Variant report

Variant	rs571241
Chromosome Location	chr8:103950997-103950998
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	chr8:103875533..103877919-chr8:103950749..103952905,2	K562	blood:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11990382	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2436856	0.81[MEX][hapmap]
rs2679745	0.87[MEX][hapmap]
rs529802	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs565720	0.87[MEX][hapmap]
rs581610	0.87[MEX][hapmap]
rs601088	0.87[MEX][hapmap]
rs622072	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs650884	0.82[CHB][hapmap];0.88[LWK][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs677406	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs682651	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs685459	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs571241	DCAF13	cis	parietal	SCAN
rs571241	AZIN1	cis	parietal	SCAN
rs571241	AZIN1	Cis_1M	lymphoblastoid	RTeQTL
rs571241	FZD6	cis	cerebellum	SCAN

Chromatin state (count:24 , 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	chr8:103943000-103951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:103943600-103952000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:103943800-103973600	Weak transcription	Fetal Kidney	kidney
7	chr8:103944200-103952000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:103945000-103953200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:103945400-103956800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:103946800-103974000	Weak transcription	Brain Germinal Matrix	brain
11	chr8:103947600-103963400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:103948400-103952000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:103948600-103952200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:103948600-103957200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:103948800-103956800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:103949200-103953200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:103950400-103951600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:103950400-103951800	Weak transcription	HMEC	breast
19	chr8:103950400-103952200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:103950400-103952600	Weak transcription	Placenta	Placenta
21	chr8:103950400-103961000	Weak transcription	Pancreas	Pancrea
22	chr8:103950600-103952200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:103950800-103951000	Flanking Active TSS	GM12878-XiMat	blood
24	chr8:103950800-103951800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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