Variant report

Variant	rs11623274
Chromosome Location	chr14:22236316-22236317
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	RAD21	chr14:22236306-22236791	MCF-7	breast:	n/a	chr14:22236544-22236563 chr14:22236548-22236557 chr14:22236549-22236561
2	RAD21	chr14:22236263-22236752	H1-hESC	embryonic stem cell:	n/a	chr14:22236544-22236563 chr14:22236548-22236557 chr14:22236549-22236561
3	CTCF	chr14:22236021-22236935	A549	lung:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
4	CTCF	chr14:22236301-22237044	SK-N-SH	brain:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
5	CTCF	chr14:22236254-22236756	HCT-116	colon:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
6	CTCF	chr14:22236307-22236754	HepG2	liver:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
7	CTCF	chr14:22236305-22236829	MCF-7	breast:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
8	CTCF	chr14:22236260-22236410	HL-60	blood:	n/a	n/a
9	ZNF263	chr14:22236230-22236805	HEK293-T-REx	kidney:	n/a	n/a
10	SMC3	chr14:22236203-22236660	K562	blood:	n/a	chr14:22236545-22236559
11	RAD21	chr14:22236281-22236885	MCF-7	breast:	n/a	chr14:22236544-22236563 chr14:22236548-22236557 chr14:22236549-22236561

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:22236090..22236721-chr14:22293035..22293909,3	MCF-7	breast:

Variant related genes	Relation type
TRAV6	TF binding region
ENSG00000211784	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10131222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10144962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10146162	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10483257	0.95[CEU][hapmap]
rs11157237	0.90[CEU][hapmap]
rs11621002	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11621081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11622057	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11623408	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11846985	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12437386	0.90[CEU][hapmap]
rs12437417	0.91[CEU][hapmap]
rs12885356	0.95[CEU][hapmap]
rs12888724	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12890321	0.89[CEU][hapmap]
rs12895847	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12895871	0.90[CEU][hapmap]
rs12896233	0.90[CEU][hapmap];0.90[JPT][hapmap]
rs12897085	0.81[CEU][hapmap]
rs12897392	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12897401	0.91[CEU][hapmap]
rs1882699	0.90[CEU][hapmap]
rs28449295	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34501223	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35430868	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4329837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4981383	0.90[CEU][hapmap]
rs4981384	0.91[CEU][hapmap]
rs71412053	0.87[AMR][1000 genomes]
rs7143791	0.95[CEU][hapmap]
rs7145515	0.95[CEU][hapmap]
rs72689706	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8004645	0.91[CEU][hapmap]
rs8019263	0.91[CEU][hapmap]
rs9944125	0.95[CEU][hapmap]

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	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
2	nsv456147	chr14:22073473-22305071	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv563851	chr14:22073473-22305071	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv563852	chr14:22205447-22344160	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv528996	chr14:22220569-22242293	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv901480	chr14:22221211-22255090	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1037902	chr14:22229021-22354103	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv832741	chr14:22235781-22413637	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22236200-22236800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:22236200-22237000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:22236200-22237400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:22236200-22237400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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