Variant report

Variant	rs2242074
Chromosome Location	chr2:208989037-208989038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10181061	0.83[ASN][1000 genomes]
rs10191034	0.86[ASN][1000 genomes]
rs10200650	0.91[ASN][1000 genomes]
rs11690925	0.90[ASN][1000 genomes]
rs12474533	0.86[ASN][1000 genomes]
rs2601488	0.83[MEX][hapmap]
rs28446183	0.86[ASN][1000 genomes]
rs28453013	0.86[ASN][1000 genomes]
rs34680432	0.86[ASN][1000 genomes]
rs6746206	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7355261	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875744	chr2:208952810-208994045	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv875745	chr2:208969865-208994045	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875746	chr2:208971007-208989708	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3443711	chr2:208977244-208989245	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2242074	ADAM23	cis	parietal	SCAN
rs2242074	CRYGA	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208984600-208994200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:208987600-208989200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:208988200-208990400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:208988400-208989600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:208988400-208989800	Active TSS	Fetal Brain Female	brain
6	chr2:208988400-208990000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:208988600-208989400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:208988600-208989400	Active TSS	Brain Angular Gyrus	brain
9	chr2:208988600-208989400	Active TSS	Ovary	ovary
10	chr2:208988600-208989600	Active TSS	Fetal Brain Male	brain
11	chr2:208988600-208989600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
12	chr2:208988600-208989800	Active TSS	Brain Anterior Caudate	brain
13	chr2:208988800-208989200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr2:208988800-208989200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:208988800-208989200	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr2:208988800-208989200	Bivalent Enhancer	Left Ventricle	heart
17	chr2:208988800-208989400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr2:208988800-208989400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr2:208988800-208989400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:208988800-208989400	Active TSS	Primary hematopoietic stem cells	blood
21	chr2:208988800-208989400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:208988800-208989400	Enhancers	Fetal Heart	heart
23	chr2:208988800-208989400	Enhancers	Pancreas	Pancrea
24	chr2:208988800-208989600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr2:208988800-208989600	Bivalent Enhancer	Primary B cells from cord blood	blood
26	chr2:208988800-208989600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr2:208988800-208989600	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr2:208988800-208989600	Active TSS	Brain Germinal Matrix	brain
29	chr2:208988800-208989600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:208988800-208989800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr2:208988800-208989800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:208989000-208989200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr2:208989000-208989200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:208989000-208989200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:208989000-208989200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
36	chr2:208989000-208989200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr2:208989000-208989200	Bivalent/Poised TSS	Fetal Stomach	stomach
38	chr2:208989000-208989200	Enhancers	Gastric	stomach
39	chr2:208989000-208989200	Flanking Active TSS	Psoas Muscle	Psoas
40	chr2:208989000-208989200	Flanking Active TSS	Right Atrium	heart
41	chr2:208989000-208989200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
42	chr2:208989000-208989200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
43	chr2:208989000-208989200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr2:208989000-208989200	Flanking Bivalent TSS/Enh	NHEK	skin
45	chr2:208989000-208989400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr2:208989000-208989400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:208989000-208989400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr2:208989000-208989400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr2:208989000-208989400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:208989000-208989400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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