Variant report

Variant	rs10148185
Chromosome Location	chr14:63921188-63921189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr14:63920085-63922118	PBDE	blood:	n/a	chr14:63920615-63920625 chr14:63920350-63920359 chr14:63921893-63921903
2	IRF1	chr14:63920040-63921696	K562	blood:	n/a	chr14:63920391-63920405 chr14:63920392-63920406 chr14:63920390-63920404

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63920593..63922166-chr14:63924596..63926505,2	K562	blood:

Variant related genes	Relation type
PPP2R5E	TF binding region

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1012145	0.83[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10129170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10130074	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10132996	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10133014	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137243	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137259	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137279	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10138187	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10138274	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10138372	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10138832	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10139028	0.96[EUR][1000 genomes]
rs10139725	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10140679	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10140710	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10140718	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10141179	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10144700	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10145422	0.83[CEU][hapmap];0.95[EUR][1000 genomes]
rs10146848	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10149549	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10152067	0.83[CEU][hapmap];0.96[EUR][1000 genomes]
rs1033742	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1033744	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1033745	0.95[EUR][1000 genomes]
rs1033747	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10483773	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11158492	0.83[CEU][hapmap];0.98[EUR][1000 genomes]
rs11158493	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11850626	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12323479	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]
rs12434321	0.89[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1475040	0.83[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17093492	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17101205	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17101207	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17101238	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17101239	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17101242	0.86[EUR][1000 genomes]
rs17225252	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17225266	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17825105	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951212	0.83[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1951213	0.83[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1957045	0.82[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes]
rs2016629	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2064953	0.86[EUR][1000 genomes]
rs2064954	0.86[EUR][1000 genomes]
rs2180876	0.86[EUR][1000 genomes]
rs28372244	0.96[EUR][1000 genomes]
rs28394515	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28496722	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28522688	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28560307	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28579385	0.96[EUR][1000 genomes]
rs28592209	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28620591	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28683743	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28696283	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28711489	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28758626	0.96[EUR][1000 genomes]
rs3783741	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783743	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4391977	0.83[CEU][hapmap];0.96[EUR][1000 genomes]
rs4899113	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]
rs4902226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902227	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902229	0.86[EUR][1000 genomes]
rs4902232	0.83[EUR][1000 genomes]
rs55859128	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57760311	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60644154	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61627079	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6573518	0.83[CEU][hapmap];0.96[EUR][1000 genomes]
rs6573519	0.83[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6573520	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67442217	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7140763	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7143816	0.83[CEU][hapmap];0.96[EUR][1000 genomes]
rs7144120	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7146069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7147222	0.96[EUR][1000 genomes]
rs7152839	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153764	0.83[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes]
rs7154559	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7161634	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72714239	0.96[EUR][1000 genomes]
rs72714258	0.94[EUR][1000 genomes]
rs72714280	0.93[EUR][1000 genomes]
rs72714283	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8003115	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8003144	0.96[EUR][1000 genomes]
rs8003246	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8003647	0.83[CEU][hapmap];0.96[EUR][1000 genomes]
rs8003956	0.96[EUR][1000 genomes]
rs8004170	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8006981	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8007996	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8008684	0.83[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8014486	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8016306	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8017184	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8018107	0.83[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8018128	0.94[EUR][1000 genomes]
rs8018307	0.83[CEU][hapmap];0.96[EUR][1000 genomes]
rs8018721	0.82[AMR][1000 genomes];0.97[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

No data

Chromatin state (count:116 , 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	chr14:63900600-63921800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:63905000-63921600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:63905000-63925800	Weak transcription	Stomach Mucosa	stomach
6	chr14:63905200-63937600	Weak transcription	Fetal Intestine Small	intestine
7	chr14:63905400-63921600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:63905400-63926400	Weak transcription	Aorta	Aorta
9	chr14:63905400-63937400	Weak transcription	HUVEC	blood vessel
10	chr14:63905600-63921600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr14:63905600-63921600	Weak transcription	NHDF-Ad	bronchial
12	chr14:63905600-63927000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:63905800-63922000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:63906000-63921400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:63906000-63921400	Weak transcription	Adipose Nuclei	Adipose
16	chr14:63906000-63934600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:63906800-63921200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:63906800-63924400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:63907000-63921600	Weak transcription	Gastric	stomach
20	chr14:63907000-63921600	Weak transcription	Spleen	Spleen
21	chr14:63907000-63924800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:63907000-63935000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:63907200-63921600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:63907200-63926000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:63907400-63921200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:63907400-63921600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:63907400-63921800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:63907400-63924200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:63911000-63921600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:63911000-63921600	Weak transcription	Esophagus	oesophagus
31	chr14:63911000-63921600	Weak transcription	Left Ventricle	heart
32	chr14:63911000-63921600	Weak transcription	Lung	lung
33	chr14:63911000-63921600	Weak transcription	Pancreas	Pancrea
34	chr14:63911200-63921400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:63911200-63923800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:63911600-63921600	Weak transcription	Osteobl	bone
37	chr14:63912000-63921800	Weak transcription	Hela-S3	cervix
38	chr14:63914800-63921800	Weak transcription	Small Intestine	intestine
39	chr14:63916400-63927600	Weak transcription	HMEC	breast
40	chr14:63916600-63921800	Weak transcription	NHEK	skin
41	chr14:63916600-63927000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:63917200-63921200	Strong transcription	Primary T cells from cord blood	blood
43	chr14:63917200-63926400	Weak transcription	Fetal Kidney	kidney
44	chr14:63917400-63926600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr14:63918600-63921600	Weak transcription	Ovary	ovary
46	chr14:63918800-63922400	Enhancers	Fetal Heart	heart
47	chr14:63919200-63922200	Enhancers	Brain Hippocampus Middle	brain
48	chr14:63919400-63921600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:63919400-63922000	Enhancers	Colon Smooth Muscle	Colon
50	chr14:63919800-63921400	Weak transcription	Fetal Stomach	stomach

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