Variant report

Variant	rs6468849
Chromosome Location	chr8:103949653-103949654
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr8:103949621-103950149	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:103949638-103950001	HUVEC	blood vessel:	n/a	n/a
3	PBX3	chr8:103949555-103950013	SK-N-SH	brain:	n/a	n/a
4	NFIC	chr8:103949525-103950048	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr8:103949581-103950098	SK-N-SH	brain:	n/a	n/a
6	MYC	chr8:103949619-103950035	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:103949577-103950043	HUVEC	blood vessel:	n/a	n/a
8	REST	chr8:103949601-103950102	PFSK-1	brain:	n/a	n/a
9	TCF12	chr8:103949511-103950124	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr8:103949481-103950065	PFSK-1	brain:	n/a	n/a
11	SIN3AK20	chr8:103949622-103949904	PFSK-1	brain:	n/a	n/a
12	GATA3	chr8:103949518-103950190	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103936331..103939322-chr8:103948640..103950158,2	K562	blood:

Variant related genes	Relation type
ENSG00000253320	TF binding region
ENSG00000244052	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1000156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11988501	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28613197	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35644318	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6468841	0.84[CEU][hapmap];0.87[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs6468847	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988956	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6991188	0.85[TSI][hapmap]
rs7015831	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7833563	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841632	0.88[EUR][1000 genomes]
rs7842414	0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs939061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6468849	AZIN1	cis	multi-tissue	Pritchard

Chromatin state (count:30 , 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	chr8:103946600-103949800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:103946800-103974000	Weak transcription	Brain Germinal Matrix	brain
12	chr8:103947600-103963400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:103948400-103950800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:103948400-103952000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:103948600-103952200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:103948600-103957200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:103948800-103956800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:103949200-103950600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:103949200-103953200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:103949400-103949800	Weak transcription	Pancreas	Pancrea
21	chr8:103949400-103950200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:103949600-103949800	Enhancers	GM12878-XiMat	blood
23	chr8:103949600-103950000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:103949600-103950200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:103949600-103950200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:103949600-103950200	Bivalent Enhancer	Osteobl	bone
27	chr8:103949600-103950400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:103949600-103950400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:103949600-103950400	Enhancers	HMEC	breast
30	chr8:103949600-103950600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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