Variant report

Variant	rs4223
Chromosome Location	chr14:77893276-77893277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77886973..77888948-chr14:77891766..77893431,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10133896	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10431633	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10431634	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10431726	0.85[AMR][1000 genomes]
rs1061629	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];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1061638	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11159258	0.91[EUR][1000 genomes]
rs11159259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11159261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11159262	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11159263	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11159264	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11622359	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11622832	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11623826	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624068	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624200	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11624990	0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11625129	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11625365	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627016	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627385	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11844594	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes]
rs12101153	0.84[EUR][1000 genomes]
rs12432247	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12433766	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12435136	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs12436593	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12590773	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12878121	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12879316	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12885869	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886224	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12889722	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13379432	0.87[CHD][hapmap]
rs147316	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176766	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs176767	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs176768	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs176772	0.91[EUR][1000 genomes]
rs176773	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176778	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs176781	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17824034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.91[EUR][1000 genomes]
rs17824214	0.85[CHD][hapmap]
rs17824316	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2063997	0.87[CHD][hapmap]
rs2091916	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];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2193595	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes]
rs2242619	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364156	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35881785	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4369582	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575469	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4899652	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs4899654	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4899655	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903576	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes]
rs4903577	0.85[EUR][1000 genomes]
rs4903579	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs4903580	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.84[EUR][1000 genomes]
rs4903583	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903584	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903586	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6574372	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]
rs66466131	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67344054	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7142380	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7146595	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7146784	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7150718	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7155063	0.87[CHD][hapmap]
rs7250	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs760257	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8005759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8006688	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8016070	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016576	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017215	0.87[CHD][hapmap]
rs8018513	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8018711	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018808	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs963283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1362	chr14:77853202-77898605	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4223	C14orf148	cis	cerebellum	SCAN
rs4223	TMED8	cis	lung	GTEx
rs4223	AHSA1	cis	parietal	SCAN
rs4223	RPS6KL1	cis	cerebellum	SCAN
rs4223	C14orf174	cis	parietal	SCAN
rs4223	C14orf148	cis	parietal	SCAN
rs4223	ESRRB	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77880400-77894400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:77886600-77895200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr14:77886600-77896200	Strong transcription	A549	lung
4	chr14:77886800-77893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:77887000-77896000	Strong transcription	Brain Germinal Matrix	brain
6	chr14:77887000-77919800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:77887000-77920400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:77887200-77896600	Strong transcription	Brain Inferior Temporal Lobe	brain
9	chr14:77887200-77904200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:77887200-77910800	Strong transcription	Primary B cells from cord blood	blood
11	chr14:77887200-77920200	Strong transcription	Placenta	Placenta
12	chr14:77887200-77920600	Strong transcription	Primary T cells from cord blood	blood
13	chr14:77887400-77896200	Strong transcription	Left Ventricle	heart
14	chr14:77887400-77896400	Strong transcription	Ovary	ovary
15	chr14:77887400-77904200	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr14:77887400-77904400	Strong transcription	Adipose Nuclei	Adipose
17	chr14:77887400-77920000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr14:77887400-77920400	Strong transcription	Liver	Liver
19	chr14:77887600-77896200	Strong transcription	Brain Cingulate Gyrus	brain
20	chr14:77887600-77904200	Strong transcription	Brain Hippocampus Middle	brain
21	chr14:77887600-77904400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr14:77887600-77904400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr14:77887600-77913000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:77887600-77920000	Strong transcription	Fetal Intestine Large	intestine
25	chr14:77887800-77898000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:77887800-77904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:77887800-77904400	Strong transcription	Brain Angular Gyrus	brain
28	chr14:77887800-77920000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr14:77888000-77896400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:77888000-77904000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:77888000-77904200	Strong transcription	Fetal Muscle Leg	muscle
32	chr14:77888000-77904200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr14:77888000-77920000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:77888200-77903800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:77888200-77920400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr14:77888400-77893600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:77888400-77896200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:77888400-77904400	Strong transcription	Fetal Brain Female	brain
39	chr14:77888400-77920000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:77888600-77896200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:77888600-77896200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:77888600-77896200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:77888600-77896200	Strong transcription	Fetal Stomach	stomach
44	chr14:77888600-77896200	Strong transcription	Fetal Thymus	thymus
45	chr14:77888600-77896200	Strong transcription	Lung	lung
46	chr14:77888600-77896200	Strong transcription	Pancreas	Pancrea
47	chr14:77888600-77896200	Strong transcription	HSMM	muscle
48	chr14:77888600-77898800	Strong transcription	GM12878-XiMat	blood
49	chr14:77888600-77903000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:77888600-77904200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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