Variant report

Variant	rs2594701
Chromosome Location	chr2:187560820-187560821
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	MXI1	chr2:187557978-187560961	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187560603..187562603-chr2:187566920..187568665,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227227	TF binding region

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10178617	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211436	1.00[ASN][1000 genomes]
rs13407063	1.00[ASN][1000 genomes]
rs13413716	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422838	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430921	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17406098	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442317	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594700	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595380	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595381	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595382	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595391	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595392	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595394	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682850	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682851	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682855	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682857	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682862	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682875	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28616716	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3114944	1.00[ASN][1000 genomes]
rs55666589	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56088351	0.89[EUR][1000 genomes]
rs62196179	1.00[ASN][1000 genomes]
rs62197740	1.00[ASN][1000 genomes]
rs62200585	1.00[ASN][1000 genomes]
rs7564965	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187558000-187563000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr2:187558200-187561200	Active TSS	Brain Angular Gyrus	brain
3	chr2:187558200-187561200	Active TSS	Brain Anterior Caudate	brain
4	chr2:187558600-187561000	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr2:187558600-187561200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:187558600-187561200	Active TSS	Brain Germinal Matrix	brain
7	chr2:187558600-187561200	Active TSS	Fetal Brain Female	brain
8	chr2:187558600-187561400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:187558800-187561200	Active TSS	Fetal Brain Male	brain
10	chr2:187559600-187561200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:187560200-187561000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:187560400-187561000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:187560400-187579400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:187560600-187561000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:187560600-187561000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr2:187560600-187561000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:187560600-187561200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:187560600-187561200	Active TSS	Brain Cingulate Gyrus	brain
19	chr2:187560600-187561200	Weak transcription	Brain Substantia Nigra	brain
20	chr2:187560600-187561200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:187560600-187561400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:187560600-187561400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:187560600-187562000	Weak transcription	HUVEC	blood vessel
24	chr2:187560600-187562000	Weak transcription	NH-A	brain
25	chr2:187560600-187562200	Weak transcription	NHDF-Ad	bronchial
26	chr2:187560600-187563800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:187560600-187566800	Weak transcription	Fetal Kidney	kidney
28	chr2:187560600-187575400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:187560600-187582200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:187560600-187584200	Weak transcription	Fetal Lung	lung
31	chr2:187560800-187561000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:187560800-187561000	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr2:187560800-187561400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:187560800-187562000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:187560800-187562000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:187560800-187562000	Weak transcription	Osteobl	bone
37	chr2:187560800-187562200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:187560800-187563600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:187560800-187564600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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