Variant report

Variant	rs72821618
Chromosome Location	chr2:63672375-63672376
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	RUNX3	chr2:63671884-63672380	GM12878	blood:	n/a	n/a
2	BHLHE40	chr2:63671879-63672486	GM12878	blood:	n/a	n/a
3	ATF2	chr2:63671735-63672416	GM12878	blood:	n/a	n/a
4	JUND	chr2:63672090-63672391	HepG2	liver:	n/a	chr2:63672225-63672234

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63672019..63673524-chr2:63676207..63678360,2	MCF-7	breast:

Variant related genes	Relation type
WDPCP	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10518986	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72806068	1.00[AFR][1000 genomes]
rs72806087	1.00[AFR][1000 genomes]
rs72821633	0.83[EUR][1000 genomes]

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	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv874235	chr2:63622470-63709708	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63631800-63675800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:63631800-63677200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:63631800-63681200	Weak transcription	Aorta	Aorta
4	chr2:63631800-63688000	Weak transcription	Right Ventricle	heart
5	chr2:63643000-63673200	Weak transcription	Left Ventricle	heart
6	chr2:63652600-63673800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:63653200-63673800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:63654600-63678200	Weak transcription	Psoas Muscle	Psoas
9	chr2:63655000-63679000	Weak transcription	Primary T cells from cord blood	blood
10	chr2:63656200-63675600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:63657400-63675400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:63658800-63674000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:63659200-63679200	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:63659600-63679000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:63661800-63673400	Weak transcription	Fetal Brain Female	brain
16	chr2:63662000-63698000	Weak transcription	Ovary	ovary
17	chr2:63662200-63681400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:63662800-63688000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:63666400-63688000	Weak transcription	Primary B cells from cord blood	blood
20	chr2:63666600-63726800	Weak transcription	Gastric	stomach
21	chr2:63667000-63680600	Weak transcription	Adipose Nuclei	Adipose
22	chr2:63668200-63684800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:63668400-63673400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:63672000-63672400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr2:63672200-63673000	Enhancers	GM12878-XiMat	blood

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