Variant report

Variant	rs71419918
Chromosome Location	chr14:33081584-33081585
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	NFIC	chr14:33080674-33081954	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr14:33080686-33082057	SK-N-SH	brain:	n/a	chr14:33081085-33081095
3	EP300	chr14:33080689-33081997	SK-N-SH	brain:	n/a	chr14:33081083-33081097
4	FOS	chr14:33080521-33081600	MCF10A-Er-Src	breast:	n/a	chr14:33081086-33081095 chr14:33081068-33081079
5	TCF12	chr14:33080711-33082008	SK-N-SH	brain:	n/a	n/a
6	EP300	chr14:33080824-33081593	SK-N-SH_RA	brain:	n/a	chr14:33081083-33081097
7	GATA3	chr14:33080822-33081896	SK-N-SH	brain:	n/a	chr14:33081085-33081095
8	TCF12	chr14:33080604-33082249	SK-N-SH	brain:	n/a	n/a
9	STAT3	chr14:33080864-33082061	MCF10A-Er-Src	breast:	n/a	chr14:33081111-33081122
10	JUND	chr14:33080802-33081772	SK-N-SH	brain:	n/a	chr14:33081086-33081095
11	PBX3	chr14:33080733-33081871	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:33081326..33083127-chr14:33096469..33099467,2	MCF-7	breast:

Variant related genes	Relation type
AKAP6	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10135562	0.89[ASN][1000 genomes]
rs10141122	0.89[ASN][1000 genomes]
rs10144339	0.96[ASN][1000 genomes]
rs10144948	0.80[AMR][1000 genomes]
rs10147066	0.93[ASN][1000 genomes]
rs11626416	0.85[AMR][1000 genomes]
rs11846446	0.87[ASN][1000 genomes]
rs12323757	0.93[ASN][1000 genomes]
rs12323763	0.93[ASN][1000 genomes]
rs12323766	0.89[ASN][1000 genomes]
rs12880113	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12887176	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17415416	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17506512	0.91[AMR][1000 genomes]
rs17515243	0.89[ASN][1000 genomes]
rs1884619	0.81[ASN][1000 genomes]
rs28401565	0.81[AMR][1000 genomes]
rs34340539	0.96[ASN][1000 genomes]
rs4981990	0.91[AMR][1000 genomes]
rs4981991	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71419919	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33072200-33103600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:33072400-33091800	Weak transcription	Left Ventricle	heart
3	chr14:33075600-33081600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr14:33076000-33083200	Enhancers	NHDF-Ad	bronchial
5	chr14:33077600-33082400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:33077800-33081600	Enhancers	Osteobl	bone
7	chr14:33078200-33081600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:33078800-33097000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:33078800-33098200	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:33078800-33102600	Weak transcription	Aorta	Aorta
11	chr14:33080000-33081600	Enhancers	HSMMtube	muscle
12	chr14:33080000-33104200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:33080200-33081600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:33080200-33081600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:33080200-33081800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:33080200-33081800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:33080200-33081800	Enhancers	HMEC	breast
18	chr14:33080400-33081600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:33080400-33081600	Enhancers	HSMM	muscle
20	chr14:33080400-33081800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:33080600-33081800	Enhancers	NH-A	brain
22	chr14:33080600-33081800	Enhancers	NHEK	skin
23	chr14:33080600-33083600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:33080800-33081600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:33080800-33081600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:33080800-33081600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr14:33080800-33081600	Enhancers	Fetal Stomach	stomach
28	chr14:33080800-33081600	Enhancers	HUVEC	blood vessel
29	chr14:33081000-33082200	Enhancers	NHLF	lung
30	chr14:33081200-33083200	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:33081200-33089600	Weak transcription	Fetal Heart	heart
32	chr14:33081400-33082600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:33081400-33092800	Weak transcription	Brain Substantia Nigra	brain

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