Variant report

Variant	rs11632233
Chromosome Location	chr15:74524730-74524731
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74522465..74524879-chr15:74525973..74528718,2	K562	blood:
2	chr15:74485403..74487595-chr15:74523951..74526382,2	K562	blood:
3	chr15:74516668..74519200-chr15:74524275..74526738,2	MCF-7	breast:
4	chr15:74522433..74524879-chr15:74525973..74529290,3	K562	blood:

Variant related genes	Relation type
ENSG00000140481	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11629834	0.80[CEU][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs11633101	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11633321	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11638601	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11639316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12898529	0.84[JPT][hapmap];0.82[YRI][hapmap];0.83[ASN][1000 genomes]
rs12904523	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12905224	0.86[ASN][1000 genomes]
rs12905234	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12905362	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12913344	0.80[CEU][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs12913651	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1564784	0.87[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs168432	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs189497	0.80[CEU][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs351153	0.86[ASN][1000 genomes]
rs351159	0.81[JPT][hapmap];0.82[MEX][hapmap]
rs351174	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs351175	0.86[JPT][hapmap];0.87[MEX][hapmap]
rs351178	0.81[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap]
rs351180	0.98[ASN][1000 genomes]
rs351181	0.98[ASN][1000 genomes]
rs368416	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs3848162	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs392267	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6495091	0.82[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap]
rs67882706	0.92[ASN][1000 genomes]
rs901128	0.83[CEU][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv471253	chr15:74489207-74545148	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv904349	chr15:74500105-74542686	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv904350	chr15:74500105-74548773	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11632233	CORO2B	cis	parietal	SCAN
rs11632233	SCAMP2	cis	cerebellum	SCAN
rs11632233	CELF6	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74521400-74525400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:74521400-74526400	Weak transcription	Stomach Mucosa	stomach
3	chr15:74521400-74528400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:74521600-74526800	Weak transcription	Colonic Mucosa	Colon
5	chr15:74521800-74525400	Weak transcription	Fetal Lung	lung
6	chr15:74522400-74525800	Weak transcription	Fetal Brain Female	brain
7	chr15:74522600-74525400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr15:74522600-74525600	Weak transcription	Fetal Brain Male	brain
9	chr15:74522600-74526400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:74523400-74526800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:74523600-74525200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:74523600-74526200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:74524000-74525000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:74524600-74524800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:74524600-74525200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr15:74524600-74525200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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