Variant report

Variant	rs12511564
Chromosome Location	chr4:110530914-110530915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10004265	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10017233	0.86[EUR][1000 genomes]
rs10027051	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12500353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs149801	0.95[ASN][1000 genomes]
rs183192	0.81[ASN][1000 genomes]
rs197205	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs197208	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs197210	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs197211	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs197212	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs197214	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs197215	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs197217	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs197227	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs197232	0.81[ASN][1000 genomes]
rs197234	0.81[ASN][1000 genomes]
rs6533437	0.83[EUR][1000 genomes]
rs6533439	0.83[EUR][1000 genomes]
rs6533440	0.83[EUR][1000 genomes]
rs6810719	0.80[EUR][1000 genomes]
rs6810809	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6811858	0.80[EUR][1000 genomes]
rs6818852	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6832174	0.86[EUR][1000 genomes]
rs6841003	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6841563	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9993676	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv3419480	chr4:110521397-110549622	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110522600-110531000	Weak transcription	Ovary	ovary
2	chr4:110524600-110531200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:110524800-110531000	Weak transcription	Dnd41	blood
4	chr4:110525200-110531000	Weak transcription	Thymus	Thymus
5	chr4:110529000-110533200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:110529200-110531000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr4:110529400-110531000	Strong transcription	Primary T cells from cord blood	blood
8	chr4:110529400-110531000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:110529600-110531000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:110529800-110531600	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr4:110530000-110531000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr4:110530000-110531000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:110530000-110531400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:110530000-110531600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:110530000-110531600	Enhancers	Placenta	Placenta
16	chr4:110530000-110532000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr4:110530000-110532600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr4:110530200-110531000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:110530200-110531000	Enhancers	Lung	lung
20	chr4:110530200-110531000	Enhancers	Stomach Mucosa	stomach
21	chr4:110530200-110531200	Enhancers	NHEK	skin
22	chr4:110530600-110531000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:110530600-110531000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:110530600-110531600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr4:110530600-110533400	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr4:110530800-110531000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:110530800-110531000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr4:110530800-110531000	Enhancers	Esophagus	oesophagus
29	chr4:110530800-110531400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:110530800-110531400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:110530800-110531400	Enhancers	Right Atrium	heart
32	chr4:110530800-110531400	Genic enhancers	Spleen	Spleen
33	chr4:110530800-110531600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
34	chr4:110530800-110531600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:110530800-110532800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:110530800-110535600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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