Variant report

Variant	rs1533182
Chromosome Location	chr8:103953319-103953320
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1019975	1.00[LWK][hapmap]
rs10505040	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12546479	1.00[CHB][hapmap]
rs12546960	1.00[CHB][hapmap]
rs12547652	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs12548316	1.00[YRI][hapmap]
rs12548745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123	1.00[LWK][hapmap]
rs1512351	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs17197736	1.00[CHB][hapmap]
rs17198079	1.00[CHB][hapmap]
rs17199777	1.00[YRI][hapmap]
rs17200931	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs17775390	1.00[CHB][hapmap]
rs2304348	1.00[LWK][hapmap]
rs3808549	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs3808551	1.00[YRI][hapmap]
rs4734066	1.00[CHB][hapmap]
rs4734672	1.00[LWK][hapmap]
rs4734674	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs4734680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526535	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526538	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62526539	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6468846	0.86[AMR][1000 genomes]
rs6998032	1.00[LWK][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1533182	COX6C	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
2	chr8:103937800-103956000	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:103940200-103972600	Weak transcription	Ovary	ovary
4	chr8:103943800-103973600	Weak transcription	Fetal Kidney	kidney
5	chr8:103945400-103956800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:103946800-103974000	Weak transcription	Brain Germinal Matrix	brain
7	chr8:103947600-103963400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:103948600-103957200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:103948800-103956800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:103950400-103961000	Weak transcription	Pancreas	Pancrea
11	chr8:103951000-103953800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:103951400-103953600	Enhancers	GM12878-XiMat	blood
13	chr8:103951800-103953800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:103952000-103953600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:103952000-103953800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:103952000-103953800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:103952400-103957600	Weak transcription	Fetal Intestine Small	intestine
18	chr8:103952600-103954600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:103952600-103973600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:103952800-103953600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:103952800-103958200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:103952800-103971000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:103953000-103953400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:103953000-103967200	Weak transcription	Brain Substantia Nigra	brain
25	chr8:103953000-103968800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:103953200-103953600	Enhancers	Placenta	Placenta
27	chr8:103953200-103972800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:103953200-103974000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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