Variant report

Variant	rs4982481
Chromosome Location	chr14:22109667-22109668
allele	A/C
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	chr14:22109287-22109723	MCF-7	breast:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
2	RAD21	chr14:22109259-22109712	H1-hESC	embryonic stem cell:	n/a	chr14:22109538-22109557
3	CTCF	chr14:22109409-22109689	LNCaP	prostate:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
4	RAD21	chr14:22109442-22109814	A549	lung:	n/a	chr14:22109538-22109557
5	SMC3	chr14:22109390-22109689	Hela-S3	cervix:	n/a	chr14:22109539-22109553
6	RAD21	chr14:22109298-22109772	MCF-7	breast:	n/a	chr14:22109538-22109557
7	CTCF	chr14:22109364-22109712	K562	blood:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
8	IRF1	chr14:22109410-22109815	K562	blood:	n/a	n/a
9	CTCF	chr14:22109520-22109670	MCF-7	breast:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
10	CTCF	chr14:22109520-22109750	SAEC	small airway:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
11	CTCF	chr14:22109540-22109690	HVMF	connective:	n/a	n/a
12	CTCF	chr14:22109407-22109668	LNCaP	prostate:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
13	CTCF	chr14:22109361-22109722	GM12878	blood:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
14	CTCF	chr14:22109421-22109716	IMR90	lung:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
15	RAD21	chr14:22109307-22109802	HCT-116	colon:	n/a	chr14:22109538-22109557
16	CTCF	chr14:22109301-22109742	MCF-7	breast:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
17	RAD21	chr14:22109389-22109812	MCF-7	breast:	n/a	chr14:22109538-22109557
18	RAD21	chr14:22109366-22109696	HepG2	liver:	n/a	chr14:22109538-22109557
19	CTCF	chr14:22109330-22109731	HepG2	liver:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
20	RAD21	chr14:22109332-22109711	H1-hESC	embryonic stem cell:	n/a	chr14:22109538-22109557
21	ZNF384	chr14:22109349-22109710	K562	blood:	n/a	n/a
22	CTCF	chr14:22109660-22109810	HCM	heart:	n/a	n/a
23	CTCF	chr14:22109520-22109670	RPTEC	kidney:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
24	CTCF	chr14:22109520-22109670	HPAF	blood vessel:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
25	CTCF	chr14:22109148-22109866	A549	lung:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
26	CTCF	chr14:22109520-22109670	BE2_C	brain:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
27	CTCF	chr14:22109325-22109699	H1-hESC	embryonic stem cell:	n/a	chr14:22109539-22109560 chr14:22109537-22109555
28	RAD21	chr14:22109343-22109801	ECC-1	luminal epithelium:	n/a	chr14:22109538-22109557
29	RAD21	chr14:22109380-22109722	Hela-S3	cervix:	n/a	chr14:22109538-22109557
30	CTCF	chr14:22109540-22109690	NB4	blood:	n/a	n/a
31	RAD21	chr14:22109345-22109748	A549	lung:	n/a	chr14:22109538-22109557

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:22109038..22109779-chr14:22179252..22179808,3	MCF-7	breast:
2	chr14:22025433..22026344-chr14:22109433..22110015,2	MCF-7	breast:

Variant related genes	Relation type
TRAV1-2	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12147325	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1467886	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1467887	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17197338	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs2049787	1.00[ASW][hapmap];0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.84[MKK][hapmap];0.81[TSI][hapmap]
rs4982478	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4982479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55750218	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55998495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56256435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61046222	0.85[AMR][1000 genomes]
rs61974099	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61974101	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61974106	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61974770	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7145641	0.87[ASW][hapmap];0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap]
rs721999	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs722000	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs72688009	0.85[AMR][1000 genomes]
rs8020460	0.84[CHB][hapmap];1.00[JPT][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	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv901479	chr14:22102800-22146832	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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