Variant report

Variant	rs72994422
Chromosome Location	chr3:142844665-142844666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142841180..142845810-chr3:142884202..142887242,4	K562	blood:
2	chr22:21977706..21979861-chr3:142843771..142846008,2	K562	blood:
3	chr3:142794271..142797141-chr3:142844007..142845720,2	K562	blood:

Variant related genes	Relation type
ENSG00000211483	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2122359	1.00[EUR][1000 genomes]
rs59428453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992561	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv508250	chr3:142842454-142943722	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr3:142839200-142845800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr3:142839200-142847200	Transcr. at gene 5' and 3'	Fetal Lung	lung
3	chr3:142840600-142845200	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr3:142840600-142854600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:142841000-142848600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:142841200-142852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:142841200-142853200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:142841200-142858000	Weak transcription	Spleen	Spleen
9	chr3:142842800-142844800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr3:142842800-142844800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:142843000-142845400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:142843800-142844800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:142844000-142845000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr3:142844000-142845000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:142844000-142845400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:142844000-142848600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:142844000-142853200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:142844200-142844800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr3:142844200-142845200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:142844200-142845200	Enhancers	Thymus	Thymus
21	chr3:142844200-142845400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr3:142844200-142846200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr3:142844200-142853400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:142844400-142845200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:142844400-142845200	Enhancers	Liver	Liver
26	chr3:142844400-142845200	Weak transcription	GM12878-XiMat	blood
27	chr3:142844400-142846600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:142844400-142846800	Weak transcription	Fetal Stomach	stomach
29	chr3:142844400-142847400	Weak transcription	NHLF	lung
30	chr3:142844400-142847800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr3:142844400-142849800	Weak transcription	Fetal Brain Female	brain
32	chr3:142844600-142844800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:142844600-142844800	Flanking Active TSS	Fetal Brain Male	brain
34	chr3:142844600-142845000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:142844600-142845200	Weak transcription	Fetal Kidney	kidney
36	chr3:142844600-142845200	Enhancers	K562	blood
37	chr3:142844600-142846400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:142844600-142846600	Genic enhancers	Fetal Thymus	thymus
39	chr3:142844600-142853000	Weak transcription	Primary B cells from cord blood	blood
40	chr3:142844600-142853200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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