Variant report

Variant	rs4902309
Chromosome Location	chr14:65238171-65238172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65236406..65238407-chr14:65243538..65245205,2	MCF-7	breast:
2	chr14:65233747..65236577-chr14:65237458..65240181,3	MCF-7	breast:
3	chr14:65228571..65230155-chr14:65235739..65238455,2	K562	blood:
4	chr14:65235455..65238198-chr14:65239523..65242367,2	K562	blood:
5	chr14:64968342..64970352-chr14:65235886..65238559,2	MCF-7	breast:
6	chr14:65227919..65230155-chr14:65235739..65238455,3	K562	blood:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11622977	0.90[CEU][hapmap]
rs11623956	1.00[CEU][hapmap]
rs12433745	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17102053	0.91[CEU][hapmap]
rs17102318	1.00[JPT][hapmap]
rs17180217	0.91[CEU][hapmap]
rs17180252	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17180350	0.83[CEU][hapmap]
rs17180497	1.00[CEU][hapmap]
rs17180616	0.83[CEU][hapmap]
rs17767466	1.00[CEU][hapmap]
rs2182034	1.00[JPT][hapmap]
rs2269305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs2269306	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes]
rs2269307	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs2269308	1.00[CEU][hapmap];1.00[MEX][hapmap];0.83[AFR][1000 genomes]
rs229597	0.91[CEU][hapmap]
rs229598	1.00[CHB][hapmap]
rs4899144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902310	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902311	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902312	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902313	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902314	1.00[CEU][hapmap]
rs7141792	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs7142689	0.91[CEU][hapmap]
rs7157344	0.89[CEU][hapmap]
rs7157527	0.91[CEU][hapmap]
rs7157684	1.00[CHB][hapmap]
rs7158780	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs747858	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv902025	chr14:65229364-65246181	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv519823	chr14:65230059-65241933	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65229600-65246200	Weak transcription	Psoas Muscle	Psoas
3	chr14:65231600-65242400	Strong transcription	Right Ventricle	heart
4	chr14:65231600-65244000	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:65231600-65244400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:65231600-65250600	Weak transcription	Brain Angular Gyrus	brain
7	chr14:65231600-65250600	Weak transcription	Brain Anterior Caudate	brain
8	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:65232000-65246000	Weak transcription	Pancreas	Pancrea
10	chr14:65232200-65239400	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:65232200-65244600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:65232200-65274200	Weak transcription	Gastric	stomach
13	chr14:65232600-65242600	Strong transcription	K562	blood
14	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
15	chr14:65233600-65242400	Strong transcription	Left Ventricle	heart
16	chr14:65234800-65241000	Weak transcription	Spleen	Spleen
17	chr14:65235600-65239800	Strong transcription	Brain Germinal Matrix	brain
18	chr14:65236000-65239400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:65236000-65239600	Weak transcription	Fetal Heart	heart
20	chr14:65236200-65239200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:65236200-65239600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:65237000-65239000	Enhancers	Primary T cells from cord blood	blood
23	chr14:65237000-65239200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:65237000-65242600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:65237200-65239200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr14:65237200-65240000	Strong transcription	Fetal Muscle Leg	muscle
27	chr14:65237400-65238600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr14:65237400-65238800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr14:65237400-65239000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr14:65237400-65239000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:65237400-65239200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr14:65237400-65239200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:65237400-65242400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr14:65237600-65238800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:65237600-65238800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:65237800-65238800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr14:65237800-65239000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr14:65237800-65240200	Strong transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:65238000-65238400	Weak transcription	Fetal Brain Female	brain
40	chr14:65238000-65239200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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