Variant report

Variant	rs6729792
Chromosome Location	chr2:33734882-33734883
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	EP300	chr2:33734628-33735595	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr2:33734570-33735259	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33729626..33732550-chr2:33733058..33735608,2	K562	blood:

Variant related genes	Relation type
RASGRP3	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10200743	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2124439	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2305573	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4670648	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7581376	0.82[AMR][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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	esv1829750	chr2:33704194-33740571	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6729792	FAM98A	Cis_1M	lymphoblastoid	RTeQTL
rs6729792	RASGRP3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
2	chr2:33712200-33747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:33727000-33737000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:33728800-33750800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:33729000-33737400	Enhancers	Brain Substantia Nigra	brain
6	chr2:33729200-33736200	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:33729800-33740200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:33730000-33735400	Weak transcription	Right Ventricle	heart
9	chr2:33730000-33751600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:33730200-33735400	Weak transcription	Psoas Muscle	Psoas
11	chr2:33731400-33740200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:33732000-33735000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:33732600-33735400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:33732600-33735600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:33732600-33745800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:33733000-33735400	Enhancers	GM12878-XiMat	blood
17	chr2:33733200-33735600	Enhancers	Fetal Heart	heart
18	chr2:33733400-33736600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:33733800-33736000	Weak transcription	Brain Angular Gyrus	brain
20	chr2:33734200-33735400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr2:33734200-33735400	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:33734400-33735400	Weak transcription	Left Ventricle	heart

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