Variant report

Variant	rs2281816
Chromosome Location	chr6:33772335-33772336
allele	C/T
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	POLR2A	chr6:33769845-33773080	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33771896..33773520-chr6:33777733..33780554,2	MCF-7	breast:
2	chr6:33772133..33773914-chr6:33977490..33979371,2	K562	blood:

Variant related genes	Relation type
MLN	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1535950	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1547669	0.80[ASW][hapmap]
rs1969844	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2296743	0.93[ASW][hapmap]
rs2296748	0.86[ASW][hapmap]
rs3763257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763258	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763260	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806108	0.93[ASW][hapmap];0.81[MEX][hapmap]
rs3806109	0.93[ASW][hapmap];0.92[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs3806110	0.93[ASW][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4607416	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4713683	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs4713686	0.80[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4713689	0.95[JPT][hapmap]
rs4713691	0.89[ASN][1000 genomes]
rs756137	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs767895	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9380381	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2281816	PPARD	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33757600-33775800	Weak transcription	Right Atrium	heart
2	chr6:33766000-33776000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:33766800-33776400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:33768800-33772400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:33769200-33773200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:33770000-33773000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:33770400-33776000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:33770600-33776200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:33770800-33774400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:33771000-33776200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:33771400-33772400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:33771400-33773200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:33771400-33777000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:33771600-33772400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:33771600-33772800	Enhancers	Fetal Intestine Large	intestine
16	chr6:33771600-33772800	Enhancers	Fetal Intestine Small	intestine
17	chr6:33771600-33774800	Weak transcription	Brain Germinal Matrix	brain
18	chr6:33772000-33772800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:33772200-33772600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:33772200-33775200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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