Variant report

Variant	rs2293472
Chromosome Location	chr2:178487809-178487810
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10497494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10497495	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10497498	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1106074	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs1527405	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs1527408	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs16865443	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16865444	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16865446	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16865448	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16865449	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16865452	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16865453	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs16865475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865492	0.94[JPT][hapmap]
rs16865501	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs16865508	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16865509	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs16865514	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs16865524	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs2178018	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2293473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365618	0.84[ASN][1000 genomes]
rs2695317	0.85[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs3731803	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3731804	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3731806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3770019	0.82[JPT][hapmap]
rs3770022	0.84[JPT][hapmap]
rs3813256	0.94[ASN][1000 genomes]
rs3821003	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3821004	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3821005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4144277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5025339	0.84[ASN][1000 genomes]
rs58970701	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59677452	0.92[ASN][1000 genomes]
rs59963196	0.84[ASN][1000 genomes]
rs61164370	0.89[ASN][1000 genomes]
rs61425825	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61457959	0.84[ASN][1000 genomes]
rs61570618	0.84[ASN][1000 genomes]
rs6745743	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs6746845	0.94[CHB][hapmap]
rs9288008	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv583689	chr2:178468008-178509820	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv1815823	chr2:178479149-178489902	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178484000-178499200	Weak transcription	Pancreas	Pancrea
2	chr2:178484200-178490600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:178484200-178490600	Weak transcription	Fetal Stomach	stomach
4	chr2:178484200-178490800	Weak transcription	Right Atrium	heart
5	chr2:178484400-178490400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:178484400-178490600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:178484400-178490800	Weak transcription	Adipose Nuclei	Adipose
8	chr2:178484400-178490800	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:178485400-178490600	Weak transcription	HepG2	liver
10	chr2:178486800-178488000	Enhancers	Brain Germinal Matrix	brain
11	chr2:178487000-178488000	Enhancers	Fetal Kidney	kidney
12	chr2:178487000-178488400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:178487200-178488000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:178487200-178488000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:178487400-178488000	Enhancers	Fetal Brain Female	brain
16	chr2:178487600-178488000	Enhancers	Liver	Liver
17	chr2:178487600-178488000	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr2:178487600-178491200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:178487800-178488000	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:178487800-178488200	Weak transcription	HUVEC	blood vessel
21	chr2:178487800-178490200	Weak transcription	Fetal Brain Male	brain
22	chr2:178487800-178490600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:178487800-178490600	Weak transcription	Brain Angular Gyrus	brain
24	chr2:178487800-178490600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:178487800-178490800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:178487800-178490800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:178487800-178490800	Weak transcription	Brain Anterior Caudate	brain
28	chr2:178487800-178490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:178487800-178491000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:178487800-178491200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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