Variant report

Variant	rs28603323
Chromosome Location	chr2:97166743-97166744
allele	C/T
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	PAX5	chr2:97166259-97166908	GM12878	blood:	n/a	n/a
2	TCF3	chr2:97166397-97166784	GM12878	blood:	n/a	n/a
3	PAX5	chr2:97166342-97166769	GM12878	blood:	n/a	n/a
4	EBF1	chr2:97166569-97167596	GM12878	blood:	n/a	chr2:97166770-97166783 chr2:97166714-97166724 chr2:97167207-97167220 chr2:97166772-97166781 chr2:97166715-97166724 chr2:97166772-97166782
5	POLR2A	chr2:97166725-97166847	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
NEURL3	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10175415	0.85[EUR][1000 genomes]
rs10181138	0.81[EUR][1000 genomes]
rs10183941	0.81[EUR][1000 genomes]
rs10203024	0.81[EUR][1000 genomes]
rs10207513	0.81[EUR][1000 genomes]
rs12052336	0.81[EUR][1000 genomes]
rs12614696	0.81[EUR][1000 genomes]
rs1870340	0.81[EUR][1000 genomes]
rs2099674	0.81[EUR][1000 genomes]
rs2118837	0.85[EUR][1000 genomes]
rs2312990	0.81[EUR][1000 genomes]
rs2312991	0.81[EUR][1000 genomes]
rs3731937	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3731939	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58913898	0.81[EUR][1000 genomes]
rs6753263	0.81[EUR][1000 genomes]
rs72939351	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7564763	0.81[EUR][1000 genomes]
rs7580097	0.81[EUR][1000 genomes]
rs7585303	0.81[EUR][1000 genomes]
rs7591754	0.81[EUR][1000 genomes]
rs945747	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
11	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97162200-97167400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:97164200-97167400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:97164200-97167400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:97164200-97167400	Weak transcription	Liver	Liver
5	chr2:97164200-97167800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:97165600-97167800	Bivalent Enhancer	Fetal Thymus	thymus
7	chr2:97165800-97166800	Genic enhancers	Pancreas	Pancrea
8	chr2:97166000-97167000	Bivalent Enhancer	Fetal Heart	heart
9	chr2:97166000-97168400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr2:97166000-97168800	Enhancers	Spleen	Spleen
11	chr2:97166200-97166800	Bivalent Enhancer	Ovary	ovary
12	chr2:97166200-97167200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:97166400-97167400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:97166400-97168000	Enhancers	Colonic Mucosa	Colon
15	chr2:97166400-97169600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:97166400-97170400	Enhancers	Lung	lung
17	chr2:97166600-97166800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:97166600-97166800	Bivalent Enhancer	Adipose Nuclei	Adipose
19	chr2:97166600-97167000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:97166600-97167400	Weak transcription	Right Atrium	heart
21	chr2:97166600-97167800	Weak transcription	Right Ventricle	heart
22	chr2:97166600-97168400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:97166600-97168400	Enhancers	Esophagus	oesophagus
24	chr2:97166600-97168600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:97166600-97168800	Enhancers	GM12878-XiMat	blood
26	chr2:97166600-97169800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr2:97166600-97170000	Weak transcription	Gastric	stomach

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