Variant report

Variant	rs2059943
Chromosome Location	chr8:107071607-107071608
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107045005..107047534-chr8:107070265..107071984,2	K562	blood:
2	chr8:107046034..107047733-chr8:107070265..107072124,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10086055	0.96[ASN][1000 genomes]
rs10092927	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1032545	0.91[ASN][1000 genomes]
rs10505091	0.89[ASN][1000 genomes]
rs10808408	0.91[ASN][1000 genomes]
rs10955407	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955408	0.96[ASN][1000 genomes]
rs10955409	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11781234	0.91[ASN][1000 genomes]
rs11781331	0.83[ASN][1000 genomes]
rs11782609	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11786829	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11997513	0.89[EUR][1000 genomes]
rs12541635	0.87[EUR][1000 genomes]
rs12542361	0.91[ASN][1000 genomes]
rs12542647	0.90[CHB][hapmap]
rs12546875	0.91[ASN][1000 genomes]
rs12674846	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12675478	0.86[ASN][1000 genomes]
rs12676365	0.90[CHB][hapmap]
rs12677927	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12680670	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12681183	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13277300	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13439705	0.88[ASN][1000 genomes]
rs1353449	0.85[CHB][hapmap]
rs1353450	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1366969	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1429676	0.98[EUR][1000 genomes]
rs1429681	0.96[ASN][1000 genomes]
rs1496180	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1496181	0.96[ASN][1000 genomes]
rs1496182	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1496183	0.96[ASN][1000 genomes]
rs1603357	0.89[ASN][1000 genomes]
rs1603363	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16873989	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16873995	1.00[YRI][hapmap]
rs16874116	1.00[YRI][hapmap]
rs1817939	0.96[ASN][1000 genomes]
rs1835267	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1835268	0.93[ASN][1000 genomes]
rs1896918	0.87[EUR][1000 genomes]
rs1896919	0.87[EUR][1000 genomes]
rs2029878	0.96[ASN][1000 genomes]
rs2029879	0.96[ASN][1000 genomes]
rs2029880	0.96[ASN][1000 genomes]
rs2029881	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2029882	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2115703	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2132471	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2163124	0.96[ASN][1000 genomes]
rs2172997	0.91[ASN][1000 genomes]
rs2217391	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2345068	0.91[ASN][1000 genomes]
rs2345070	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2881037	0.88[EUR][1000 genomes]
rs34177605	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34872724	0.96[ASN][1000 genomes]
rs4416800	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734126	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4734128	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4734893	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734894	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734895	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734896	0.90[EUR][1000 genomes]
rs4734897	0.90[EUR][1000 genomes]
rs55639043	0.96[ASN][1000 genomes]
rs55729609	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55762012	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55811614	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56352125	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56402027	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57607757	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57715289	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59123253	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59858392	0.90[ASN][1000 genomes]
rs60482457	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62525696	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62525736	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62527360	0.96[ASN][1000 genomes]
rs62527363	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62527373	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62527374	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62527375	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62527376	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62527400	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62527405	0.96[ASN][1000 genomes]
rs6415444	0.93[ASN][1000 genomes]
rs6469023	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469026	0.91[ASN][1000 genomes]
rs6469027	0.88[ASN][1000 genomes]
rs6469028	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6469030	0.96[ASN][1000 genomes]
rs6469031	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6469032	0.96[ASN][1000 genomes]
rs6469036	1.00[YRI][hapmap]
rs6469038	0.84[CHD][hapmap]
rs6984393	0.92[ASN][1000 genomes]
rs6987512	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6997487	0.88[ASN][1000 genomes]
rs6999580	0.96[ASN][1000 genomes]
rs7003520	0.96[ASN][1000 genomes]
rs7006651	0.82[ASN][1000 genomes]
rs7008840	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012379	0.85[ASN][1000 genomes]
rs7013082	0.85[CHB][hapmap]
rs72676052	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs727419	0.84[CHD][hapmap]
rs7460291	0.96[ASN][1000 genomes]
rs7464413	0.90[EUR][1000 genomes]
rs7812766	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7814776	0.85[CHB][hapmap]
rs7815337	0.96[ASN][1000 genomes]
rs7819043	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7819501	0.91[ASN][1000 genomes]
rs7829054	0.97[ASN][1000 genomes]
rs7830426	0.96[ASN][1000 genomes]
rs7836196	0.90[ASN][1000 genomes]
rs7839195	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7839239	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7841482	0.92[YRI][hapmap]
rs7843166	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7846149	0.96[ASN][1000 genomes]
rs7846262	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs993176	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021369	chr8:106493317-107243322	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv611840	chr8:106913294-107265915	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv611841	chr8:107048059-107090500	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2059943	FZD6	cis	parietal	SCAN
rs2059943	FZD7	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107059200-107072000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:107067800-107071800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:107068000-107073600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:107068200-107072000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:107070800-107071800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:107070800-107073000	Active TSS	Fetal Kidney	kidney
7	chr8:107070800-107073200	Flanking Active TSS	NH-A	brain
8	chr8:107071000-107071800	Enhancers	NHDF-Ad	bronchial
9	chr8:107071000-107072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:107071000-107072800	Active TSS	K562	blood
11	chr8:107071200-107071800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:107071200-107072200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:107071400-107072600	Flanking Active TSS	NHLF	lung
14	chr8:107071400-107072800	Active TSS	A549	lung
15	chr8:107071400-107072800	Active TSS	Hela-S3	cervix
16	chr8:107071400-107073000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:107071600-107071800	Active TSS	Osteobl	bone
18	chr8:107071600-107072600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:107071600-107072600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:107071600-107072600	Flanking Active TSS	HUVEC	blood vessel
21	chr8:107071600-107072800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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