Variant report

Variant	rs17819022
Chromosome Location	chr2:46850571-46850572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46849308..46851947-chr2:46857219..46859280,2	K562	blood:
2	chr2:46844525..46846523-chr2:46850500..46852298,2	MCF-7	breast:
3	chr2:46843066..46846542-chr2:46848509..46851651,4	K562	blood:

Variant related genes	Relation type
ENSG00000119878	Chromatin interaction
ENSG00000151665	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12105006	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13013245	1.00[JPT][hapmap]
rs13024534	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13032670	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13033177	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1378764	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767994	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17768018	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17768132	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17768138	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17768226	0.82[ASN][1000 genomes]
rs17818315	0.82[CEU][hapmap]
rs1824050	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122715	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34449783	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34544165	0.83[AMR][1000 genomes]
rs34748737	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34752561	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34996358	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35350086	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35449212	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35682608	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35837037	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35909669	0.90[EUR][1000 genomes]
rs35949012	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4952836	0.82[AMR][1000 genomes]
rs4952837	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55742873	0.82[ASN][1000 genomes]
rs62136873	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62136894	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6746598	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7565274	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs896212	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
9	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17819022	ATP6V1E2	cis	Muscle Skeletal	GTEx
rs17819022	CRIPT	cis	Frontal Cortex	GTEx
rs17819022	CRIPT	Cis_1M	lymphoblastoid	RTeQTL
rs17819022	CRIPT	cis	multi-tissue	Pritchard
rs17819022	ATP6V1E2	cis	Heart Left Ventricle	GTEx
rs17819022	CRIPT	cis	Temporal Cortex	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46844800-46865600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:46844800-46868400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:46844800-46868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:46844800-46868800	Weak transcription	Esophagus	oesophagus
5	chr2:46844800-46872200	Weak transcription	Pancreas	Pancrea
6	chr2:46845200-46854000	Weak transcription	Colonic Mucosa	Colon
7	chr2:46845400-46854000	Weak transcription	Small Intestine	intestine
8	chr2:46845400-46858400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:46845400-46864800	Weak transcription	Psoas Muscle	Psoas
10	chr2:46845400-46867000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:46845400-46871000	Weak transcription	Stomach Mucosa	stomach
12	chr2:46845400-46873000	Weak transcription	Right Ventricle	heart
13	chr2:46845600-46854800	Weak transcription	NHEK	skin
14	chr2:46845600-46868200	Weak transcription	Aorta	Aorta
15	chr2:46845600-46868800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:46846000-46854400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:46846000-46868600	Weak transcription	Fetal Intestine Small	intestine
18	chr2:46846200-46853400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:46846200-46855200	Strong transcription	Liver	Liver
20	chr2:46846200-46857400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:46846400-46853400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr2:46846400-46853600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:46846400-46853800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:46846400-46853800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:46846400-46853800	Strong transcription	Placenta	Placenta
26	chr2:46846400-46856000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:46846400-46857800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:46846800-46850800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:46846800-46850800	Strong transcription	Fetal Brain Female	brain
30	chr2:46846800-46851800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:46846800-46853400	Strong transcription	Brain Anterior Caudate	brain
32	chr2:46846800-46853400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:46846800-46853600	Strong transcription	NH-A	brain
34	chr2:46846800-46853800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr2:46846800-46853800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:46846800-46853800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:46846800-46854600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr2:46846800-46854800	Strong transcription	Fetal Thymus	thymus
39	chr2:46846800-46857200	Strong transcription	Adipose Nuclei	Adipose
40	chr2:46846800-46857800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:46846800-46858200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:46846800-46858200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:46846800-46858400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:46846800-46858400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:46846800-46858600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:46846800-46859400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:46847000-46853600	Strong transcription	HepG2	liver
48	chr2:46847000-46854800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr2:46847000-46855200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:46847800-46854800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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