Variant report

Variant	rs951826
Chromosome Location	chr8:104353333-104353334
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104350988..104353935-chr8:104356214..104358122,2	K562	blood:
2	chr8:104352324..104354992-chr8:104357088..104360934,4	MCF-7	breast:
3	chr8:104309234..104313826-chr8:104349570..104353634,5	MCF-7	breast:
4	chr8:104352561..104355650-chr8:104357205..104359647,3	K562	blood:

Variant related genes	Relation type
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10089343	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10090069	0.83[ASN][1000 genomes]
rs10094939	1.00[CHB][hapmap]
rs10096207	0.83[ASN][1000 genomes]
rs10097121	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10101517	0.83[ASN][1000 genomes]
rs10102413	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10103739	0.83[ASN][1000 genomes]
rs10105195	0.83[ASN][1000 genomes]
rs10105450	0.83[ASN][1000 genomes]
rs10106795	1.00[ASN][1000 genomes]
rs10109642	0.83[ASN][1000 genomes]
rs10112450	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10112941	0.83[ASN][1000 genomes]
rs10112952	0.83[ASN][1000 genomes]
rs10113160	0.83[ASN][1000 genomes]
rs10113367	0.83[ASN][1000 genomes]
rs1032471	1.00[CHB][hapmap]
rs1061196	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11779349	1.00[ASN][1000 genomes]
rs11781628	1.00[CHB][hapmap]
rs11785583	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11985002	0.83[ASN][1000 genomes]
rs12707777	1.00[ASN][1000 genomes]
rs13255562	0.83[ASN][1000 genomes]
rs13257958	0.83[ASN][1000 genomes]
rs13258345	1.00[ASN][1000 genomes]
rs13263611	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13266347	0.83[ASN][1000 genomes]
rs13266642	0.83[ASN][1000 genomes]
rs13273192	1.00[ASN][1000 genomes]
rs13278335	0.83[ASN][1000 genomes]
rs13282967	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1370007	1.00[CHB][hapmap]
rs17205821	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17228538	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17802416	1.00[CHB][hapmap]
rs17802518	0.83[ASN][1000 genomes]
rs17804088	1.00[CHB][hapmap]
rs17804149	1.00[CHB][hapmap]
rs28437723	0.83[ASN][1000 genomes]
rs28811720	0.83[ASN][1000 genomes]
rs28862349	0.83[ASN][1000 genomes]
rs2948449	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3104026	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34208282	1.00[ASN][1000 genomes]
rs35225263	0.83[ASN][1000 genomes]
rs35392014	0.83[ASN][1000 genomes]
rs57237927	0.83[ASN][1000 genomes]
rs6468866	1.00[ASN][1000 genomes]
rs6985718	0.83[ASN][1000 genomes]
rs6989714	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6990501	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs71520811	0.83[ASN][1000 genomes]
rs71520812	0.83[ASN][1000 genomes]
rs72675443	0.83[ASN][1000 genomes]
rs72675444	0.83[ASN][1000 genomes]
rs72675445	0.83[ASN][1000 genomes]
rs7464317	1.00[ASN][1000 genomes]
rs7820626	0.83[ASN][1000 genomes]
rs7839421	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7845210	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs827528	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs827537	1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs827538	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs827546	1.00[CHB][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs827577	0.82[YRI][hapmap]
rs973242	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs981816	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs951826	FZD6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104317400-104354000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:104321400-104358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:104328200-104355800	Weak transcription	Gastric	stomach
4	chr8:104328200-104361200	Weak transcription	Pancreas	Pancrea
5	chr8:104342400-104357600	Weak transcription	Placenta	Placenta
6	chr8:104342400-104360000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:104343200-104355800	Weak transcription	HUVEC	blood vessel
8	chr8:104343800-104357600	Weak transcription	Adipose Nuclei	Adipose
9	chr8:104343800-104357600	Weak transcription	Ovary	ovary
10	chr8:104349200-104353800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:104349200-104355600	Weak transcription	NH-A	brain
12	chr8:104350400-104353800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:104350400-104355400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:104350400-104355400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:104350400-104355600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:104350400-104355600	Weak transcription	Left Ventricle	heart
17	chr8:104350400-104355600	Weak transcription	NHDF-Ad	bronchial
18	chr8:104350400-104357400	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:104350800-104353400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:104351800-104356200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:104351800-104360200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:104352200-104353400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:104352400-104354800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:104352400-104357200	Weak transcription	Aorta	Aorta
25	chr8:104352600-104353800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:104352600-104355600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr8:104352600-104355600	Weak transcription	HSMM	muscle
28	chr8:104352600-104355600	Weak transcription	Osteobl	bone
29	chr8:104352600-104356000	Weak transcription	HSMMtube	muscle
30	chr8:104352600-104356600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:104352600-104357000	Weak transcription	HMEC	breast
32	chr8:104352600-104357000	Weak transcription	NHEK	skin
33	chr8:104352800-104355000	Weak transcription	NHLF	lung
34	chr8:104352800-104355200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:104352800-104356600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:104352800-104357000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:104353000-104353400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:104353200-104353600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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