Variant report

Variant	rs4899113
Chromosome Location	chr14:63916159-63916160
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63909330..63911199-chr14:63914051..63916914,2	K562	blood:
2	chr14:63908908..63911199-chr14:63912596..63917527,4	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1012145	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10129170	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10130074	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10132996	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10133014	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10137243	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10137259	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10137279	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10138187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10138274	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10138372	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10138832	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10139028	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10139725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10140679	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10140710	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10140718	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10141179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10144700	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10145422	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10146848	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10148185	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10149549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10152067	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1033742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1033744	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1033745	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1033747	0.93[CEU][hapmap];0.92[GIH][hapmap];0.85[MEX][hapmap];0.89[EUR][1000 genomes]
rs10483773	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11158492	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs11158493	0.86[GIH][hapmap];0.85[MEX][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs11850626	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12323479	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12433708	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs12434321	0.86[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes]
rs1475040	1.00[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17093492	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17101205	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17101207	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17101238	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17101239	0.88[CEU][hapmap];0.95[EUR][1000 genomes]
rs17101242	0.85[CEU][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes]
rs17225252	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17225266	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17825105	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1951212	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes]
rs1951213	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.99[EUR][1000 genomes]
rs1957045	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2016629	0.97[EUR][1000 genomes]
rs2064953	0.89[EUR][1000 genomes]
rs2064954	0.89[EUR][1000 genomes]
rs2180876	0.89[EUR][1000 genomes]
rs28372244	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28394515	0.98[EUR][1000 genomes]
rs28496722	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28522688	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28560307	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28579385	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28592209	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28620591	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28683743	1.00[EUR][1000 genomes]
rs28696283	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28711489	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28758626	0.99[EUR][1000 genomes]
rs3783741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4391977	1.00[CEU][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4902226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902227	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902229	0.89[EUR][1000 genomes]
rs4902232	0.87[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs55859128	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57760311	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60644154	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61627079	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6573517	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs6573518	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6573519	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs6573520	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573521	0.81[EUR][1000 genomes]
rs67442217	0.95[EUR][1000 genomes]
rs7140763	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7143816	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7144120	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7146069	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7147222	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7152839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7153764	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154559	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7161634	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72714239	0.99[EUR][1000 genomes]
rs72714243	0.82[EUR][1000 genomes]
rs72714258	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72714280	0.96[EUR][1000 genomes]
rs72714283	0.95[EUR][1000 genomes]
rs8003115	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8003144	0.99[EUR][1000 genomes]
rs8003246	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8003647	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8003956	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8004170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8006981	1.00[EUR][1000 genomes]
rs8007996	0.83[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs8008684	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes]
rs8014486	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8016306	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8017184	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8018107	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8018128	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8018307	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8018721	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4899113	HIF1A	cis	parietal	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63851200-63922000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:63854800-63922400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:63887400-63918600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:63887400-63918800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:63900600-63921800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:63905000-63921600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:63905000-63925800	Weak transcription	Stomach Mucosa	stomach
8	chr14:63905200-63918000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:63905200-63918200	Weak transcription	Thymus	Thymus
10	chr14:63905200-63919000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:63905200-63919200	Weak transcription	K562	blood
12	chr14:63905200-63919600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:63905200-63937600	Weak transcription	Fetal Intestine Small	intestine
14	chr14:63905400-63917600	Weak transcription	Fetal Brain Female	brain
15	chr14:63905400-63917600	Weak transcription	Fetal Thymus	thymus
16	chr14:63905400-63918200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:63905400-63918200	Weak transcription	Fetal Intestine Large	intestine
18	chr14:63905400-63918400	Weak transcription	Fetal Stomach	stomach
19	chr14:63905400-63918800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:63905400-63918800	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:63905400-63918800	Weak transcription	Placenta	Placenta
22	chr14:63905400-63921600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:63905400-63926400	Weak transcription	Aorta	Aorta
24	chr14:63905400-63937400	Weak transcription	HUVEC	blood vessel
25	chr14:63905600-63917600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr14:63905600-63918200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr14:63905600-63918200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:63905600-63918200	Weak transcription	NHLF	lung
29	chr14:63905600-63918800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:63905600-63918800	Weak transcription	HSMM	muscle
31	chr14:63905600-63919000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:63905600-63919000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:63905600-63919200	Weak transcription	NH-A	brain
34	chr14:63905600-63919600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:63905600-63920200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:63905600-63921600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:63905600-63921600	Weak transcription	NHDF-Ad	bronchial
38	chr14:63905600-63927000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:63905800-63917600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:63905800-63922000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:63906000-63918200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:63906000-63918600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:63906000-63919200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr14:63906000-63921400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:63906000-63921400	Weak transcription	Adipose Nuclei	Adipose
46	chr14:63906000-63934600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:63906200-63918800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr14:63906800-63918000	Weak transcription	GM12878-XiMat	blood
49	chr14:63906800-63919000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr14:63906800-63921200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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