Variant report

Variant	rs16865453
Chromosome Location	chr2:178484999-178485000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178255830..178259425-chr2:178483453..178485926,4	K562	blood:
2	chr2:178473801..178476229-chr2:178484606..178486491,2	K562	blood:

Variant related genes	Relation type
ENSG00000116044	Chromatin interaction
ENSG00000213963	Chromatin interaction
ENSG00000018510	Chromatin interaction

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];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10497495	1.00[JPT][hapmap]
rs10497498	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];0.88[ASN][1000 genomes]
rs1106074	1.00[JPT][hapmap]
rs1527405	0.85[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1527408	0.85[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs16865443	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];0.87[ASN][1000 genomes]
rs16865444	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];0.88[ASN][1000 genomes]
rs16865446	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];0.87[ASN][1000 genomes]
rs16865448	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];0.88[ASN][1000 genomes]
rs16865449	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];0.90[ASN][1000 genomes]
rs16865452	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16865475	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs16865492	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16865501	0.85[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16865508	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16865509	0.85[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16865514	0.85[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16865524	0.85[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2178018	0.85[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2293472	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2293473	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2365618	0.85[ASN][1000 genomes]
rs2695317	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3731803	0.82[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs3731804	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];0.88[ASN][1000 genomes]
rs3731806	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs3770018	0.82[JPT][hapmap]
rs3813256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3821003	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3821004	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3821005	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs4144277	0.93[ASN][1000 genomes]
rs5025339	0.85[ASN][1000 genomes]
rs58970701	0.85[ASN][1000 genomes]
rs59677452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59963196	0.85[ASN][1000 genomes]
rs61164370	0.84[ASN][1000 genomes]
rs61311927	0.83[ASN][1000 genomes]
rs61425825	0.85[ASN][1000 genomes]
rs61457959	0.85[ASN][1000 genomes]
rs61570618	0.85[ASN][1000 genomes]
rs6745743	1.00[JPT][hapmap]
rs6746845	0.82[JPT][hapmap]
rs9288008	0.82[CHB][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178484000-178487400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:178484000-178499200	Weak transcription	Pancreas	Pancrea
3	chr2:178484200-178487000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:178484200-178487200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:178484200-178487200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:178484200-178487200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:178484200-178487400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:178484200-178487400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:178484200-178487400	Weak transcription	Psoas Muscle	Psoas
10	chr2:178484200-178487600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:178484200-178487600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:178484200-178487600	Weak transcription	HUVEC	blood vessel
13	chr2:178484200-178490600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:178484200-178490600	Weak transcription	Fetal Stomach	stomach
15	chr2:178484200-178490800	Weak transcription	Right Atrium	heart
16	chr2:178484400-178485400	Enhancers	HepG2	liver
17	chr2:178484400-178485600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:178484400-178486800	Weak transcription	Brain Germinal Matrix	brain
19	chr2:178484400-178487000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:178484400-178487000	Weak transcription	Fetal Kidney	kidney
21	chr2:178484400-178487200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:178484400-178487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:178484400-178487200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:178484400-178487200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:178484400-178487200	Weak transcription	Brain Anterior Caudate	brain
26	chr2:178484400-178487200	Weak transcription	Brain Substantia Nigra	brain
27	chr2:178484400-178487400	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:178484400-178487400	Weak transcription	Fetal Brain Male	brain
29	chr2:178484400-178487400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:178484400-178487600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:178484400-178487600	Weak transcription	Liver	Liver
32	chr2:178484400-178490400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:178484400-178490600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:178484400-178490800	Weak transcription	Adipose Nuclei	Adipose
35	chr2:178484400-178490800	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:178484600-178487400	Weak transcription	Fetal Brain Female	brain

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