Variant report

Variant	rs12522861
Chromosome Location	chr5:52893874-52893875
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	chr5:52893268..52895958-chr5:52895998..52899477,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10940327	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11749138	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11949787	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11956779	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12514303	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12517465	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12518490	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2087618	0.96[ASN][1000 genomes]
rs2124948	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2168662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290697	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs269414	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28507151	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35119962	0.83[ASN][1000 genomes]
rs35879821	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4147736	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4362905	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4640749	0.86[AFR][1000 genomes]
rs55689727	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55791118	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56185221	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56402244	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs567	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60308929	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6450151	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6860913	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6897299	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72750137	0.83[ASN][1000 genomes]
rs72751836	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72753643	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7712013	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7737530	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][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	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv880868	chr5:52799618-53002783	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv880689	chr5:52847995-53002783	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS 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
5	nsv881348	chr5:52885100-52942083	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv881237	chr5:52885100-52944428	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv880426	chr5:52885100-52953048	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv881604	chr5:52885100-53035301	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52857800-52898800	Weak transcription	HSMM	muscle
2	chr5:52858000-52899800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:52858000-52900400	Weak transcription	Fetal Kidney	kidney
4	chr5:52858200-52897200	Weak transcription	NHEK	skin
5	chr5:52858400-52895000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:52858400-52899800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:52860000-52909000	Weak transcription	Small Intestine	intestine
8	chr5:52861600-52894600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:52865000-52900400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:52865600-52898400	Weak transcription	Fetal Lung	lung
11	chr5:52865600-52899800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:52869600-52896000	Weak transcription	Fetal Stomach	stomach
13	chr5:52873000-52900400	Weak transcription	Gastric	stomach
14	chr5:52873200-52899000	Weak transcription	Right Atrium	heart
15	chr5:52875000-52900000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:52875400-52899200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:52876800-52907400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:52877400-52900400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:52877600-52898800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:52878400-52899000	Weak transcription	Ovary	ovary
21	chr5:52878400-52901200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:52879600-52895200	Weak transcription	Fetal Intestine Large	intestine
23	chr5:52883000-52900200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr5:52884200-52900400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:52884400-52897200	Weak transcription	HMEC	breast
26	chr5:52885400-52900400	Weak transcription	Primary T cells from cord blood	blood
27	chr5:52885600-52897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:52885600-52898800	Weak transcription	Pancreas	Pancrea
29	chr5:52885600-52899000	Weak transcription	Aorta	Aorta
30	chr5:52885600-52902600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:52885800-52894800	Weak transcription	Left Ventricle	heart
32	chr5:52885800-52899600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:52885800-52906000	Weak transcription	Psoas Muscle	Psoas
34	chr5:52887000-52900000	Weak transcription	Brain Anterior Caudate	brain
35	chr5:52888000-52905000	Weak transcription	Right Ventricle	heart
36	chr5:52888200-52899000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:52888800-52898600	Weak transcription	Liver	Liver
38	chr5:52888800-52900000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:52888800-52900200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:52888800-52908200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr5:52889000-52899800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr5:52889000-52900200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:52889000-52904200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:52889200-52900000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr5:52889200-52900600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr5:52889400-52902000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:52889600-52899600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:52889800-52894800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:52889800-52897000	Weak transcription	A549	lung
50	chr5:52889800-52900200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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