Variant report

Variant	rs8011273
Chromosome Location	chr14:81243716-81243717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10133034	0.86[CEU][hapmap];0.93[CHB][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10135084	0.94[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap]
rs10143005	0.88[CEU][hapmap];0.81[YRI][hapmap]
rs1016699	0.87[CHB][hapmap]
rs1031299	0.88[CEU][hapmap]
rs1038523	0.94[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11625199	0.84[GIH][hapmap]
rs11627934	0.87[CHB][hapmap]
rs11846048	0.88[CEU][hapmap]
rs1197467	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs1197474	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs12050151	0.81[CHB][hapmap];0.80[CHD][hapmap]
rs12050416	0.87[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap]
rs12433134	0.87[CHB][hapmap]
rs12434318	0.87[CHB][hapmap]
rs12878836	0.91[CEU][hapmap];0.80[TSI][hapmap]
rs1449526	0.80[YRI][hapmap]
rs149626	0.90[AMR][1000 genomes]
rs150997	0.90[AMR][1000 genomes]
rs1564940	0.88[CEU][hapmap];0.81[YRI][hapmap]
rs162171	0.93[ASW][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs162172	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162174	0.93[ASW][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap]
rs162178	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs170595	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs17111237	0.81[CHB][hapmap]
rs17111246	0.81[CHB][hapmap]
rs17111256	0.81[CHB][hapmap]
rs1863766	0.84[GIH][hapmap]
rs1976104	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs228119	0.87[CHB][hapmap]
rs2288347	0.84[GIH][hapmap]
rs2556607	0.87[CHB][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs2556611	0.84[GIH][hapmap]
rs2619661	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs2619674	0.88[CEU][hapmap]
rs2619676	0.87[CEU][hapmap];0.81[YRI][hapmap]
rs28850656	0.87[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap]
rs2888032	0.84[GIH][hapmap]
rs327423	0.94[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs327424	0.94[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs327428	0.94[CHB][hapmap];0.80[JPT][hapmap];0.90[AMR][1000 genomes]
rs327429	0.94[CHB][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes]
rs327434	0.94[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs327435	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs327439	0.86[JPT][hapmap]
rs327440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs327443	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs327446	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs327447	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs327452	0.94[CHB][hapmap];0.80[JPT][hapmap]
rs327454	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs327456	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs327457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs327459	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327460	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs327462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327463	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327464	0.83[CHB][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap]
rs327465	0.89[GIH][hapmap];0.86[JPT][hapmap]
rs327467	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327469	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327470	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327473	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327476	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327477	0.86[JPT][hapmap]
rs328206	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs328212	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs328213	0.87[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap]
rs328239	0.91[GIH][hapmap];0.86[JPT][hapmap]
rs328240	0.95[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs328241	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs328258	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4899780	0.87[CHB][hapmap]
rs6574608	0.84[GIH][hapmap]
rs6574609	0.87[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap]
rs7156572	0.86[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap]
rs7158936	0.94[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.86[TSI][hapmap]
rs759919	0.87[CHB][hapmap]
rs768359	0.86[ASW][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap]
rs8008366	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs8016507	0.84[GIH][hapmap]
rs8019534	0.92[CEU][hapmap]
rs9323694	0.93[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8011273	C14orf145	cis	cerebellum	SCAN
rs8011273	C14orf145	cis	parietal	SCAN

Chromatin state (count:39 , 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	chr14:81207600-81265400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:81209600-81248200	Weak transcription	HSMM	muscle
6	chr14:81222400-81260000	Weak transcription	Fetal Brain Female	brain
7	chr14:81223200-81250800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr14:81227000-81260800	Weak transcription	NH-A	brain
9	chr14:81227400-81258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:81231200-81251400	Weak transcription	A549	lung
11	chr14:81232000-81251200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:81232400-81260800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr14:81233600-81246200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:81235200-81253600	Weak transcription	HMEC	breast
15	chr14:81235400-81266600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:81236600-81251200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:81236800-81244000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:81237200-81248400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:81237400-81260600	Weak transcription	Right Ventricle	heart
20	chr14:81237600-81255800	Weak transcription	NHLF	lung
21	chr14:81237600-81264600	Weak transcription	Psoas Muscle	Psoas
22	chr14:81238000-81267000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:81238800-81251400	Weak transcription	Ovary	ovary
24	chr14:81239200-81250800	Weak transcription	Aorta	Aorta
25	chr14:81239200-81251000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:81239200-81258800	Weak transcription	Adipose Nuclei	Adipose
27	chr14:81239400-81250800	Weak transcription	Left Ventricle	heart
28	chr14:81239400-81257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:81239400-81260200	Weak transcription	NHEK	skin
30	chr14:81240800-81260800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:81241000-81263200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:81242200-81261000	Weak transcription	Liver	Liver
33	chr14:81242800-81246200	Strong transcription	Dnd41	blood
34	chr14:81243200-81244400	Strong transcription	Fetal Thymus	thymus
35	chr14:81243400-81244000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:81243600-81243800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:81243600-81243800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
38	chr14:81243600-81243800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
39	chr14:81243600-81243800	ZNF genes & repeats	Thymus	Thymus

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