Variant report

Variant	rs12880075
Chromosome Location	chr14:81291352-81291353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1016507	0.81[ASN][1000 genomes]
rs12431821	0.80[ASN][1000 genomes]
rs12432357	0.87[ASN][1000 genomes]
rs12434564	0.89[ASN][1000 genomes]
rs12878945	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12886388	0.80[ASN][1000 genomes]
rs12888082	0.87[ASN][1000 genomes]
rs1458993	0.84[ASN][1000 genomes]
rs17542615	0.87[ASN][1000 genomes]
rs17542712	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1797670	0.81[ASN][1000 genomes]
rs2044738	0.87[ASN][1000 genomes]
rs228110	0.81[ASN][1000 genomes]
rs228111	0.81[ASN][1000 genomes]
rs2371416	0.80[ASN][1000 genomes]
rs35540104	0.81[ASN][1000 genomes]
rs61979448	0.80[ASN][1000 genomes]
rs61979449	0.80[ASN][1000 genomes]
rs61979451	0.80[ASN][1000 genomes]
rs7141130	0.81[ASN][1000 genomes]
rs7142753	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7143407	0.81[ASN][1000 genomes]
rs7148618	0.87[ASN][1000 genomes]
rs8003784	0.87[ASN][1000 genomes]
rs8006507	0.87[ASN][1000 genomes]
rs8006864	0.81[ASN][1000 genomes]
rs8022788	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];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	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
3	nsv976358	chr14:81287297-81292051	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 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	chr14:81284400-81291800	Strong transcription	Fetal Thymus	thymus
4	chr14:81285000-81304600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:81285000-81310200	Weak transcription	A549	lung
6	chr14:81285000-81311200	Weak transcription	Ovary	ovary
7	chr14:81285200-81315600	Weak transcription	HSMM	muscle
8	chr14:81286200-81305800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:81286400-81292200	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:81287000-81291400	Strong transcription	Dnd41	blood
11	chr14:81288000-81291800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:81288000-81307800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:81288200-81294400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:81288800-81305800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:81289600-81292000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:81290000-81291400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr14:81290000-81291600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:81290000-81291600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr14:81290000-81291800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:81290000-81291800	ZNF genes & repeats	Thymus	Thymus
21	chr14:81290200-81291800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
22	chr14:81290200-81292200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:81290400-81291600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
24	chr14:81290400-81291600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:81290400-81291600	ZNF genes & repeats	Left Ventricle	heart
26	chr14:81290600-81311200	Weak transcription	Fetal Stomach	stomach
27	chr14:81290800-81291400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:81290800-81291600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
29	chr14:81290800-81291800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:81291000-81291400	ZNF genes & repeats	Fetal Heart	heart
31	chr14:81291200-81291600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr14:81291200-81291800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
33	chr14:81291200-81305600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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