Variant report

Variant	rs327465
Chromosome Location	chr14:81230040-81230041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10135084	0.82[GIH][hapmap]
rs10141970	0.89[CHB][hapmap]
rs10142753	0.89[CHB][hapmap]
rs11625199	0.89[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap]
rs12050342	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs12437260	0.89[CHB][hapmap]
rs162171	0.85[GIH][hapmap]
rs162174	0.84[GIH][hapmap]
rs162178	0.86[JPT][hapmap]
rs170596	0.89[CHB][hapmap]
rs172909	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17615020	0.89[CHB][hapmap]
rs1863766	0.89[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap]
rs2010847	0.89[CHB][hapmap]
rs228122	0.89[CHB][hapmap]
rs2288347	0.89[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs2556607	0.84[GIH][hapmap]
rs2556611	0.89[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap]
rs28850656	0.84[GIH][hapmap]
rs2888032	0.89[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs327434	0.82[GIH][hapmap]
rs327435	0.86[JPT][hapmap]
rs327439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs327440	0.86[JPT][hapmap]
rs327442	0.86[JPT][hapmap]
rs327443	0.86[JPT][hapmap]
rs327446	0.86[JPT][hapmap]
rs327456	0.83[JPT][hapmap]
rs327457	0.84[JPT][hapmap]
rs327462	0.86[JPT][hapmap]
rs327463	0.91[GIH][hapmap]
rs327464	0.89[CHB][hapmap];0.98[GIH][hapmap];0.80[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs327467	0.86[JPT][hapmap]
rs327470	0.86[JPT][hapmap]
rs327472	0.86[JPT][hapmap]
rs327477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs328239	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs328258	0.86[JPT][hapmap]
rs4903949	0.89[CHB][hapmap]
rs6574608	0.89[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap]
rs6574609	0.82[GIH][hapmap]
rs6574610	0.89[CHB][hapmap]
rs7156572	0.82[GIH][hapmap]
rs7157845	0.89[CHB][hapmap]
rs7158936	0.84[GIH][hapmap]
rs722906	0.89[CHB][hapmap]
rs7493314	0.89[CHB][hapmap]
rs768359	0.84[GIH][hapmap]
rs8011273	0.89[GIH][hapmap];0.86[JPT][hapmap]
rs8016507	0.89[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap]

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	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1035295	chr14:81180999-81236636	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs327465	C14orf145	cis	cerebellum	SCAN
rs327465	C14orf145	cis	parietal	SCAN

Chromatin state (count:29 , 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	chr14:81199800-81248600	Weak transcription	Primary T cells from cord blood	blood
3	chr14:81205000-81261000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:81207200-81232600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:81207600-81230800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:81207600-81265400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:81208400-81240400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:81208800-81232400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:81209600-81248200	Weak transcription	HSMM	muscle
10	chr14:81210600-81230400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:81213400-81231200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:81215800-81236200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:81221000-81238600	Weak transcription	Ovary	ovary
14	chr14:81221200-81230800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:81221400-81238600	Weak transcription	Thymus	Thymus
16	chr14:81221600-81236200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:81222400-81260000	Weak transcription	Fetal Brain Female	brain
18	chr14:81223000-81230800	Weak transcription	NHEK	skin
19	chr14:81223200-81250800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr14:81223400-81234000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:81227000-81260800	Weak transcription	NH-A	brain
22	chr14:81227400-81258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:81227600-81236200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:81228200-81240800	Weak transcription	Fetal Thymus	thymus
25	chr14:81229400-81231200	Weak transcription	Dnd41	blood
26	chr14:81229400-81238800	Weak transcription	Left Ventricle	heart
27	chr14:81229600-81234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:81229800-81231000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:81229800-81236200	Weak transcription	NHDF-Ad	bronchial

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