Variant report

Variant	rs1255639
Chromosome Location	chr14:63977735-63977736
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:63977731-63977975	K562	blood:	n/a	n/a
2	MAX	chr14:63977172-63977757	NB4	blood:	n/a	n/a
3	RUNX3	chr14:63976998-63977800	GM12878	blood:	n/a	n/a
4	RFX5	chr14:63977670-63977785	GM12878	blood:	n/a	n/a
5	WRNIP1	chr14:63976930-63978258	GM12878	blood:	n/a	n/a
6	RUNX3	chr14:63977036-63977737	GM12878	blood:	n/a	n/a
7	BHLHE40	chr14:63977233-63977831	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr14:63977205-63977912	GM12878	blood:	n/a	n/a
9	SPI1	chr14:63977309-63977846	HL-60	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:63970368..63973107-chr14:63976756..63979784,4	MCF-7	breast:
2	chr14:63974026..63976244-chr14:63977485..63979452,2	MCF-7	breast:
3	chr14:63975181..63977761-chr14:64008340..64011639,4	MCF-7	breast:
4	chr14:63975681..63978384-chr14:64106592..64108679,2	K562	blood:
5	chr14:63976892..63978457-chr14:63980086..63982121,2	MCF-7	breast:
6	chr14:63975776..63978385-chr14:63991959..63994166,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR89-3	chr14:63976842-63978709	ncRnaDb_ncrna_FR092161_1

No data

Variant related genes	Relation type
PPP2R5E	TF binding region
ENSG00000140006	Chromatin interaction
ENSG00000154001	Chromatin interaction
ENSG00000261242	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10129891	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1152449	0.85[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];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255635	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1255638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255718	0.86[CEU][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1255721	0.82[CEU][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1255722	0.82[CEU][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1255723	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1255730	0.84[EUR][1000 genomes]
rs1255733	0.83[EUR][1000 genomes]
rs1255742	0.88[MEX][hapmap];0.81[TSI][hapmap]
rs1255743	0.83[CHB][hapmap]
rs1255771	0.86[TSI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1255777	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1255788	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1271563	0.82[CEU][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2754223	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]
rs3783738	0.90[CHB][hapmap]
rs6573522	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7158805	0.87[EUR][1000 genomes]
rs8009717	0.86[EUR][1000 genomes]
rs964954	0.86[CEU][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.94[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1255639	ANXA1	trans	lymphoblastoid	seeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63951000-64003200	Weak transcription	Ovary	ovary
2	chr14:63955200-63977800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr14:63960000-63978000	Weak transcription	NHLF	lung
4	chr14:63960000-63983400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:63960000-64005000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:63960200-63983200	Weak transcription	NH-A	brain
7	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
8	chr14:63960400-63980200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:63960400-63980600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:63960400-63991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:63960600-63979800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:63960600-63987000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:63962800-63990600	Weak transcription	Right Ventricle	heart
14	chr14:63963200-63980400	Weak transcription	Psoas Muscle	Psoas
15	chr14:63963600-63977800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:63963800-63977800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:63964000-63990400	Weak transcription	Fetal Kidney	kidney
18	chr14:63964200-63981000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:63965600-63979800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:63965600-63980600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:63966000-63980000	Weak transcription	Fetal Lung	lung
22	chr14:63966600-63983200	Weak transcription	Adipose Nuclei	Adipose
23	chr14:63966800-63983200	Weak transcription	Osteobl	bone
24	chr14:63967600-63986600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:63967600-63996400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr14:63968600-63980600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:63969200-63983200	Weak transcription	Left Ventricle	heart
28	chr14:63969200-63984800	Weak transcription	Lung	lung
29	chr14:63969200-63991200	Weak transcription	Right Atrium	heart
30	chr14:63970200-64008600	Weak transcription	Aorta	Aorta
31	chr14:63970400-63980400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:63970600-63980800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:63970800-63979800	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:63970800-63990600	Weak transcription	Brain Anterior Caudate	brain
35	chr14:63971200-64000800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:63972000-64000200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:63972200-64003400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr14:63972400-63983200	Weak transcription	Hela-S3	cervix
39	chr14:63972400-64002800	Weak transcription	HMEC	breast
40	chr14:63972600-63977800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:63972600-63987000	Weak transcription	NHEK	skin
42	chr14:63972600-64008800	Weak transcription	Esophagus	oesophagus
43	chr14:63972800-63983000	Weak transcription	A549	lung
44	chr14:63972800-63983200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:63974000-63987000	Weak transcription	Liver	Liver
46	chr14:63974000-63989200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:63974000-63990600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr14:63974200-63980200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr14:63974800-64007800	Weak transcription	Fetal Brain Male	brain
50	chr14:63975000-63983200	Weak transcription	Spleen	Spleen

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