Variant report

Variant	rs1860858
Chromosome Location	chr7:122335944-122335945
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	chr7:122333145..122337582-chr7:122337646..122340528,4	K562	blood:

Variant related genes	Relation type
ENSG00000188050	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1120019	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs1860860	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2058444	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2192019	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs2215666	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2215667	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2430026	1.00[ASW][hapmap]
rs2471177	1.00[AMR][1000 genomes]
rs2471179	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2471201	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs3993668	1.00[AMR][1000 genomes]
rs6466835	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6466837	1.00[YRI][hapmap]
rs6944692	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6972849	1.00[YRI][hapmap]
rs6978244	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs763877	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7788040	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7792080	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv817238	chr7:122325864-122371594	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1860858	APOBEC3B	trans	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122324000-122336000	Weak transcription	Right Atrium	heart
2	chr7:122324200-122336000	Weak transcription	Fetal Lung	lung
3	chr7:122327600-122336000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:122329600-122343400	Weak transcription	Ovary	ovary
5	chr7:122330000-122343000	Weak transcription	Spleen	Spleen
6	chr7:122330000-122347000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:122330200-122336000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:122332800-122342200	Weak transcription	Left Ventricle	heart
9	chr7:122333000-122336000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:122333000-122350400	Weak transcription	Gastric	stomach
11	chr7:122333400-122336000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:122333800-122336000	Weak transcription	Pancreas	Pancrea
13	chr7:122335000-122336600	Enhancers	HepG2	liver
14	chr7:122335000-122336800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:122335600-122336600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:122335600-122336800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:122335800-122336200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:122335800-122336200	Enhancers	Fetal Heart	heart
19	chr7:122335800-122336400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:122335800-122336600	Enhancers	HUES48 Cell Line	embryonic stem cell

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