Variant report

Variant	rs62113910
Chromosome Location	chr19:36973087-36973088
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36966894..36968985-chr19:36971010..36973941,3	MCF-7	breast:
2	chr19:36972928..36975852-chr19:36978689..36981265,4	K562	blood:

Variant related genes	Relation type
ENSG00000186017	Chromatin interaction
ENSG00000267309	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11665865	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11670917	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11672024	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11673325	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12971760	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12985198	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17206393	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2385797	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2912415	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2912423	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2912435	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2912439	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2912441	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2945953	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2945976	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967443	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967444	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2967445	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2967446	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967528	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2967530	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2967531	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2967534	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2967535	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2967537	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967539	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967540	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3107235	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3107236	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3111553	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34550124	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34664029	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34830781	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35408779	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62113945	0.84[AMR][1000 genomes]
rs67276862	0.92[AFR][1000 genomes]
rs8104181	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv1067364	chr19:36921204-36985874	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62113910	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36936400-36978400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:36941000-36979000	Weak transcription	Hela-S3	cervix
3	chr19:36945800-36979000	Weak transcription	Fetal Heart	heart
4	chr19:36947600-36977400	ZNF genes & repeats	Liver	Liver
5	chr19:36957200-36979600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:36957400-36979400	Weak transcription	NH-A	brain
7	chr19:36960400-36979600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:36963400-36979200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr19:36964000-36975000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:36964000-36979800	Weak transcription	Esophagus	oesophagus
11	chr19:36964200-36978200	Weak transcription	Brain Angular Gyrus	brain
12	chr19:36964200-36979000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:36964200-36979000	Weak transcription	Osteobl	bone
14	chr19:36964200-36979200	Weak transcription	Stomach Mucosa	stomach
15	chr19:36964200-36979400	Weak transcription	Brain Anterior Caudate	brain
16	chr19:36964200-36979600	Weak transcription	Placenta	Placenta
17	chr19:36964200-36979600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:36964400-36973400	Weak transcription	HepG2	liver
19	chr19:36964400-36974000	Weak transcription	Brain Substantia Nigra	brain
20	chr19:36964400-36978800	Weak transcription	K562	blood
21	chr19:36964400-36979000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:36964600-36973400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:36964600-36979200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:36964600-36979400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr19:36964800-36974400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:36964800-36979600	Weak transcription	Fetal Kidney	kidney
27	chr19:36965200-36973200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:36965400-36974000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:36965400-36979200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:36965800-36978000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr19:36966000-36973200	Weak transcription	Fetal Muscle Leg	muscle
32	chr19:36966400-36978400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:36966400-36979000	Weak transcription	Colon Smooth Muscle	Colon
34	chr19:36966400-36979200	Weak transcription	Adipose Nuclei	Adipose
35	chr19:36966400-36979600	Weak transcription	HSMMtube	muscle
36	chr19:36966600-36973800	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:36966600-36977000	Weak transcription	Dnd41	blood
38	chr19:36966600-36978200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:36966600-36979000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:36966600-36979000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:36966600-36979000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:36966600-36979400	Weak transcription	Right Ventricle	heart
43	chr19:36966800-36974600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr19:36967800-36979000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:36967800-36979600	Weak transcription	Left Ventricle	heart
46	chr19:36968600-36977200	ZNF genes & repeats	Fetal Brain Female	brain
47	chr19:36968800-36975400	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr19:36969200-36974000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
49	chr19:36969600-36974000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr19:36970000-36973600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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