Variant report

Variant	rs2754223
Chromosome Location	chr14:63974966-63974967
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	RCOR1	chr14:63974898-63974978	HepG2	liver:	n/a	n/a
2	MXI1	chr14:63974810-63975156	HepG2	liver:	n/a	n/a
3	MXI1	chr14:63974860-63975109	K562	blood:	n/a	n/a
4	SIN3A	chr14:63974822-63975200	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOXA2	chr14:63974815-63975074	HepG2	liver:	n/a	n/a
6	MAX	chr14:63974814-63975098	H1-hESC	embryonic stem cell:	n/a	chr14:63974996-63975005 chr14:63975005-63975015
7	MAX	chr14:63974905-63975105	HepG2	liver:	n/a	chr14:63974996-63975005 chr14:63975005-63975015
8	MAZ	chr14:63974957-63975153	HepG2	liver:	n/a	chr14:63974996-63975005 chr14:63975005-63975015
9	MAX	chr14:63974769-63975220	HepG2	liver:	n/a	chr14:63974996-63975005 chr14:63975005-63975015
10	PBX3	chr14:63974919-63975122	GM12878	blood:	n/a	chr14:63975034-63975043 chr14:63975019-63975028
11	MXI1	chr14:63974868-63975151	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3AK20	chr14:63974856-63975091	HepG2	liver:	n/a	n/a
13	MAX	chr14:63974830-63975162	H1-hESC	embryonic stem cell:	n/a	chr14:63974996-63975005 chr14:63975005-63975015
14	MAX	chr14:63974737-63975184	HepG2	liver:	n/a	chr14:63974996-63975005 chr14:63975005-63975015
15	FOXA1	chr14:63974867-63975041	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
PPP2R5E	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10129891	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1152449	1.00[CEU][hapmap];0.82[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1255631	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1255635	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1255638	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255639	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255718	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1255721	0.92[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1255722	0.83[ASW][hapmap];0.95[CEU][hapmap];0.93[GIH][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1255723	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1255730	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1255733	0.83[EUR][1000 genomes]
rs1255741	0.91[ASW][hapmap]
rs1255742	1.00[ASW][hapmap];0.81[CHD][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.91[YRI][hapmap]
rs1255743	0.83[CHB][hapmap]
rs1255771	0.81[CEU][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1255777	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1255788	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1271563	0.92[ASW][hapmap];0.95[CEU][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3783738	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs60971465	0.81[ASN][1000 genomes]
rs6573522	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7158805	0.86[EUR][1000 genomes]
rs8009717	0.85[EUR][1000 genomes]
rs964954	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63939000-63976800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:63946200-63976800	Weak transcription	Small Intestine	intestine
3	chr14:63950800-63975200	Weak transcription	Thymus	Thymus
4	chr14:63951000-64003200	Weak transcription	Ovary	ovary
5	chr14:63953600-63976800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:63955000-63975000	Weak transcription	Primary B cells from cord blood	blood
7	chr14:63955200-63975000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:63955200-63977000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr14:63955200-63977800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr14:63959000-63976800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:63960000-63978000	Weak transcription	NHLF	lung
12	chr14:63960000-63983400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:63960000-64005000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:63960200-63977000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:63960200-63983200	Weak transcription	NH-A	brain
16	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
17	chr14:63960400-63976600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:63960400-63980200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:63960400-63980600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:63960400-63991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:63960600-63979800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:63960600-63987000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:63961000-63976800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:63962200-63977000	Weak transcription	Dnd41	blood
25	chr14:63962800-63990600	Weak transcription	Right Ventricle	heart
26	chr14:63963200-63977000	Weak transcription	Pancreas	Pancrea
27	chr14:63963200-63980400	Weak transcription	Psoas Muscle	Psoas
28	chr14:63963600-63977800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:63963800-63977200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr14:63963800-63977800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:63964000-63990400	Weak transcription	Fetal Kidney	kidney
32	chr14:63964200-63981000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:63964800-63977000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:63965600-63979800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:63965600-63980600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:63966000-63980000	Weak transcription	Fetal Lung	lung
37	chr14:63966600-63983200	Weak transcription	Adipose Nuclei	Adipose
38	chr14:63966800-63983200	Weak transcription	Osteobl	bone
39	chr14:63967000-63977200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:63967400-63976600	Weak transcription	Fetal Intestine Small	intestine
41	chr14:63967400-63976800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:63967600-63986600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr14:63967600-63996400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr14:63967800-63977000	Weak transcription	Fetal Intestine Large	intestine
45	chr14:63968000-63977000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr14:63968600-63980600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr14:63969200-63983200	Weak transcription	Left Ventricle	heart
48	chr14:63969200-63984800	Weak transcription	Lung	lung
49	chr14:63969200-63991200	Weak transcription	Right Atrium	heart
50	chr14:63970200-63975200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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