Variant report

Variant	rs4523859
Chromosome Location	chr14:81259078-81259079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10136404	0.84[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs1016507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs1025253	0.96[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs1035144	0.81[JPT][hapmap]
rs11623023	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11623416	0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs12431821	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12432357	0.80[EUR][1000 genomes]
rs12434564	0.81[EUR][1000 genomes]
rs12878945	0.83[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap]
rs12880014	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12886388	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12888082	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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs12891585	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12892825	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs12895801	0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs12896065	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1458993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1597320	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs17111270	0.81[CEU][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap]
rs17542615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[EUR][1000 genomes]
rs17542712	0.83[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap]
rs17613911	1.00[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17614081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1797670	0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs1992973	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2044738	0.81[EUR][1000 genomes]
rs2114703	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs2215981	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs2217176	0.96[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs2246617	0.87[CHB][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs228110	0.81[EUR][1000 genomes]
rs228111	0.80[EUR][1000 genomes]
rs228120	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs228125	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap]
rs2371413	0.87[CHB][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2371416	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2371457	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2371462	0.81[CEU][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs2590480	1.00[ASW][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs2596118	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2888046	0.90[JPT][hapmap]
rs35540104	0.81[EUR][1000 genomes]
rs3742721	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs3742722	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs4411444	0.81[JPT][hapmap]
rs4899782	0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs4903948	0.81[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs4903954	0.88[JPT][hapmap]
rs61979448	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61979449	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61979451	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61979452	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6574605	1.00[ASW][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs6574613	0.88[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap]
rs7141130	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7141434	1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71416852	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7143407	0.81[EUR][1000 genomes]
rs7145233	0.81[EUR][1000 genomes]
rs7148368	0.96[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.82[AMR][1000 genomes]
rs7148618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs7150858	0.89[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap]
rs7153979	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs7154132	0.81[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs759916	0.81[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs8003784	0.81[EUR][1000 genomes]
rs8005809	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs8006507	0.81[EUR][1000 genomes]
rs8006864	1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8009120	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs8016601	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs8017943	0.81[EUR][1000 genomes]
rs8021137	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8022411	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4523859	C14orf179	cis	cerebellum	SCAN
rs4523859	C14orf145	cis	parietal	SCAN
rs4523859	C14orf145	cis	cerebellum	SCAN
rs4523859	VIPAR	cis	parietal	SCAN

Chromatin state (count:59 , 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	chr14:81222400-81260000	Weak transcription	Fetal Brain Female	brain
5	chr14:81227000-81260800	Weak transcription	NH-A	brain
6	chr14:81232400-81260800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:81235400-81266600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:81237400-81260600	Weak transcription	Right Ventricle	heart
9	chr14:81237600-81264600	Weak transcription	Psoas Muscle	Psoas
10	chr14:81238000-81267000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:81239400-81260200	Weak transcription	NHEK	skin
12	chr14:81240800-81260800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:81241000-81263200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:81242200-81261000	Weak transcription	Liver	Liver
15	chr14:81243800-81261200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:81246800-81271600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:81248600-81263200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:81249000-81260600	Weak transcription	HUVEC	blood vessel
19	chr14:81249000-81266600	Weak transcription	Primary T cells from cord blood	blood
20	chr14:81249600-81261200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:81249800-81261200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:81250200-81259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:81250200-81266600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr14:81250200-81268400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:81250400-81260800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:81250400-81266800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:81251400-81261200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:81251600-81259200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:81251600-81259200	Weak transcription	Aorta	Aorta
30	chr14:81251600-81260600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:81251600-81261200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:81251800-81261000	Weak transcription	Ovary	ovary
33	chr14:81251800-81263600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:81251800-81282600	Weak transcription	A549	lung
35	chr14:81252200-81268200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:81253400-81261400	Strong transcription	Dnd41	blood
37	chr14:81256400-81271000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr14:81257600-81259200	Weak transcription	Spleen	Spleen
39	chr14:81257600-81259600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr14:81257800-81259400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:81257800-81259400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:81257800-81259400	Strong transcription	Fetal Thymus	thymus
43	chr14:81257800-81259400	Strong transcription	Thymus	Thymus
44	chr14:81257800-81260600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:81258000-81259600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:81258200-81259600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:81258400-81259400	Strong transcription	HSMM	muscle
48	chr14:81258400-81259600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:81258400-81259800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:81258600-81259600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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