457800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:104429000-104458600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:104429000-104459000	Weak transcription	Brain Angular Gyrus	brain
13	chr8:104429000-104459000	Weak transcription	Gastric	stomach
14	chr8:104429000-104461400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:104429200-104456000	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:104429200-104458600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:104429400-104446600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:104429400-104453200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:104429400-104455000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:104429400-104456800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:104429400-104457000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:104429400-104458600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:104430400-104457600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:104430600-104457000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:104430600-104461200	Weak transcription	Pancreas	Pancrea
26	chr8:104430800-104448000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:104432000-104447800	Weak transcription	Fetal Heart	heart
28	chr8:104432000-104457600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr8:104432000-104460600	Weak transcription	Small Intestine	intestine
30	chr8:104432200-104455600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr8:104432400-104446200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr8:104432400-104449800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:104432400-104449800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:104432400-104457400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:104432600-104452800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:104432600-104457200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:104432800-104449200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr8:104433000-104451200	Strong transcription	Primary B cells from cord blood	blood
39	chr8:104433000-104457000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:104433000-104458000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:104433200-104450000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:104433200-104457200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr8:104433400-104456400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr8:104433600-104446200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:104434400-104466600	Weak transcription	Psoas Muscle	Psoas
46	chr8:104434600-104448000	Weak transcription	NHLF	lung
47	chr8:104434600-104459400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:104434800-104449200	Weak transcription	Fetal Brain Male	brain
49	chr8:104434800-104462000	Weak transcription	Spleen	Spleen
50	chr8:104435400-104449200	Weak transcription	Ovary	ovary

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