Variant report

Variant	rs12318689
Chromosome Location	chr12:21571435-21571436
allele	A/G
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	RCOR1	chr12:21571411-21571490	K562	blood:	n/a	n/a
2	TBP	chr12:21571303-21571644	K562	blood:	n/a	n/a
3	CHD2	chr12:21571389-21571679	K562	blood:	n/a	n/a
4	CUX1	chr12:21571314-21571473	K562	blood:	n/a	n/a
5	EBF1	chr12:21571384-21571661	GM12878	blood:	n/a	chr12:21571541-21571552

No.	Distal block	Cell Line	Cell type
1	chr12:21476298..21478074-chr12:21570042..21572071,2	K562	blood:
2	chr12:21569338..21572113-chr12:21589171..21592854,4	K562	blood:
3	chr12:21569338..21572113-chr12:21589171..21592483,4	K562	blood:

Variant related genes	Relation type
SLCO1A2	TF binding region
ENSG00000121350	Chromatin interaction
ENSG00000084453	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10841767	1.00[CHB][hapmap]
rs10841789	1.00[CHB][hapmap]
rs10841795	1.00[CHB][hapmap]
rs11045871	1.00[CHB][hapmap]
rs11045872	1.00[CHB][hapmap]
rs11045884	1.00[CHB][hapmap]
rs11045887	1.00[CHB][hapmap]
rs11045891	1.00[CHB][hapmap]
rs11045918	1.00[CHB][hapmap]
rs11045942	1.00[CHB][hapmap]
rs11045946	1.00[CHB][hapmap]
rs11045952	1.00[CHB][hapmap]
rs11045953	1.00[CHB][hapmap]
rs11045956	1.00[CHB][hapmap]
rs11045957	1.00[CHB][hapmap]
rs11045958	1.00[CHB][hapmap]
rs11045960	1.00[CHB][hapmap]
rs11045961	1.00[CHB][hapmap]
rs11045972	1.00[CHB][hapmap]
rs11045978	1.00[CHB][hapmap]
rs12829704	1.00[CHB][hapmap]
rs2199684	1.00[CHB][hapmap]
rs2900480	1.00[CHB][hapmap]
rs5486	1.00[CEU][hapmap]
rs7962263	1.00[CHB][hapmap]
rs7967303	1.00[CHB][hapmap]
rs7967403	1.00[CHB][hapmap]
rs7978322	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519603	chr12:21526472-21584709	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv898894	chr12:21545532-21583242	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv526789	chr12:21555691-21590788	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv898895	chr12:21561645-21621891	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21564800-21572200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:21568800-21571800	Enhancers	HUVEC	blood vessel
3	chr12:21570000-21572000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:21570800-21572600	Active TSS	K562	blood
5	chr12:21571000-21571800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:21571200-21571600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:21571200-21572000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:21571400-21571600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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