Variant report

Variant	rs2112922
Chromosome Location	chr19:37947831-37947832
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	chr19:37945213..37949636-chr19:37955245..37960324,5	K562	blood:

Variant related genes	Relation type
ENSG00000171827	Chromatin interaction
ENSG00000196437	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1015848	0.92[EUR][1000 genomes]
rs1015849	0.92[EUR][1000 genomes]
rs1035479	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10403582	0.96[EUR][1000 genomes]
rs10404920	0.81[EUR][1000 genomes]
rs10404945	0.82[EUR][1000 genomes]
rs10405064	0.81[EUR][1000 genomes]
rs10405325	0.83[EUR][1000 genomes]
rs10405407	0.81[EUR][1000 genomes]
rs10406177	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10407084	0.88[EUR][1000 genomes]
rs10409204	0.90[EUR][1000 genomes]
rs10411574	0.86[EUR][1000 genomes]
rs10413602	0.85[EUR][1000 genomes]
rs10414904	0.81[EUR][1000 genomes]
rs10415937	0.81[EUR][1000 genomes]
rs10417844	0.81[EUR][1000 genomes]
rs10420430	0.85[EUR][1000 genomes]
rs10420722	0.89[EUR][1000 genomes]
rs10420754	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10422074	0.85[EUR][1000 genomes]
rs10422667	0.92[EUR][1000 genomes]
rs10426618	0.92[EUR][1000 genomes]
rs11083426	0.81[EUR][1000 genomes]
rs11671972	0.81[ASN][1000 genomes]
rs12709813	0.81[EUR][1000 genomes]
rs12972252	0.92[EUR][1000 genomes]
rs12979470	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12981532	0.85[EUR][1000 genomes]
rs13343471	0.90[EUR][1000 genomes]
rs13343485	0.80[EUR][1000 genomes]
rs13343502	0.92[EUR][1000 genomes]
rs13345116	0.81[EUR][1000 genomes]
rs1373991	0.81[EUR][1000 genomes]
rs1382357	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1559229	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2045908	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2081096	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2112920	0.81[EUR][1000 genomes]
rs2112923	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2126977	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2279148	0.81[EUR][1000 genomes]
rs2279149	0.81[EUR][1000 genomes]
rs2291004	0.85[EUR][1000 genomes]
rs2303131	0.90[EUR][1000 genomes]
rs28373708	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28538699	0.92[EUR][1000 genomes]
rs28605784	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28623164	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2891699	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35540940	0.85[EUR][1000 genomes]
rs35777021	0.90[EUR][1000 genomes]
rs3745765	0.83[EUR][1000 genomes]
rs3760825	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3803895	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4452075	0.82[EUR][1000 genomes]
rs4801759	0.92[EUR][1000 genomes]
rs4801803	0.92[EUR][1000 genomes]
rs4802766	0.90[EUR][1000 genomes]
rs4802889	0.87[EUR][1000 genomes]
rs4803229	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4803347	0.81[EUR][1000 genomes]
rs4803460	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803539	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59224125	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62110394	0.83[AMR][1000 genomes]
rs6508711	0.81[EUR][1000 genomes]
rs6508719	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6508732	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6508733	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs713256	0.83[EUR][1000 genomes]
rs7246993	0.85[EUR][1000 genomes]
rs7247259	0.81[EUR][1000 genomes]
rs7248733	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7252099	0.90[EUR][1000 genomes]
rs7252325	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7252346	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7253091	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7253114	0.88[EUR][1000 genomes]
rs7255407	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7255785	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7255952	0.88[EUR][1000 genomes]
rs7255972	0.90[EUR][1000 genomes]
rs7255996	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7256130	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7259968	0.81[EUR][1000 genomes]
rs73631095	0.88[EUR][1000 genomes]
rs8106839	0.95[EUR][1000 genomes]
rs8109038	0.82[EUR][1000 genomes]
rs8109632	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8111782	0.81[EUR][1000 genomes]
rs8112610	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9676739	0.88[EUR][1000 genomes]
rs9676967	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9917081	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription 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	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37898000-37956400	ZNF genes & repeats	Liver	Liver
2	chr19:37910800-37956000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37911200-37954600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:37938000-37956000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:37938200-37956200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:37938600-37951800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr19:37940800-37954200	ZNF genes & repeats	Brain Hippocampus Middle	brain
8	chr19:37940800-37956800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:37941000-37950200	ZNF genes & repeats	Colon Smooth Muscle	Colon
10	chr19:37941000-37952200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr19:37942200-37949200	ZNF genes & repeats	Brain Germinal Matrix	brain
12	chr19:37942400-37954400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
13	chr19:37942400-37954600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr19:37942400-37956000	ZNF genes & repeats	Fetal Lung	lung
15	chr19:37942400-37956200	ZNF genes & repeats	Fetal Brain Female	brain
16	chr19:37942400-37957200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:37942600-37953800	ZNF genes & repeats	Brain Substantia Nigra	brain
18	chr19:37942600-37956000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:37942600-37956600	ZNF genes & repeats	Dnd41	blood
20	chr19:37943400-37950600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr19:37943600-37948400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
22	chr19:37943600-37948400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:37943600-37953200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr19:37943600-37954000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:37943600-37956800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:37943800-37948400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
27	chr19:37943800-37951600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:37944200-37957000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:37944600-37954000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
30	chr19:37944600-37954400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
31	chr19:37944600-37954800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr19:37944600-37956200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr19:37944600-37956400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:37944600-37957000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr19:37944800-37954000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr19:37944800-37954600	ZNF genes & repeats	Primary T cells from cord blood	blood
37	chr19:37944800-37956200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:37944800-37956200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr19:37944800-37957000	ZNF genes & repeats	A549	lung
40	chr19:37945000-37948000	ZNF genes & repeats	Ovary	ovary
41	chr19:37945000-37950000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
42	chr19:37945200-37949600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:37945400-37949800	Weak transcription	Osteobl	bone
44	chr19:37945600-37948800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:37945800-37949200	Weak transcription	Fetal Thymus	thymus
46	chr19:37946200-37948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:37946200-37957400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr19:37946800-37948200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:37946800-37948200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr19:37946800-37948800	Weak transcription	Rectal Smooth Muscle	rectum

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