Variant report

Variant	rs12878945
Chromosome Location	chr14:81298674-81298675
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81105972..81108126-chr14:81297370..81299564,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10136404	0.95[JPT][hapmap]
rs1016507	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1025253	0.85[GIH][hapmap];0.95[JPT][hapmap]
rs1035144	0.85[JPT][hapmap]
rs11623416	0.95[JPT][hapmap]
rs12431821	0.83[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap]
rs12432357	0.89[ASN][1000 genomes]
rs12434564	0.87[ASN][1000 genomes]
rs12880014	0.82[CHB][hapmap]
rs12880075	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12888082	0.83[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12891585	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs12892825	0.85[GIH][hapmap];0.95[JPT][hapmap]
rs12895801	0.95[JPT][hapmap]
rs1458993	0.83[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1597320	0.82[JPT][hapmap]
rs17111270	0.90[JPT][hapmap]
rs17542615	0.83[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs17542712	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17613911	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs17614081	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs1797670	0.83[ASN][1000 genomes]
rs2044738	0.86[ASN][1000 genomes]
rs2114703	0.95[JPT][hapmap]
rs2215981	0.85[JPT][hapmap]
rs2217176	0.85[GIH][hapmap];0.95[JPT][hapmap]
rs228110	0.83[ASN][1000 genomes]
rs228111	0.83[ASN][1000 genomes]
rs228120	0.95[JPT][hapmap]
rs228125	0.94[JPT][hapmap]
rs2371416	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs2371457	0.95[JPT][hapmap]
rs2590480	0.83[CHD][hapmap]
rs2888046	0.94[JPT][hapmap]
rs35540104	0.82[ASN][1000 genomes]
rs3742721	0.85[GIH][hapmap];0.95[JPT][hapmap]
rs3742722	0.85[GIH][hapmap];0.95[JPT][hapmap]
rs4411444	0.85[JPT][hapmap]
rs4523859	0.83[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap]
rs4899782	0.95[JPT][hapmap]
rs4903948	0.85[GIH][hapmap];0.95[JPT][hapmap]
rs4903954	0.94[JPT][hapmap]
rs6574605	0.80[CHD][hapmap]
rs6574613	0.85[GIH][hapmap];0.95[JPT][hapmap]
rs7141130	0.80[ASN][1000 genomes]
rs7141434	0.83[CHB][hapmap];0.80[CHD][hapmap];0.85[JPT][hapmap]
rs7142753	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7143407	0.83[ASN][1000 genomes]
rs7148368	0.89[GIH][hapmap];0.95[JPT][hapmap]
rs7148618	0.83[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7150858	0.92[GIH][hapmap];0.95[JPT][hapmap]
rs7153979	0.95[JPT][hapmap]
rs7154132	0.90[GIH][hapmap];0.95[JPT][hapmap]
rs759916	0.80[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap]
rs8003784	0.89[ASN][1000 genomes]
rs8005809	0.82[JPT][hapmap]
rs8006507	0.89[ASN][1000 genomes]
rs8006864	0.80[ASN][1000 genomes]
rs8009120	0.84[JPT][hapmap]
rs8021137	0.95[JPT][hapmap]
rs8022411	0.95[JPT][hapmap]
rs8022788	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12878945	VIPAR	cis	parietal	SCAN
rs12878945	C14orf145	cis	cerebellum	SCAN
rs12878945	C14orf145	cis	parietal	SCAN
rs12878945	C14orf179	cis	cerebellum	SCAN

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	chr14:81285000-81304600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:81285000-81310200	Weak transcription	A549	lung
5	chr14:81285000-81311200	Weak transcription	Ovary	ovary
6	chr14:81285200-81315600	Weak transcription	HSMM	muscle
7	chr14:81286200-81305800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:81288000-81307800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:81288800-81305800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr14:81290600-81311200	Weak transcription	Fetal Stomach	stomach
11	chr14:81291200-81305600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:81291400-81305200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:81291400-81306600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:81291600-81304000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr14:81291600-81310000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:81291600-81310800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:81291600-81331000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:81291800-81301200	Weak transcription	Thymus	Thymus
19	chr14:81291800-81302400	Weak transcription	Fetal Thymus	thymus
20	chr14:81291800-81303400	Weak transcription	Left Ventricle	heart
21	chr14:81291800-81307000	Strong transcription	Dnd41	blood
22	chr14:81291800-81307200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:81291800-81307800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:81291800-81344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:81292200-81328200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:81292800-81307000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:81294400-81309000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:81295600-81308800	Weak transcription	Brain Substantia Nigra	brain

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