Variant report

Variant	rs4903948
Chromosome Location	chr14:81392124-81392125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10136404	0.89[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1016507	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1025253	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035144	0.81[JPT][hapmap]
rs11623416	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11627019	0.87[ASN][1000 genomes]
rs11627929	0.88[ASN][1000 genomes]
rs12431821	0.96[CEU][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap]
rs12432357	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12434564	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12878945	0.85[GIH][hapmap];0.95[JPT][hapmap]
rs12880014	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs12888082	0.81[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12891585	0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs12892825	0.84[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12895801	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1458993	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1597320	1.00[YRI][hapmap]
rs17111270	0.84[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs172920	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17542615	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17542712	0.85[GIH][hapmap];0.95[JPT][hapmap]
rs17613911	0.88[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs17614081	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1797670	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2044737	0.86[AMR][1000 genomes]
rs2044738	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2114703	0.84[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2162548	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2215981	0.88[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs2217174	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2217176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2246617	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs228110	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228111	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228112	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs228118	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228120	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228121	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228125	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2371413	1.00[YRI][hapmap]
rs2371416	0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2371457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371462	0.84[CEU][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2556601	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2556605	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2590480	0.81[ASW][hapmap];0.94[CHD][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs2888046	0.83[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35540104	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3742721	0.84[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3742722	0.84[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4411444	0.81[JPT][hapmap]
rs4523859	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]
rs4899782	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4899783	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4903954	0.88[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61979452	0.81[EUR][1000 genomes]
rs6574605	0.81[ASW][hapmap];0.91[CHD][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs6574613	0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67065081	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7141130	0.84[EUR][1000 genomes]
rs7141434	0.88[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.86[TSI][hapmap]
rs71416852	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7143407	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7143744	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7148368	0.92[CEU][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap]
rs7148618	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7150858	0.85[CEU][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap]
rs7153979	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7154132	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154373	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs728444	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs759916	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs759917	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8003784	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8005809	1.00[YRI][hapmap]
rs8005883	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006507	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8006864	1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8009120	0.84[CEU][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8009260	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8016601	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs8021137	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8022411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4903948	C14orf145	cis	parietal	SCAN
rs4903948	C14orf179	cis	cerebellum	SCAN
rs4903948	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:81357800-81392600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:81358000-81396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:81359400-81406000	Weak transcription	A549	lung
5	chr14:81359800-81396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:81360200-81393800	Weak transcription	HMEC	breast
8	chr14:81362200-81392600	Weak transcription	NH-A	brain
9	chr14:81362200-81392800	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:81364400-81395800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:81364400-81395800	Weak transcription	GM12878-XiMat	blood
12	chr14:81365200-81393000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:81369600-81397200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:81370400-81393600	Weak transcription	NHEK	skin
15	chr14:81371600-81392800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:81373600-81392600	Weak transcription	Esophagus	oesophagus
17	chr14:81373800-81392200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:81375400-81407600	Weak transcription	Gastric	stomach
19	chr14:81375800-81392800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:81379200-81392400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:81380000-81392600	Weak transcription	Right Ventricle	heart
23	chr14:81380800-81392800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr14:81382600-81392400	Weak transcription	HSMM	muscle
25	chr14:81382600-81392600	Weak transcription	Left Ventricle	heart
26	chr14:81382600-81393200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:81382800-81396000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr14:81382800-81396200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr14:81382800-81396800	Weak transcription	Primary B cells from cord blood	blood
31	chr14:81382800-81397200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:81382800-81397200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:81383000-81392200	Weak transcription	Thymus	Thymus
34	chr14:81383400-81393600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:81384600-81392800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr14:81386800-81392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr14:81388200-81393600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:81390000-81392200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:81390000-81405000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:81391000-81392600	Weak transcription	Fetal Thymus	thymus
43	chr14:81391200-81392600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr14:81391200-81393600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr14:81391400-81392200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:81391800-81392200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:81391800-81392400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:81391800-81393000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
49	chr14:81392000-81392600	ZNF genes & repeats	Fetal Stomach	stomach
50	chr14:81392000-81392800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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