Variant report

Variant	rs73344664
Chromosome Location	chr14:81286059-81286060
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	chr14:81286054-81286118	GM20000	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000258452	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1003150	1.00[ASN][1000 genomes]
rs11159480	1.00[ASN][1000 genomes]
rs12586298	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12586860	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12588700	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12588767	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12897126	1.00[ASN][1000 genomes]
rs17111113	0.83[AFR][1000 genomes]
rs17111140	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111154	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs179244	1.00[ASN][1000 genomes]
rs179250	1.00[ASN][1000 genomes]
rs179253	1.00[ASN][1000 genomes]
rs179256	1.00[ASN][1000 genomes]
rs179258	1.00[ASN][1000 genomes]
rs179259	1.00[ASN][1000 genomes]
rs179260	1.00[ASN][1000 genomes]
rs179261	1.00[ASN][1000 genomes]
rs2024428	1.00[ASN][1000 genomes]
rs28699303	1.00[ASN][1000 genomes]
rs35654991	0.95[EUR][1000 genomes]
rs58900495	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59549907	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61738571	1.00[ASN][1000 genomes]
rs7143071	1.00[ASN][1000 genomes]
rs7145701	1.00[ASN][1000 genomes]
rs7155069	1.00[ASN][1000 genomes]
rs726019	1.00[ASN][1000 genomes]
rs73338175	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73338184	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73338195	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73340185	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73340194	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73342103	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73342108	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73342113	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73344053	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73344084	1.00[AMR][1000 genomes]
rs73344651	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73344656	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73344662	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81281600-81304200	Weak transcription	Primary T cells from cord blood	blood
3	chr14:81282800-81290000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:81283000-81288800	Weak transcription	Aorta	Aorta
5	chr14:81283200-81286800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:81284200-81287000	ZNF genes & repeats	Dnd41	blood
7	chr14:81284400-81291800	Strong transcription	Fetal Thymus	thymus
8	chr14:81284600-81291200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:81284800-81288200	Weak transcription	Pancreas	Pancrea
10	chr14:81284800-81290000	Weak transcription	Fetal Stomach	stomach
11	chr14:81284800-81290200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:81285000-81286600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:81285000-81288000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:81285000-81288000	Weak transcription	Thymus	Thymus
15	chr14:81285000-81290000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:81285000-81290800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:81285000-81291200	Weak transcription	Fetal Brain Female	brain
18	chr14:81285000-81304600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:81285000-81310200	Weak transcription	A549	lung
20	chr14:81285000-81311200	Weak transcription	Ovary	ovary
21	chr14:81285200-81290000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:81285200-81315600	Weak transcription	HSMM	muscle
23	chr14:81285400-81286600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:81285400-81290200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:81285600-81290000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:81285600-81290000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:81286000-81286200	ZNF genes & repeats	Left Ventricle	heart
28	chr14:81286000-81287000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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