Variant report

Variant	rs270703
Chromosome Location	chr1:45060687-45060688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:44841610..44844360-chr1:45060508..45062052,2	K562	blood:
2	chr1:44843013..44844547-chr1:45060251..45061407,11	K562	blood:
3	chr1:44843752..44844536-chr1:45060558..45061260,3	MCF-7	breast:
4	chr1:45060517..45061058-chr1:45118359..45119159,2	K562	blood:
5	chr1:45040199..45041181-chr1:45060510..45061040,2	K562	blood:
6	chr1:44843530..44844629-chr1:45060020..45061733,6	MCF-7	breast:
7	chr1:44682688..44683324-chr1:45060511..45061029,2	MCF-7	breast:
8	chr1:45037445..45038410-chr1:45060557..45061427,3	K562	blood:
9	chr1:45037501..45038399-chr1:45060218..45061438,4	MCF-7	breast:

No data

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs156651	0.86[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs156652	0.87[ASN][1000 genomes]
rs270707	0.86[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs270708	0.86[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs270709	0.86[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs270710	0.87[ASN][1000 genomes]
rs270711	0.87[ASN][1000 genomes]
rs270712	0.86[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs270713	0.87[ASN][1000 genomes]
rs270714	0.87[ASN][1000 genomes]
rs270716	0.82[CHB][hapmap];0.90[CHD][hapmap];0.82[ASN][1000 genomes]
rs270719	0.91[ASN][1000 genomes]
rs272529	0.84[AMR][1000 genomes]
rs275079	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6429543	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs270703	ADAM23	trans	lymphoblastoid	seeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
2	chr1:45049000-45062800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr1:45053200-45063600	Enhancers	Brain Hippocampus Middle	brain
4	chr1:45055400-45061600	Enhancers	Brain Cingulate Gyrus	brain
5	chr1:45057600-45068800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:45058200-45063200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:45058200-45063800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:45059000-45062400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:45059600-45061000	Enhancers	Brain Angular Gyrus	brain
10	chr1:45059600-45061200	Enhancers	Brain Anterior Caudate	brain
11	chr1:45060000-45060800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:45060000-45060800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:45060000-45060800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:45060000-45060800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:45060000-45061000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr1:45060000-45061000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr1:45060000-45061200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:45060000-45061200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:45060000-45061200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:45060000-45061200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:45060000-45061200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:45060000-45061200	Enhancers	Fetal Intestine Small	intestine
23	chr1:45060000-45061400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:45060000-45061400	Enhancers	Brain Substantia Nigra	brain
25	chr1:45060200-45061000	Enhancers	Fetal Intestine Large	intestine
26	chr1:45060200-45061200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr1:45060400-45061000	Enhancers	Duodenum Mucosa	Duodenum
28	chr1:45060400-45061200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:45060600-45060800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:45060600-45061000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:45060600-45061000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:45060600-45061000	Enhancers	Adipose Nuclei	Adipose
33	chr1:45060600-45061000	Bivalent Enhancer	Stomach Mucosa	stomach

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