Variant report

Variant	rs73922723
Chromosome Location	chr2:32599190-32599191
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	chr2:32598274..32601505-chr2:32601760..32604443,3	K562	blood:
2	chr2:32596888..32599492-chr2:32600757..32603688,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58458536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59741037	1.00[AMR][1000 genomes]
rs59743723	1.00[AMR][1000 genomes]
rs59874166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922718	1.00[AMR][1000 genomes]
rs73922721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922724	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922727	1.00[AMR][1000 genomes]
rs73922729	1.00[AMR][1000 genomes]
rs73922730	1.00[AMR][1000 genomes]
rs73922759	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS 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 miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv2751888	chr2:32539236-33331549	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv516173	chr2:32541438-33329957	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS 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 miRNA target site	51 gene(s)	inside rSNPs	diseases
10	esv2763243	chr2:32567339-33331778	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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 miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32583600-32607200	Weak transcription	Placenta	Placenta
2	chr2:32583600-32623000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:32583600-32653200	Weak transcription	Gastric	stomach
4	chr2:32583800-32605600	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:32583800-32649000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:32584200-32605600	Weak transcription	Thymus	Thymus
7	chr2:32584600-32607000	Weak transcription	HMEC	breast
8	chr2:32584600-32609000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:32584800-32606400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:32585000-32607200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:32585200-32600600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:32585200-32607200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:32585400-32601800	Weak transcription	Fetal Intestine Large	intestine
14	chr2:32585400-32602600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:32585400-32607000	Weak transcription	Hela-S3	cervix
16	chr2:32585400-32607400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:32585400-32609000	Weak transcription	NHEK	skin
18	chr2:32585800-32601800	Weak transcription	NHDF-Ad	bronchial
19	chr2:32585800-32602600	Weak transcription	Fetal Lung	lung
20	chr2:32585800-32605800	Weak transcription	HSMM	muscle
21	chr2:32585800-32607200	Weak transcription	NH-A	brain
22	chr2:32585800-32609000	Weak transcription	Fetal Brain Female	brain
23	chr2:32586000-32602600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:32586200-32605400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:32587000-32605200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:32587200-32604000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:32587200-32604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:32587200-32605000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:32587200-32605200	Weak transcription	Dnd41	blood
30	chr2:32587400-32604600	Weak transcription	Fetal Thymus	thymus
31	chr2:32587400-32608600	Weak transcription	Brain Germinal Matrix	brain
32	chr2:32589800-32600600	Weak transcription	GM12878-XiMat	blood
33	chr2:32590000-32601400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:32590000-32601400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:32590000-32607200	Weak transcription	Primary B cells from cord blood	blood
36	chr2:32590200-32607200	Weak transcription	HUVEC	blood vessel
37	chr2:32590400-32600600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:32590400-32602000	Weak transcription	Adipose Nuclei	Adipose
39	chr2:32590400-32603000	Weak transcription	Small Intestine	intestine
40	chr2:32592000-32600400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:32592800-32603000	Weak transcription	Aorta	Aorta
42	chr2:32592800-32609600	Weak transcription	Spleen	Spleen
43	chr2:32593000-32605400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:32593000-32607400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:32593200-32600600	Weak transcription	Fetal Stomach	stomach
46	chr2:32593200-32603200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:32593400-32600600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:32593400-32601600	Weak transcription	A549	lung
49	chr2:32593400-32601600	Weak transcription	Osteobl	bone
50	chr2:32593400-32601800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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