Variant report

Variant	rs35342879
Chromosome Location	chr14:22236374-22236375
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	CTCF	chr14:22236344-22236769	H1-hESC	embryonic stem cell:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
2	RAD21	chr14:22236306-22236791	MCF-7	breast:	n/a	chr14:22236544-22236563 chr14:22236548-22236557 chr14:22236549-22236561
3	RAD21	chr14:22236263-22236752	H1-hESC	embryonic stem cell:	n/a	chr14:22236544-22236563 chr14:22236548-22236557 chr14:22236549-22236561
4	CTCF	chr14:22236021-22236935	A549	lung:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
5	CTCF	chr14:22236301-22237044	SK-N-SH	brain:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
6	RAD21	chr14:22236324-22236760	H1-hESC	embryonic stem cell:	n/a	chr14:22236544-22236563 chr14:22236548-22236557 chr14:22236549-22236561
7	CTCF	chr14:22236340-22236490	A549	lung:	n/a	n/a
8	CTCF	chr14:22236254-22236756	HCT-116	colon:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
9	CTCF	chr14:22236307-22236754	HepG2	liver:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
10	CTCF	chr14:22236367-22236749	K562	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
11	CTCF	chr14:22236331-22236856	MCF-7	breast:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
12	RAD21	chr14:22236341-22236678	H1-hESC	embryonic stem cell:	n/a	chr14:22236544-22236563 chr14:22236548-22236557 chr14:22236549-22236561
13	CTCF	chr14:22236305-22236829	MCF-7	breast:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
14	CTCF	chr14:22236260-22236410	HL-60	blood:	n/a	n/a
15	ZNF263	chr14:22236230-22236805	HEK293-T-REx	kidney:	n/a	n/a
16	SMC3	chr14:22236203-22236660	K562	blood:	n/a	chr14:22236545-22236559
17	CTCF	chr14:22236357-22236750	H1-hESC	embryonic stem cell:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
18	RAD21	chr14:22236371-22236711	HepG2	liver:	n/a	chr14:22236544-22236563 chr14:22236548-22236557 chr14:22236549-22236561
19	BHLHE40	chr14:22236359-22236692	GM12878	blood:	n/a	n/a
20	RAD21	chr14:22236281-22236885	MCF-7	breast:	n/a	chr14:22236544-22236563 chr14:22236548-22236557 chr14:22236549-22236561
21	CTCF	chr14:22236365-22236751	GM12878	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566

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: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11157210	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157211	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434017	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12435882	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12587357	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12587521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474475	0.86[EUR][1000 genomes]
rs17182782	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075486	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34258387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35978792	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982489	0.85[EUR][1000 genomes]
rs4982497	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982499	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982500	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982501	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982502	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982503	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57353658	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61484129	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61678561	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766737	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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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