Variant report

Variant	rs12223171
Chromosome Location	chr11:66323391-66323392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66320797..66323676-chr11:66324409..66326374,2	MCF-7	breast:
2	chr11:66321442..66324076-chr11:66326506..66329626,4	K562	blood:
3	chr11:66323180..66325641-chr11:66328411..66330736,2	MCF-7	breast:
4	chr11:66311873..66314750-chr11:66320969..66327300,6	K562	blood:

Variant related genes	Relation type
ENSG00000248746	Chromatin interaction
ENSG00000250105	Chromatin interaction
ENSG00000174165	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10896128	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11227504	0.82[ASN][1000 genomes]
rs11227516	0.85[ASN][1000 genomes]
rs11227532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs11227539	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.89[ASN][1000 genomes]
rs11227554	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11227560	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11227562	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11227574	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12222434	0.86[ASN][1000 genomes]
rs12223908	0.90[ASN][1000 genomes]
rs2229455	0.90[ASN][1000 genomes]
rs2229456	0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2275998	0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2276136	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2290462	0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3782080	1.00[ASN][1000 genomes]
rs3814735	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs3814736	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897788	chr11:66319262-66347850	Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66314400-66327000	Weak transcription	Right Atrium	heart
2	chr11:66314800-66326600	Weak transcription	Psoas Muscle	Psoas
3	chr11:66315400-66323600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:66316400-66325200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:66316800-66325800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:66317000-66324800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:66319000-66337800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:66321400-66330400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:66321400-66331600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:66321600-66324600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:66321800-66326400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:66321800-66326400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:66321800-66326400	Weak transcription	Gastric	stomach
14	chr11:66322200-66325800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:66322600-66331400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr11:66323000-66323800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:66323000-66324600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:66323000-66325400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:66323200-66323400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:66323200-66323400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:66323200-66323600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links