Variant report

Variant	rs72994426
Chromosome Location	chr3:142846887-142846888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr3:142846600-142846958	A549	lung:	n/a	chr3:142846818-142846834 chr3:142846818-142846834 chr3:142846813-142846839 chr3:142846819-142846833 chr3:142846715-142846741 chr3:142846813-142846839 chr3:142846813-142846839 chr3:142846818-142846834 chr3:142846819-142846833 chr3:142846816-142846837 chr3:142846818-142846834 chr3:142846715-142846741 chr3:142846813-142846839
2	POLR2A	chr3:142844543-142847030	GM12891	blood:	n/a	n/a
3	POLR2A	chr3:142846114-142847200	K562	blood:	n/a	n/a
4	POLR2A	chr3:142846109-142846979	GM12891	blood:	n/a	n/a
5	POLR2A	chr3:142843371-142847565	GM12891	blood:	n/a	n/a
6	POLR2A	chr3:142841403-142847174	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:142845393..142847101-chr3:143393090..143394841,2	K562	blood:
2	chr3:142821256..142825372-chr3:142845694..142848578,3	K562	blood:
3	chr3:142821256..142824005-chr3:142845694..142847752,2	K562	blood:

Variant related genes	Relation type
ENSG00000241679	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16852993	1.00[EUR][1000 genomes]
rs6765253	0.83[AMR][1000 genomes]
rs72994431	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9289655	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9880058	0.83[AMR][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	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
2	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
3	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
4	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
5	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142839200-142847200	Transcr. at gene 5' and 3'	Fetal Lung	lung
2	chr3:142840600-142854600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:142841000-142848600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:142841200-142852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:142841200-142853200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:142841200-142858000	Weak transcription	Spleen	Spleen
7	chr3:142844000-142848600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:142844000-142853200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:142844200-142853400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:142844400-142847400	Weak transcription	NHLF	lung
11	chr3:142844400-142847800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:142844400-142849800	Weak transcription	Fetal Brain Female	brain
13	chr3:142844600-142853000	Weak transcription	Primary B cells from cord blood	blood
14	chr3:142844600-142853200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:142844800-142847800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:142844800-142852600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr3:142844800-142858200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:142845600-142847000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:142845600-142848200	Enhancers	K562	blood
20	chr3:142845800-142847000	Strong transcription	Primary T cells from cord blood	blood
21	chr3:142845800-142849400	Weak transcription	Fetal Kidney	kidney
22	chr3:142845800-142858200	Weak transcription	Fetal Brain Male	brain
23	chr3:142846200-142847200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:142846400-142847400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr3:142846400-142847600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:142846600-142847000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:142846600-142847200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:142846600-142847400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:142846600-142847400	Flanking Active TSS	GM12878-XiMat	blood
30	chr3:142846600-142848400	Strong transcription	Fetal Thymus	thymus
31	chr3:142846800-142847000	Genic enhancers	Dnd41	blood
32	chr3:142846800-142847400	Enhancers	Fetal Stomach	stomach
33	chr3:142846800-142852400	Weak transcription	Monocytes-CD14+_RO01746	blood

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