Variant report

Variant	rs2120134
Chromosome Location	chr14:32162203-32162204
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10131398	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs10131543	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs10132839	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs10133374	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134196	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs10138578	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs10138795	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139898	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs10139963	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs10140944	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148949	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11156691	1.00[YRI][hapmap]
rs11156692	1.00[YRI][hapmap]
rs11156699	1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11624477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628555	1.00[YRI][hapmap]
rs12050202	0.80[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12050415	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12433808	1.00[YRI][hapmap]
rs12882018	0.89[YRI][hapmap]
rs12897779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1367317	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs1373013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1373014	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1373015	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17098061	0.89[YRI][hapmap]
rs2378896	0.80[YRI][hapmap]
rs2378897	0.87[YRI][hapmap]
rs4981115	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981892	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs59626793	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571457	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6571461	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7146010	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147785	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs7153589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253205	1.00[ASN][1000 genomes]
rs7493492	0.85[YRI][hapmap]
rs8008383	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009008	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013999	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8015946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018230	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8020297	0.90[CEU][hapmap]
rs9989137	0.91[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
4	nsv901591	chr14:32093548-32202677	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv901592	chr14:32093548-32267323	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	esv3414517	chr14:32144250-32168719	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32135800-32170800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr14:32141400-32175800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:32142200-32166200	Weak transcription	Primary B cells from cord blood	blood
4	chr14:32145600-32170600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr14:32148000-32183600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:32148400-32165400	Weak transcription	HepG2	liver
7	chr14:32152400-32173000	Weak transcription	Ovary	ovary
8	chr14:32153800-32170600	Weak transcription	Primary T cells from cord blood	blood
9	chr14:32155400-32173000	Weak transcription	Aorta	Aorta
10	chr14:32159000-32184800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:32160800-32162600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:32161600-32162400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr14:32161800-32164400	Weak transcription	Brain Substantia Nigra	brain
14	chr14:32162000-32165400	Weak transcription	Right Ventricle	heart
15	chr14:32162000-32171800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:32162000-32175000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:32162000-32186800	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:32162200-32162600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr14:32162200-32165400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:32162200-32165400	Weak transcription	Liver	Liver
21	chr14:32162200-32172400	Weak transcription	Adipose Nuclei	Adipose

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