Variant report

Variant	rs3792129
Chromosome Location	chr2:100214045-100214046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100212449..100215580-chr2:100217291..100220527,3	K562	blood:
2	chr2:100210702..100213204-chr2:100213341..100216130,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10167554	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123790	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11684088	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12620982	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12712049	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12712054	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13029690	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1357719	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1996984	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2030691	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2030692	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2030693	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2049400	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2177541	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2177542	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3792130	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3792131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4850910	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4851213	0.83[AFR][1000 genomes]
rs4851220	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4851221	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6542884	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6738724	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6745568	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7575682	0.82[AFR][1000 genomes]
rs7579222	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9284724	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9308826	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9308827	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9678859	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100162800-100219200	Strong transcription	Primary B cells from peripheral blood	blood
2	chr2:100186800-100214600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:100190400-100218200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:100191400-100215000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:100198400-100214800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:100199400-100217800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:100203000-100216000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:100203200-100215200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:100203200-100221400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:100203400-100221200	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:100203800-100217200	Weak transcription	Liver	Liver
12	chr2:100204000-100217400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:100204000-100218000	Weak transcription	Fetal Lung	lung
14	chr2:100204000-100221800	Weak transcription	Adipose Nuclei	Adipose
15	chr2:100207800-100219800	Strong transcription	Primary B cells from cord blood	blood
16	chr2:100210200-100215000	Weak transcription	Fetal Thymus	thymus
17	chr2:100210400-100218400	Weak transcription	Dnd41	blood
18	chr2:100210400-100219800	Weak transcription	Gastric	stomach
19	chr2:100210600-100215000	Weak transcription	Lung	lung
20	chr2:100210600-100217600	Weak transcription	Spleen	Spleen
21	chr2:100210600-100224200	Weak transcription	Brain Germinal Matrix	brain
22	chr2:100210800-100216800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:100211000-100219000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:100211000-100234200	Weak transcription	Thymus	Thymus
25	chr2:100211000-100249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:100211600-100215000	Weak transcription	Fetal Kidney	kidney
27	chr2:100211600-100219800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:100212400-100215400	Strong transcription	Primary T cells from cord blood	blood
29	chr2:100212800-100221400	Weak transcription	Ovary	ovary
30	chr2:100213000-100218000	Weak transcription	Fetal Brain Female	brain
31	chr2:100213200-100216800	Weak transcription	Fetal Brain Male	brain
32	chr2:100213400-100214200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:100213400-100215000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:100213600-100214800	Enhancers	NH-A	brain
35	chr2:100213600-100214800	Enhancers	Osteobl	bone
36	chr2:100213600-100215000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:100213800-100214800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:100213800-100215200	Enhancers	HSMM	muscle
39	chr2:100214000-100214200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:100214000-100214400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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