Variant report

Variant	rs12885171
Chromosome Location	chr14:22293361-22293362
allele	A/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	CTCF	chr14:22293320-22293470	HVMF	connective:	n/a	n/a
2	CTCF	chr14:22293320-22293470	HFF-Myc	foreskin:	n/a	n/a
3	CTCF	chr14:22293355-22293609	HepG2	liver:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
4	CTCF	chr14:22293295-22293612	K562	blood:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
5	ZNF143	chr14:22293353-22293638	GM12878	blood:	n/a	n/a
6	CTCF	chr14:22293314-22293682	K562	blood:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
7	RAD21	chr14:22293345-22293663	H1-hESC	embryonic stem cell:	n/a	chr14:22293482-22293501 chr14:22293487-22293499
8	CTCF	chr14:22293319-22293589	SK-N-SH_RA	brain:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
9	CTCF	chr14:22293360-22293510	NHLF	lung:	n/a	chr14:22293481-22293499 chr14:22293483-22293504
10	E2F4	chr14:22293350-22293636	MCF10A-Er-Src	breast:	n/a	chr14:22293563-22293572
11	RAD21	chr14:22293334-22293629	H1-hESC	embryonic stem cell:	n/a	chr14:22293482-22293501 chr14:22293487-22293499
12	CTCF	chr14:22293360-22293510	BE2_C	brain:	n/a	chr14:22293481-22293499 chr14:22293483-22293504
13	CTCF	chr14:22293319-22293658	K562	blood:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
14	CTCF	chr14:22293277-22293647	H1-hESC	embryonic stem cell:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
15	CTCF	chr14:22293138-22293832	A549	lung:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
16	CTCF	chr14:22293241-22293722	HCT-116	colon:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
17	CTCF	chr14:22293360-22293510	AG04450	lung:	n/a	chr14:22293481-22293499 chr14:22293483-22293504
18	CTCF	chr14:22293303-22293663	GM12878	blood:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
19	CTCF	chr14:22293231-22293778	MCF-7	breast:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
20	CTCF	chr14:22293360-22293510	HMEC	breast:	n/a	chr14:22293481-22293499 chr14:22293483-22293504
21	RAD21	chr14:22293342-22293633	MCF-7	breast:	n/a	chr14:22293482-22293501 chr14:22293487-22293499
22	CTCF	chr14:22293360-22293510	HCFaa	heart:	n/a	chr14:22293481-22293499 chr14:22293483-22293504
23	CTCF	chr14:22293220-22293830	MCF-7	breast:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
24	CTCF	chr14:22293256-22293657	HepG2	liver:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
25	FOXA2	chr14:22293343-22293645	HepG2	liver:	n/a	n/a
26	CTCF	chr14:22293360-22293510	BJ	skin:	n/a	chr14:22293481-22293499 chr14:22293483-22293504
27	CTCF	chr14:22293360-22293510	SK-N-SH_RA	brain:	n/a	chr14:22293481-22293499 chr14:22293483-22293504
28	CTCF	chr14:22293360-22293510	GM12875	blood:	n/a	chr14:22293481-22293499 chr14:22293483-22293504
29	CTCF	chr14:22293320-22293623	K562	blood:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
30	CTCF	chr14:22293340-22293490	NB4	blood:	n/a	n/a
31	CTCF	chr14:22293357-22293633	HUVEC	blood vessel:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
32	ZNF143	chr14:22293334-22293664	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr14:22293334-22293676	H1-hESC	embryonic stem cell:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
34	RAD21	chr14:22293277-22293748	H1-hESC	embryonic stem cell:	n/a	chr14:22293482-22293501 chr14:22293487-22293499
35	CTCF	chr14:22293340-22293490	HCT-116	colon:	n/a	n/a
36	CTCF	chr14:22293360-22293510	WERI-Rb-1	eye:	n/a	chr14:22293481-22293499 chr14:22293483-22293504
37	CTCF	chr14:22293360-22293510	GM06990	blood:	n/a	chr14:22293481-22293499 chr14:22293483-22293504
38	CTCF	chr14:22293301-22293737	SK-N-SH	brain:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
39	CTCF	chr14:22293279-22293619	A549	lung:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504

Variant related genes	Relation type
TRAV11	TF binding region
TRAV10	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10483257	0.81[CEU][hapmap]
rs10483260	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11157237	0.86[CEU][hapmap]
rs11621002	0.81[CEU][hapmap]
rs11846985	0.81[CEU][hapmap]
rs12437386	0.86[CEU][hapmap]
rs12437417	0.86[CEU][hapmap]
rs12882959	0.90[CEU][hapmap]
rs12885356	0.81[CEU][hapmap]
rs12890321	0.94[CEU][hapmap]
rs12891026	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12892111	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12895871	0.86[CEU][hapmap]
rs12896233	0.86[CEU][hapmap]
rs12896503	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12897085	0.95[CEU][hapmap];0.89[CHB][hapmap]
rs12897401	0.86[CEU][hapmap]
rs12897764	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1534815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17197466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs17197473	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1882699	0.86[CEU][hapmap]
rs1978024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2010412	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2017238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2320058	0.84[EUR][1000 genomes]
rs34654962	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34786702	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35173881	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35533731	0.90[EUR][1000 genomes]
rs35920282	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4981383	0.86[CEU][hapmap]
rs4981384	0.86[CEU][hapmap]
rs7143791	0.81[CEU][hapmap]
rs7145515	0.81[CEU][hapmap]
rs72671985	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs727034	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8004645	0.86[CEU][hapmap]
rs8011400	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8012498	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8019263	0.86[CEU][hapmap]
rs879657	1.00[CEU][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs879659	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9944125	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
6	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
7	esv3387723	chr14:22255284-22397765	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv901481	chr14:22262039-22333939	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv430885	chr14:22267491-22975700	Enhancers Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	124 gene(s)	inside rSNPs	diseases
10	nsv524527	chr14:22288841-22387318	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv430886	chr14:22290777-22975700	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	123 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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