Variant report

Variant	rs2238203
Chromosome Location	chr14:72759024-72759025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72398725..72399242-chr14:72758933..72759467,2	MCF-7	breast:
2	chr14:72398600..72399168-chr14:72758847..72759362,2	MCF-7	breast:
3	chr14:72570215..72571451-chr14:72758982..72759729,6	MCF-7	breast:
4	chr14:72490629..72491408-chr14:72758856..72759783,5	MCF-7	breast:
5	chr14:72758845..72761499-chr14:72887079..72888301,15	MCF-7	breast:
6	chr14:72398262..72400525-chr14:72758927..72761647,3	MCF-7	breast:
7	chr14:72489255..72491408-chr14:72757396..72759777,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182732	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1002105	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11847225	0.82[CEU][hapmap]
rs11851422	0.82[CEU][hapmap]
rs12147219	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12147220	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12147238	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12147792	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12147803	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12883470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12891167	1.00[CEU][hapmap];0.83[JPT][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12897241	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1402065	0.85[CHB][hapmap];0.86[EUR][1000 genomes]
rs1520327	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1520329	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1589301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17109194	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17109324	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17109573	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17110829	0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1879288	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1981604	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2079501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2238200	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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2238209	0.89[CEU][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2238210	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2238219	0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs2238220	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2238223	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238224	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238225	0.81[CEU][hapmap]
rs2238226	0.82[CEU][hapmap]
rs2238228	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238229	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238230	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238231	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238232	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238233	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238234	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238235	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238236	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238237	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238239	0.90[CEU][hapmap]
rs2238240	0.90[CEU][hapmap]
rs2239252	0.86[CHB][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2239253	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2239254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2239256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2239260	0.83[JPT][hapmap]
rs2239262	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2283393	0.85[CHB][hapmap]
rs2283394	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2283395	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2283399	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2283400	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34122902	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34373542	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34755616	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34905590	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35133217	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs35291137	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35413081	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4324071	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4899429	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4899431	0.86[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4899432	0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4903000	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4903005	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4903008	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4903011	0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55954287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56263585	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66507723	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66823874	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67838629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7156265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7156404	0.82[EUR][1000 genomes]
rs722561	0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs72721816	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8006974	0.80[CEU][hapmap]
rs8013850	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8015237	0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8015476	0.84[CHB][hapmap]
rs8016936	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1041492	chr14:72634606-72768970	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 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	chr14:72756600-72759200	Enhancers	Fetal Brain Male	brain
2	chr14:72756800-72759600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:72757800-72759400	Active TSS	Stomach Smooth Muscle	stomach
4	chr14:72758000-72759600	Enhancers	Fetal Stomach	stomach
5	chr14:72758600-72759200	Enhancers	Adipose Nuclei	Adipose
6	chr14:72758600-72759600	Enhancers	Ovary	ovary
7	chr14:72758800-72759200	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr14:72758800-72759200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr14:72758800-72759200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:72758800-72759200	Enhancers	Fetal Heart	heart
11	chr14:72758800-72759200	Enhancers	Fetal Muscle Leg	muscle
12	chr14:72759000-72759200	Active TSS	Left Ventricle	heart
13	chr14:72759000-72759200	Active TSS	Right Atrium	heart
14	chr14:72759000-72759200	Enhancers	Right Ventricle	heart
15	chr14:72759000-72759200	Bivalent Enhancer	Hela-S3	cervix

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