Variant report

Variant	rs10107771
Chromosome Location	chr8:108309388-108309389
allele	C/G
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	POLR2A	chr8:108306497-108309657	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:108305514..108307158-chr8:108308709..108310471,2	K562	blood:

Variant related genes	Relation type
ANGPT1	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10095838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10096130	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10107444	1.00[CEU][hapmap];0.95[AFR][1000 genomes]
rs10107638	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10110459	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10505103	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10505104	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10505106	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16875877	0.84[EUR][1000 genomes]
rs16875879	0.84[EUR][1000 genomes]
rs16875986	1.00[MEX][hapmap]
rs17297247	1.00[EUR][1000 genomes]
rs17360907	1.00[EUR][1000 genomes]
rs17369077	1.00[EUR][1000 genomes]
rs17369459	1.00[EUR][1000 genomes]
rs41322349	1.00[MEX][hapmap]
rs56969075	1.00[EUR][1000 genomes]
rs57117178	1.00[EUR][1000 genomes]
rs58034973	1.00[EUR][1000 genomes]
rs60516302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60582786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73701026	1.00[EUR][1000 genomes]
rs73701029	1.00[EUR][1000 genomes]
rs73701071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73701072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73701077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73701096	1.00[EUR][1000 genomes]
rs73701100	1.00[EUR][1000 genomes]
rs7459942	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029202	chr8:107796289-108384241	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539712	chr8:107796289-108384241	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1034210	chr8:107796489-108384102	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539713	chr8:107796489-108384102	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv529383	chr8:107796490-108368465	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv915821	chr8:107796490-108393008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv916496	chr8:107813722-108338822	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1028726	chr8:107816841-108392547	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv497805	chr8:107852509-108368371	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10107771	DDX43	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108276600-108327600	Weak transcription	Aorta	Aorta
2	chr8:108278400-108310400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:108282800-108321000	Weak transcription	Psoas Muscle	Psoas
4	chr8:108294200-108315800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:108296600-108323200	Weak transcription	Fetal Kidney	kidney
6	chr8:108299800-108310200	Weak transcription	NHLF	lung
7	chr8:108302800-108311400	Strong transcription	K562	blood
8	chr8:108304600-108326400	Weak transcription	Ovary	ovary
9	chr8:108306000-108313800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:108306200-108310200	Weak transcription	Fetal Lung	lung
11	chr8:108306200-108321000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:108307400-108310000	Weak transcription	Osteobl	bone
13	chr8:108307400-108313200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:108307400-108313200	Weak transcription	Dnd41	blood
15	chr8:108307600-108316000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:108307600-108325000	Weak transcription	Adipose Nuclei	Adipose
17	chr8:108308800-108309400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr8:108309000-108309400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:108309000-108309400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:108309200-108309600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:108309200-108310400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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