Variant report

Variant	rs228867
Chromosome Location	chr6:134268822-134268823
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	GATA1	chr6:134268412-134269158	PBDE	blood:	n/a	n/a
2	GATA2	chr6:134268226-134268904	SH-SY5Y	brain:	n/a	n/a
3	CTCF	chr6:134268700-134268850	BE2_C	brain:	n/a	n/a
4	EP300	chr6:134268362-134268862	SK-N-SH_RA	brain:	n/a	n/a
5	TAL1	chr6:134268655-134268895	K562	blood:	n/a	n/a
6	GATA3	chr6:134268469-134268978	SH-SY5Y	brain:	n/a	n/a
7	EP300	chr6:134268405-134268895	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134259055..134262632-chr6:134266342..134269518,3	K562	blood:

Variant related genes	Relation type
TBPL1	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11154754	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1385067	0.89[EUR][1000 genomes]
rs162191	0.85[ASN][1000 genomes]
rs162192	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs167876	0.83[ASN][1000 genomes]
rs1980503	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs2076583	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2300197	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2327437	0.85[EUR][1000 genomes]
rs35776966	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs3756877	0.91[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs380825	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs459625	0.91[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6569920	0.96[CEU][hapmap]
rs9321423	0.96[CEU][hapmap];0.92[GIH][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs9321424	0.81[ASN][1000 genomes]
rs9373073	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs9375994	0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs9385674	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs9385675	0.81[GIH][hapmap]
rs9399083	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs9402553	0.88[ASN][1000 genomes]
rs9402554	0.96[CEU][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv604701	chr6:134248060-134269657	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3473402	chr6:134267059-134271657	Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3506986	chr6:134268284-134270782	Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv3473405	chr6:134268445-134270284	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv511916	chr6:134268592-134269877	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv8603	chr6:134268751-134269959	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv1840176	chr6:134268822-134274297	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134266600-134272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:134266800-134272200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:134267000-134272200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:134267800-134271600	Enhancers	Liver	Liver
5	chr6:134268000-134269000	Enhancers	K562	blood
6	chr6:134268000-134270200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr6:134268000-134270400	Enhancers	Duodenum Mucosa	Duodenum
8	chr6:134268000-134270400	Enhancers	Pancreas	Pancrea
9	chr6:134268200-134269200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:134268200-134269600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:134268200-134270000	Weak transcription	Gastric	stomach
12	chr6:134268200-134270600	Enhancers	Stomach Mucosa	stomach
13	chr6:134268400-134272200	Weak transcription	Aorta	Aorta
14	chr6:134268600-134272400	Weak transcription	Fetal Brain Female	brain

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