Variant report

Variant	rs2057361
Chromosome Location	chr14:68585108-68585109
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10129612	0.88[JPT][hapmap]
rs10132711	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs10132828	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs10133770	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10134124	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10134320	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10134664	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10135046	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10135256	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10135316	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10135925	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10137330	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10137457	1.00[JPT][hapmap]
rs10137712	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10140465	0.92[ASN][1000 genomes]
rs10141018	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10143219	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10143895	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10144128	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10144224	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10145197	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10145820	0.91[ASN][1000 genomes]
rs10146719	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10146766	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10146831	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs10147311	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10147569	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10148713	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10149801	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10150584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10150789	0.92[ASN][1000 genomes]
rs10151123	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10151317	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10450891	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10873211	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10873212	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158710	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs11158720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158721	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11844842	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11847339	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11849196	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11851597	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11851991	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104774	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs17104783	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17104786	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs17104793	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs17104796	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs17104799	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs17104823	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs17104824	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs17104827	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs17104829	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs17104862	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17104863	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17104880	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17104900	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17104917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104947	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17104953	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17104992	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17105001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1950766	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1951411	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2180537	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2767364	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28372014	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28448732	0.91[ASN][1000 genomes]
rs28716846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34370899	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902548	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902550	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60562079	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60841871	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6573802	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs6573806	0.81[ASN][1000 genomes]
rs6573815	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573816	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7145089	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7147296	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs7147522	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7147935	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7148799	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7149343	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7149460	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs7150716	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7153978	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7154228	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7154645	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7154725	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs7155152	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7157152	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7157550	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs7157720	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs7160068	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7161070	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73286292	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7359083	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8007347	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8008413	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8008791	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs8011367	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8012493	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8013061	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8015741	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs8018029	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8020512	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs957930	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9652362	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs9652363	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs9652364	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs9672111	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9796374	0.85[CHB][hapmap];0.89[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68573800-68591800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68576400-68592000	Weak transcription	Psoas Muscle	Psoas
3	chr14:68578600-68592800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr14:68578800-68590800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:68580600-68598200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:68580800-68585400	Weak transcription	Fetal Lung	lung
7	chr14:68581000-68586800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:68583600-68593800	Weak transcription	Stomach Mucosa	stomach
9	chr14:68584600-68585400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr14:68584600-68585800	Enhancers	Fetal Heart	heart
11	chr14:68584800-68585200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr14:68584800-68586200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:68585000-68585400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:68585000-68585400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr14:68585000-68585400	Enhancers	Fetal Brain Female	brain

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