Variant report

Variant	rs12805520
Chromosome Location	chr11:85630411-85630412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85630241..85632825-chr11:85647481..85649269,2	K562	blood:
2	chr11:85627451..85630538-chr11:85632565..85635879,3	K562	blood:

Variant related genes	Relation type
ENSG00000255005	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10501599	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs10501601	0.82[CHB][hapmap]
rs10501602	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10898422	0.81[CHD][hapmap]
rs11234450	0.81[CHD][hapmap]
rs11234465	0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs11234467	0.82[CHB][hapmap]
rs11821654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274739	0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs12274987	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs12283410	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs12286210	0.82[ASN][1000 genomes]
rs12286312	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs12362209	0.81[CHD][hapmap]
rs12787412	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs12787418	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12787556	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12787654	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12788654	0.80[AMR][1000 genomes]
rs12788680	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12790645	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12791520	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12794211	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs12795381	1.00[CEU][hapmap]
rs12795833	1.00[CEU][hapmap]
rs12798065	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12798229	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12798898	0.88[EUR][1000 genomes]
rs12802064	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802399	1.00[CEU][hapmap]
rs12804751	0.81[EUR][1000 genomes]
rs1445508	0.82[CHB][hapmap]
rs17148564	1.00[JPT][hapmap]
rs17148574	0.82[CHB][hapmap]
rs17148585	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17148704	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs17744745	0.88[ASN][1000 genomes]
rs17745024	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17745409	0.82[CHB][hapmap]
rs17817402	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs17817444	0.82[CHB][hapmap]
rs17817600	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17817648	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs17817931	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs17817992	1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[AMR][1000 genomes]
rs28365806	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3213934	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34003294	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34223518	0.83[EUR][1000 genomes]
rs34332755	0.84[EUR][1000 genomes]
rs34584483	0.88[EUR][1000 genomes]
rs34609418	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34631477	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34675784	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34700169	0.86[EUR][1000 genomes]
rs34874199	0.88[EUR][1000 genomes]
rs35220752	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35519080	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35585561	0.84[EUR][1000 genomes]
rs35866111	0.88[EUR][1000 genomes]
rs35992035	0.84[EUR][1000 genomes]
rs41489645	0.84[EUR][1000 genomes]
rs55932210	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56094546	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56191920	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66802900	0.82[EUR][1000 genomes]
rs67282763	0.80[EUR][1000 genomes]
rs67682051	0.81[EUR][1000 genomes]
rs67719619	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7107303	1.00[CHB][hapmap]
rs7107455	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs7118279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71465608	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71465611	0.80[EUR][1000 genomes]
rs725459	0.82[CHB][hapmap]
rs7926846	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs7934759	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv898053	chr11:85579304-85634425	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12805520	C11orf73	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85629400-85630800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr11:85629600-85630800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr11:85629800-85630800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:85630000-85630600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:85630000-85630600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:85630000-85630600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:85630000-85630800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:85630000-85630800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:85630000-85631000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:85630000-85631000	Enhancers	Osteobl	bone
11	chr11:85630200-85630600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:85630200-85630600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:85630200-85630600	Flanking Active TSS	HepG2	liver
14	chr11:85630200-85633400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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