Variant report

Variant	rs2753267
Chromosome Location	chr1:160092121-160092122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160085794..160087533-chr1:160090949..160092603,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1046995	0.90[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs10494336	0.90[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs1063125	0.85[ASN][1000 genomes]
rs12136519	0.93[ASN][1000 genomes]
rs16831388	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs16831438	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs16831441	0.90[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs17846707	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2070702	0.85[ASN][1000 genomes]
rs2070703	0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs2070704	0.90[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs3747625	0.85[ASN][1000 genomes]
rs56199408	0.84[ASN][1000 genomes]
rs58313172	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9660305	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9661252	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3327316	chr1:159985477-160151281	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv520189	chr1:160011512-160095625	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1806746	chr1:160029416-160105927	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1824420	chr1:160029416-160105927	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv1843994	chr1:160029416-160105927	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv534066	chr1:160029416-160105986	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
7	esv1794281	chr1:160029416-160111565	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv1820784	chr1:160029416-160159395	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv534165	chr1:160029416-160187302	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv872490	chr1:160083012-160121488	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2753267	NDUFS2	cis	parietal	SCAN
rs2753267	FCGR3A	cis	parietal	SCAN
rs2753267	ATP1A4	cis	Artery Tibial	GTEx
rs2753267	ATP1A4	cis	Heart Left Ventricle	GTEx
rs2753267	ATF6	cis	cerebellum	SCAN
rs2753267	ATP1A4	cis	Muscle Skeletal	GTEx
rs2753267	GON4L	cis	cerebellum	SCAN
rs2753267	ATP1A4	cis	Adipose Subcutaneous	GTEx
rs2753267	OR6K2	cis	parietal	SCAN
rs2753267	CASQ1	cis	lymphoblastoid	seeQTL
rs2753267	EFNA4	cis	parietal	SCAN
rs2753267	DEDD	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160084000-160094000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:160087600-160093000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:160087600-160093000	Weak transcription	Esophagus	oesophagus
4	chr1:160087600-160094000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:160088000-160097200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:160088000-160146200	Weak transcription	Spleen	Spleen
7	chr1:160088200-160092800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:160088200-160092800	Weak transcription	HMEC	breast
9	chr1:160088200-160094000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:160088400-160092800	Weak transcription	Right Atrium	heart
11	chr1:160088400-160093000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:160088400-160093000	Weak transcription	Placenta	Placenta
13	chr1:160088400-160093400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:160088400-160094000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:160088600-160093400	Weak transcription	A549	lung
16	chr1:160088800-160094200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:160088800-160107400	Weak transcription	Fetal Brain Female	brain
18	chr1:160089000-160097400	Weak transcription	Ovary	ovary
19	chr1:160089400-160093800	Weak transcription	Adipose Nuclei	Adipose
20	chr1:160089400-160093800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:160090200-160092200	Enhancers	Brain Hippocampus Middle	brain
22	chr1:160090200-160104600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:160090400-160094200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:160090600-160093000	Strong transcription	Fetal Muscle Leg	muscle
25	chr1:160090600-160093600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:160090600-160094000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr1:160090600-160112600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:160090800-160093800	Strong transcription	Aorta	Aorta
29	chr1:160090800-160094200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:160090800-160094200	Weak transcription	Lung	lung
31	chr1:160090800-160094400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr1:160090800-160094400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:160091000-160092200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:160091000-160093000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:160091200-160092400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:160091200-160093000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:160091200-160094400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:160091200-160095600	Weak transcription	Brain Anterior Caudate	brain
39	chr1:160091400-160092200	Strong transcription	Left Ventricle	heart
40	chr1:160091400-160092400	Weak transcription	Brain Substantia Nigra	brain
41	chr1:160091400-160092400	Weak transcription	Psoas Muscle	Psoas
42	chr1:160091400-160092800	Weak transcription	Fetal Stomach	stomach
43	chr1:160091400-160092800	Weak transcription	Right Ventricle	heart
44	chr1:160091400-160093000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:160091400-160093000	Weak transcription	Brain Angular Gyrus	brain
46	chr1:160091400-160093200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:160091400-160093600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:160091400-160094000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:160091400-160094000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:160091400-160094200	Weak transcription	H9 Cell Line	embryonic stem cell

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