Variant report

Variant	rs73927881
Chromosome Location	chr2:46761297-46761298
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	chr2:46761089..46765156-chr2:46769193..46772808,5	K562	blood:
2	chr2:46760904..46763174-chr2:46763774..46765931,2	K562	blood:

Variant related genes	Relation type
ENSG00000250565	Chromatin interaction
ENSG00000119729	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs41395646	0.85[AFR][1000 genomes]
rs55995301	0.89[AFR][1000 genomes]
rs73927885	0.89[AFR][1000 genomes]
rs73927886	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46744800-46761800	Weak transcription	A549	lung
2	chr2:46746400-46762800	Weak transcription	Liver	Liver
3	chr2:46747800-46766800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:46748800-46766400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:46748800-46767800	Weak transcription	HSMM	muscle
6	chr2:46748800-46768400	Weak transcription	Ovary	ovary
7	chr2:46752000-46762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:46752000-46766000	Weak transcription	Brain Substantia Nigra	brain
9	chr2:46753000-46767800	Weak transcription	Placenta	Placenta
10	chr2:46753600-46761800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:46753600-46768000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:46755800-46761800	Weak transcription	Aorta	Aorta
13	chr2:46755800-46767800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:46756000-46766400	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:46756400-46762200	Weak transcription	Thymus	Thymus
16	chr2:46756400-46768200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:46756600-46762000	Weak transcription	Brain Anterior Caudate	brain
18	chr2:46756600-46767800	Weak transcription	Pancreas	Pancrea
19	chr2:46757000-46764200	Weak transcription	Left Ventricle	heart
20	chr2:46757400-46762000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:46757800-46765200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:46759200-46761600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:46759400-46762000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:46759800-46761600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:46760200-46761400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:46760200-46768000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:46760600-46767200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:46760800-46766800	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:46760800-46767800	Weak transcription	Fetal Lung	lung
30	chr2:46761000-46761600	Enhancers	GM12878-XiMat	blood
31	chr2:46761000-46761800	Enhancers	Primary B cells from cord blood	blood
32	chr2:46761000-46761800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr2:46761000-46762000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:46761000-46767800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:46761200-46761600	Enhancers	Primary T cells from cord blood	blood
36	chr2:46761200-46761600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr2:46761200-46761800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr2:46761200-46761800	Enhancers	Primary T cells fromperipheralblood	blood
39	chr2:46761200-46761800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr2:46761200-46761800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr2:46761200-46761800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr2:46761200-46762600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:46761200-46763600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:46761200-46763800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:46761200-46764000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr2:46761200-46767800	Weak transcription	NHEK	skin
47	chr2:46761200-46768600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr2:46761200-46768800	Enhancers	Primary B cells from peripheral blood	blood

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