Variant report

Variant	rs162171
Chromosome Location	chr14:81260377-81260378
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10133034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135084	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs10141970	0.87[JPT][hapmap]
rs10142753	0.87[JPT][hapmap]
rs1016699	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs1038523	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11625199	0.87[GIH][hapmap];0.87[JPT][hapmap]
rs11627934	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs1197467	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs1197473	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1197474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes]
rs12050151	0.87[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs12050342	0.87[JPT][hapmap]
rs12050416	0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs12433134	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs12434318	0.88[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs12437260	0.87[JPT][hapmap]
rs12896436	0.81[JPT][hapmap]
rs149626	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs150997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162172	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs162174	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes]
rs162178	0.88[CHB][hapmap];0.80[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs170595	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs170596	0.87[JPT][hapmap]
rs17111153	0.86[JPT][hapmap]
rs17111237	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs17111246	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs17111256	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs17615020	0.87[JPT][hapmap]
rs1797671	0.82[EUR][1000 genomes]
rs1863766	0.89[GIH][hapmap];0.87[JPT][hapmap]
rs2010847	0.87[JPT][hapmap]
rs2059719	0.81[JPT][hapmap]
rs2110696	0.81[JPT][hapmap]
rs2162547	0.81[JPT][hapmap]
rs228109	0.80[EUR][1000 genomes]
rs228119	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs228122	0.87[JPT][hapmap]
rs2284722	0.81[JPT][hapmap]
rs2288347	0.89[GIH][hapmap];0.87[JPT][hapmap]
rs2556607	0.96[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs2556611	0.89[GIH][hapmap];0.87[JPT][hapmap]
rs2619661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes]
rs28850656	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs2888032	0.89[GIH][hapmap];0.87[JPT][hapmap]
rs327423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs327425	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs327426	0.86[EUR][1000 genomes]
rs327428	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327429	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327431	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs327434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs327435	0.93[ASW][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.80[GIH][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs327440	0.93[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs327442	0.94[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs327443	0.88[CHB][hapmap];0.81[JPT][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs327446	0.85[ASW][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs327447	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs327451	0.92[CEU][hapmap]
rs327452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs327454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs327456	0.85[CHB][hapmap]
rs327457	0.92[CHB][hapmap];0.82[EUR][1000 genomes]
rs327459	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs327460	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs327462	0.94[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs327463	0.93[ASW][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs327464	0.89[GIH][hapmap]
rs327465	0.85[GIH][hapmap]
rs327467	0.87[CHB][hapmap];0.84[EUR][1000 genomes]
rs327469	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs327470	0.94[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs327472	0.94[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs327473	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs327476	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs328206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs328212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs328213	1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs328239	0.87[GIH][hapmap]
rs328240	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs328241	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs328258	0.94[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs4899780	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap]
rs4903949	0.87[JPT][hapmap]
rs5002906	0.81[JPT][hapmap]
rs6574608	0.87[GIH][hapmap];0.87[JPT][hapmap]
rs6574609	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap]
rs6574610	0.87[JPT][hapmap]
rs7140452	0.96[CEU][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap]
rs7156572	0.92[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs7157845	0.87[JPT][hapmap]
rs7158936	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs722906	0.87[JPT][hapmap]
rs72693011	0.82[EUR][1000 genomes]
rs72693013	0.82[EUR][1000 genomes]
rs7493314	0.84[JPT][hapmap]
rs759919	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs768359	0.93[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs8008366	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs8009508	0.82[EUR][1000 genomes]
rs8011273	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]
rs8016507	0.89[GIH][hapmap];0.87[JPT][hapmap]
rs9323694	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9671671	0.86[EUR][1000 genomes]

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
rs162171	C14orf145	cis	cerebellum	SCAN
rs162171	C14orf145	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81205000-81261000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:81207600-81265400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:81227000-81260800	Weak transcription	NH-A	brain
5	chr14:81232400-81260800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:81235400-81266600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:81237400-81260600	Weak transcription	Right Ventricle	heart
8	chr14:81237600-81264600	Weak transcription	Psoas Muscle	Psoas
9	chr14:81238000-81267000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:81240800-81260800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:81241000-81263200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:81242200-81261000	Weak transcription	Liver	Liver
13	chr14:81243800-81261200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr14:81246800-81271600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:81248600-81263200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:81249000-81260600	Weak transcription	HUVEC	blood vessel
17	chr14:81249000-81266600	Weak transcription	Primary T cells from cord blood	blood
18	chr14:81249600-81261200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:81249800-81261200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:81250200-81266600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:81250200-81268400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:81250400-81260800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:81250400-81266800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr14:81251400-81261200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:81251600-81260600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:81251600-81261200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:81251800-81261000	Weak transcription	Ovary	ovary
28	chr14:81251800-81263600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:81251800-81282600	Weak transcription	A549	lung
30	chr14:81252200-81268200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:81253400-81261400	Strong transcription	Dnd41	blood
32	chr14:81256400-81271000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr14:81257800-81260600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:81258800-81262800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:81259400-81261400	Weak transcription	Adipose Nuclei	Adipose
36	chr14:81259400-81264400	Weak transcription	Fetal Lung	lung
37	chr14:81259400-81265200	Weak transcription	Fetal Thymus	thymus
38	chr14:81259400-81265400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:81259400-81265400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:81259400-81265400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:81259400-81265400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:81259400-81265400	Weak transcription	Left Ventricle	heart
43	chr14:81259400-81266600	Weak transcription	HSMM	muscle
44	chr14:81259400-81274000	Weak transcription	Aorta	Aorta
45	chr14:81259400-81274000	Weak transcription	Pancreas	Pancrea
46	chr14:81259400-81274200	Weak transcription	Thymus	Thymus
47	chr14:81259400-81278400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:81259600-81261000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:81259600-81261600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:81259600-81262400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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