Variant report

Variant	rs62014670
Chromosome Location	chr1:227776885-227776886
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227767723..227770508-chr1:227774778..227776968,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11072868	0.82[AMR][1000 genomes]
rs11634610	1.00[ASN][1000 genomes]
rs11634771	1.00[ASN][1000 genomes]
rs11635479	0.85[AMR][1000 genomes]
rs11638109	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12898898	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12903907	0.81[EUR][1000 genomes]
rs12913747	0.82[AMR][1000 genomes]
rs12917116	0.91[EUR][1000 genomes]
rs17817764	1.00[ASN][1000 genomes]
rs2339352	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2684940	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34448088	1.00[ASN][1000 genomes]
rs34474029	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34773983	0.82[AMR][1000 genomes]
rs35531038	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35804445	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4477671	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4779652	0.82[AMR][1000 genomes]
rs4779656	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4779657	1.00[ASN][1000 genomes]
rs4780203	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs541098	0.93[EUR][1000 genomes]
rs62014671	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62014673	0.91[EUR][1000 genomes]
rs62014674	1.00[ASN][1000 genomes]
rs6495442	0.85[AMR][1000 genomes]
rs6495443	0.85[AMR][1000 genomes]
rs66530874	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67739072	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71462883	0.82[AMR][1000 genomes]
rs71464844	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162140	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7168640	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169003	0.83[AMR][1000 genomes]
rs7173183	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7175823	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7178075	0.82[AMR][1000 genomes]
rs7178446	0.83[AMR][1000 genomes]
rs72718678	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72718682	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8030094	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8033781	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8039219	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3338615	chr1:227738421-227798486	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62014670	AVEN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227752400-227780600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:227754400-227783600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:227760200-227783800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:227760200-227784600	Weak transcription	Fetal Kidney	kidney
5	chr1:227764400-227778400	Weak transcription	HSMMtube	muscle
6	chr1:227767200-227779000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:227767600-227780600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:227767600-227783400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:227768000-227783600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:227769800-227780800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:227770600-227781200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:227770600-227784400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:227771400-227778800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:227771400-227778800	ZNF genes & repeats	Dnd41	blood
16	chr1:227771800-227790600	Weak transcription	Left Ventricle	heart
17	chr1:227772600-227778000	Weak transcription	Primary T cells from cord blood	blood
18	chr1:227773200-227779600	Weak transcription	Esophagus	oesophagus
19	chr1:227773200-227783600	Weak transcription	Psoas Muscle	Psoas
20	chr1:227774400-227778000	ZNF genes & repeats	Fetal Brain Female	brain
21	chr1:227774600-227783600	Weak transcription	Thymus	Thymus
22	chr1:227774800-227778200	Weak transcription	Right Ventricle	heart
23	chr1:227774800-227778400	Weak transcription	Fetal Brain Male	brain
24	chr1:227774800-227782600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:227774800-227790600	Weak transcription	Gastric	stomach
26	chr1:227774800-227799200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:227774800-227805000	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:227775200-227780400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:227775400-227777000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr1:227775600-227777600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:227775600-227777600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr1:227775800-227778800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
33	chr1:227776200-227777000	Weak transcription	Primary B cells from cord blood	blood
34	chr1:227776400-227777200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:227776400-227777600	ZNF genes & repeats	Fetal Stomach	stomach
36	chr1:227776800-227779000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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