Variant report

Variant	rs12614974
Chromosome Location	chr2:210287968-210287969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:210287797-210289144	SK-N-SH	brain:	n/a	chr2:210288515-210288529 chr2:210288517-210288531
2	SMC3	chr2:210287941-210290818	SK-N-SH	brain:	n/a	chr2:210288753-210288763 chr2:210289557-210289565
3	GATA3	chr2:210287921-210287985	SH-SY5Y	brain:	n/a	n/a
4	CTCF	chr2:210287835-210290855	SK-N-SH	brain:	n/a	chr2:210288750-210288763 chr2:210289976-210289992 chr2:210289198-210289211
5	CTCF	chr2:210287958-210289715	A549	lung:	n/a	chr2:210288750-210288763 chr2:210289198-210289211

Variant related genes	Relation type
MAP2	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10153809	0.95[ASN][1000 genomes]
rs10174291	0.95[ASN][1000 genomes]
rs10182475	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10185216	0.84[ASN][1000 genomes]
rs10200389	0.95[ASN][1000 genomes]
rs10200539	0.95[ASN][1000 genomes]
rs10210266	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10932297	0.95[ASN][1000 genomes]
rs10932301	0.95[ASN][1000 genomes]
rs11678209	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11889366	0.95[ASN][1000 genomes]
rs11900413	0.99[ASN][1000 genomes]
rs11904626	0.95[ASN][1000 genomes]
rs12613165	1.00[JPT][hapmap]
rs12614926	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12615372	0.88[CEU][hapmap]
rs12617330	0.97[ASN][1000 genomes]
rs12620654	0.88[CEU][hapmap]
rs12621534	0.97[ASN][1000 genomes]
rs12622130	0.97[ASN][1000 genomes]
rs12623404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12623555	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12694180	0.95[ASN][1000 genomes]
rs13005529	0.95[ASN][1000 genomes]
rs13023264	0.95[ASN][1000 genomes]
rs13024490	0.97[ASN][1000 genomes]
rs13028173	0.97[ASN][1000 genomes]
rs13028553	0.97[ASN][1000 genomes]
rs13033819	0.93[ASN][1000 genomes]
rs13034750	0.93[ASN][1000 genomes]
rs13391766	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13391768	0.93[ASN][1000 genomes]
rs1374333	0.97[ASN][1000 genomes]
rs1446593	1.00[JPT][hapmap]
rs1446596	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16842875	0.97[ASN][1000 genomes]
rs16842884	0.97[ASN][1000 genomes]
rs17236116	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2028893	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2123701	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2198478	0.88[CEU][hapmap]
rs2219085	0.88[CEU][hapmap]
rs2365657	0.88[CEU][hapmap]
rs28556312	0.95[ASN][1000 genomes]
rs28558587	0.90[ASN][1000 genomes]
rs28610349	0.95[ASN][1000 genomes]
rs288057	0.88[CEU][hapmap]
rs288065	0.88[CEU][hapmap]
rs288068	0.88[CEU][hapmap]
rs35424736	0.87[ASN][1000 genomes]
rs60358187	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6435528	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6435529	0.95[ASN][1000 genomes]
rs6733750	0.95[ASN][1000 genomes]
rs6744370	1.00[ASW][hapmap]
rs6751612	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6761283	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs72492734	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72995681	0.95[ASN][1000 genomes]
rs73060566	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7557610	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7563521	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7568431	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7568858	0.97[ASN][1000 genomes]
rs7569773	0.95[ASN][1000 genomes]
rs7575409	0.97[ASN][1000 genomes]
rs7577392	0.99[ASN][1000 genomes]
rs7580883	0.82[ASN][1000 genomes]
rs7593008	0.82[ASN][1000 genomes]
rs7593381	0.88[CEU][hapmap]
rs7594469	0.89[ASN][1000 genomes]
rs7594842	0.95[ASN][1000 genomes]
rs7595924	0.95[ASN][1000 genomes]
rs7602104	0.97[ASN][1000 genomes]
rs7608377	0.95[ASN][1000 genomes]
rs7608854	0.95[ASN][1000 genomes]
rs9288407	0.95[ASN][1000 genomes]
rs992028	0.95[ASN][1000 genomes]
rs993784	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9967799	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1005298	chr2:210277791-210318067	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210279000-210288400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:210285400-210288200	Weak transcription	Psoas Muscle	Psoas
3	chr2:210286800-210288200	Enhancers	NHEK	skin
4	chr2:210287000-210288000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:210287200-210288200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:210287200-210288200	Weak transcription	Pancreas	Pancrea
7	chr2:210287200-210288200	Enhancers	HMEC	breast
8	chr2:210287200-210288400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:210287400-210288000	Weak transcription	Esophagus	oesophagus
10	chr2:210287800-210288000	Enhancers	Brain Anterior Caudate	brain
11	chr2:210287800-210288000	Enhancers	Brain Hippocampus Middle	brain
12	chr2:210287800-210288000	Enhancers	Stomach Smooth Muscle	stomach
13	chr2:210287800-210289000	Active TSS	Fetal Brain Female	brain

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