Variant report

Variant	rs2238200
Chromosome Location	chr14:72777483-72777484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1002105	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs12147219	0.90[CEU][hapmap];0.85[AMR][1000 genomes]
rs12147220	0.90[CEU][hapmap];0.85[AMR][1000 genomes]
rs12147238	0.85[AMR][1000 genomes]
rs12147792	0.85[AMR][1000 genomes]
rs12147803	0.90[CEU][hapmap];0.85[AMR][1000 genomes]
rs12883470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12891167	0.90[CEU][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12897241	0.90[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1402065	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs1520327	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1520329	0.90[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1589301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17109194	0.90[CEU][hapmap];0.85[AMR][1000 genomes]
rs17109324	0.85[AMR][1000 genomes]
rs17109573	0.90[CEU][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17110829	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17111029	0.81[EUR][1000 genomes]
rs1879288	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1981604	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2079501	0.86[CHB][hapmap];0.84[JPT][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2238193	0.81[EUR][1000 genomes]
rs2238198	0.80[CHB][hapmap]
rs2238203	0.90[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2238208	0.90[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2238209	0.80[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2238210	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2238220	0.90[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238223	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2238224	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2238228	0.89[CEU][hapmap];0.85[AMR][1000 genomes]
rs2238229	0.90[CEU][hapmap];0.85[AMR][1000 genomes]
rs2238230	0.90[CEU][hapmap];0.85[AMR][1000 genomes]
rs2238231	0.85[AMR][1000 genomes]
rs2238232	0.90[CEU][hapmap];0.85[AMR][1000 genomes]
rs2238233	0.90[CEU][hapmap];0.85[AMR][1000 genomes]
rs2238234	0.90[CEU][hapmap];0.85[AMR][1000 genomes]
rs2238235	0.88[CEU][hapmap];0.85[AMR][1000 genomes]
rs2238236	0.89[CEU][hapmap];0.85[AMR][1000 genomes]
rs2238237	0.90[CEU][hapmap];0.85[AMR][1000 genomes]
rs2238239	0.81[CEU][hapmap]
rs2238240	0.81[CEU][hapmap]
rs2239236	0.81[EUR][1000 genomes]
rs2239240	0.81[EUR][1000 genomes]
rs2239242	0.81[EUR][1000 genomes]
rs2239245	0.83[EUR][1000 genomes]
rs2239252	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2239253	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2239254	0.90[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2239256	0.90[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap]
rs2239262	0.90[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2283389	0.83[EUR][1000 genomes]
rs2283393	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2283394	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283395	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283399	0.90[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2283400	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34122902	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34373542	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34755616	0.93[AMR][1000 genomes]
rs34905590	0.85[AMR][1000 genomes]
rs35133217	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35291137	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35413081	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4324071	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4899429	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4899431	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4899432	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4903000	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4903005	0.90[CEU][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4903008	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs4903011	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55954287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56263585	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66507723	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs66823874	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67838629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7155750	0.81[EUR][1000 genomes]
rs7156265	0.90[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72721816	0.85[AMR][1000 genomes]
rs8013850	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8015237	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8015476	1.00[CHB][hapmap];0.89[JPT][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72775000-72778800	Enhancers	Fetal Kidney	kidney
2	chr14:72775000-72779400	Enhancers	Fetal Lung	lung
3	chr14:72775400-72780200	Enhancers	Colon Smooth Muscle	Colon
4	chr14:72775400-72782800	Enhancers	Fetal Stomach	stomach
5	chr14:72775600-72779400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:72775800-72780200	Enhancers	Ovary	ovary
7	chr14:72776000-72778600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:72776400-72779000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:72776600-72779000	Enhancers	Brain Germinal Matrix	brain
10	chr14:72776800-72777600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:72776800-72777600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:72776800-72777600	Enhancers	Left Ventricle	heart
13	chr14:72776800-72777800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:72776800-72778400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:72776800-72779400	Weak transcription	Fetal Heart	heart
16	chr14:72777000-72778000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:72777400-72778000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr14:72777400-72778200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:72777400-72778400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:72777400-72778600	Enhancers	Placenta Amnion	Placenta Amnion

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