Variant report

Variant	rs2075487
Chromosome Location	chr14:22265277-22265278
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	CTCF	chr14:22265181-22265364	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
2	CTCF	chr14:22265140-22265290	HEK293	kidney:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
3	CTCF	chr14:22265220-22265370	HRE	kidney:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
4	CTCF	chr14:22265180-22265330	HAc	cerebellar:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
5	RCOR1	chr14:22265257-22265381	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr14:22265168-22265365	H1-hESC	embryonic stem cell:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
7	CTCF	chr14:22265219-22265302	GM19239	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
8	CTCF	chr14:22265172-22265358	LNCaP	prostate:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
9	CTCF	chr14:22265260-22265410	Caco-2	colon:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
10	CTCF	chr14:22265240-22265390	GM12872	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
11	CTCF	chr14:22265221-22265301	K562	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
12	CTCF	chr14:22265220-22265370	GM12871	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
13	CTCF	chr14:22265220-22265370	HPAF	blood vessel:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
14	CTCF	chr14:22265076-22265457	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
15	CTCF	chr14:22265220-22265370	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
16	CTCF	chr14:22265202-22265347	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
17	CTCF	chr14:22265200-22265350	GM12868	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
18	CTCF	chr14:22265098-22265454	H1-hESC	embryonic stem cell:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
19	CTCF	chr14:22265220-22265370	HBMEC	blood vessel:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
20	CTCF	chr14:22265200-22265350	GM12866	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
21	CTCF	chr14:22265180-22265330	HCPEpiC	choroid plexus:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
22	CTCF	chr14:22265140-22265290	HA-sp	spinal cord:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
23	CTCF	chr14:22265140-22265290	GM12870	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
24	ZNF143	chr14:22265115-22265513	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr14:22265200-22265350	HMF	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
26	CTCF	chr14:22265187-22265332	Hela-S3	cervix:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
27	RAD21	chr14:22265136-22265448	H1-hESC	embryonic stem cell:	n/a	chr14:22265342-22265356 chr14:22265261-22265280
28	CTCF	chr14:22265200-22265350	GM12864	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
29	CTCF	chr14:22265260-22265410	HRPEpiC	eye:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
30	RAD21	chr14:22265143-22265422	Hela-S3	cervix:	n/a	chr14:22265342-22265356 chr14:22265261-22265280
31	CTCF	chr14:22265200-22265350	HEK293	kidney:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
32	CTCF	chr14:22265184-22265375	NHEK	skin:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
33	CTCF	chr14:22265160-22265310	GM12864	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
34	RAD21	chr14:22265096-22265467	H1-hESC	embryonic stem cell:	n/a	chr14:22265342-22265356 chr14:22265261-22265280
35	CTCF	chr14:22265200-22265350	HPAF	blood vessel:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
36	CTCF	chr14:22265248-22265308	Gliobla	brain:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
37	CTCF	chr14:22265180-22265330	GM12872	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
38	CTCF	chr14:22265220-22265370	SAEC	small airway:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
39	CTCF	chr14:22265140-22265290	A549	lung:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
40	CTCF	chr14:22265220-22265370	HepG2	liver:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
41	CTCF	chr14:22265160-22265310	HCPEpiC	choroid plexus:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
42	CTCF	chr14:22265180-22265330	SAEC	small airway:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
43	CTCF	chr14:22265064-22265458	H1-hESC	embryonic stem cell:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
44	CTCF	chr14:22265201-22265336	A549	lung:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
45	CTCF	chr14:22265180-22265330	Hela-S3	cervix:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
46	CTCF	chr14:22265200-22265350	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
47	CTCF	chr14:22265160-22265310	HMEC	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
48	CTCF	chr14:22265164-22265372	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
49	CTCF	chr14:22265189-22265357	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
50	CTCF	chr14:22265217-22265319	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:22264815..22265316-chr14:22293406..22294027,2	MCF-7	breast:

Variant related genes	Relation type
TRAV8-1	TF binding region
ENSG00000211784	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1014477	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10483259	0.89[CEU][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs12323576	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12892366	0.83[EUR][1000 genomes]
rs12894134	0.89[CEU][hapmap];0.80[JPT][hapmap];0.86[YRI][hapmap]
rs12897433	0.87[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17182796	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17182809	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs1983517	1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap]
rs2204938	0.89[CEU][hapmap];0.80[JPT][hapmap];0.81[YRI][hapmap];0.83[EUR][1000 genomes]
rs33962716	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35012626	0.83[EUR][1000 genomes]
rs35372754	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4429208	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56845602	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71412056	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71412058	0.81[EUR][1000 genomes]
rs7157659	0.89[CEU][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs7493628	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]

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	nsv456148	chr14:22242293-22292805	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv563853	chr14:22242293-22292805	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	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
10	nsv974447	chr14:22260663-22267332	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22265000-22265400	Active TSS	Thymus	Thymus
2	chr14:22265200-22265600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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