Variant report

Variant	rs4580079
Chromosome Location	chr14:55780366-55780367
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	chr14:55775251..55779667-chr14:55780270..55783872,4	K562	blood:

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10129505	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131562	0.96[CEU][hapmap];0.83[ASN][1000 genomes]
rs10131730	1.00[CEU][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10131913	0.82[ASN][1000 genomes]
rs10132453	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10134317	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10136596	0.82[ASN][1000 genomes]
rs10137307	0.82[ASN][1000 genomes]
rs10139000	0.82[ASN][1000 genomes]
rs10139083	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10139337	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10139683	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140063	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10140869	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10141396	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10141483	0.83[ASN][1000 genomes]
rs10141552	0.93[ASN][1000 genomes]
rs10142448	0.83[ASN][1000 genomes]
rs10142547	0.82[ASN][1000 genomes]
rs10142803	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10143136	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10144418	0.83[ASN][1000 genomes]
rs10145203	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10146637	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10147765	0.83[ASN][1000 genomes]
rs10150760	0.83[ASN][1000 genomes]
rs1045002	0.83[ASN][1000 genomes]
rs1109170	0.83[ASN][1000 genomes]
rs11158034	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11158037	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11621089	0.82[EUR][1000 genomes]
rs11622636	0.92[CEU][hapmap]
rs11625001	0.95[ASN][1000 genomes]
rs11625423	0.95[ASN][1000 genomes]
rs11626751	0.83[ASN][1000 genomes]
rs11628437	0.97[ASN][1000 genomes]
rs11848456	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11848575	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11851169	0.83[ASN][1000 genomes]
rs12050099	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12050123	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1572611	0.83[ASN][1000 genomes]
rs17672058	0.81[EUR][1000 genomes]
rs17672364	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs17674463	0.83[ASN][1000 genomes]
rs17674563	0.83[ASN][1000 genomes]
rs17740551	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17740741	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17741542	0.88[ASN][1000 genomes]
rs17741831	0.83[ASN][1000 genomes]
rs1972221	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2016931	0.82[ASN][1000 genomes]
rs2026633	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2094436	0.81[EUR][1000 genomes]
rs2147970	0.81[EUR][1000 genomes]
rs2209808	0.86[ASN][1000 genomes]
rs2296489	0.88[CEU][hapmap]
rs2297816	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2340936	0.80[EUR][1000 genomes]
rs28428911	0.82[ASN][1000 genomes]
rs28430823	0.83[ASN][1000 genomes]
rs28452705	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28493647	0.83[ASN][1000 genomes]
rs28504448	0.89[ASN][1000 genomes]
rs28568813	0.81[ASN][1000 genomes]
rs28612464	0.83[ASN][1000 genomes]
rs28660594	0.82[ASN][1000 genomes]
rs2880103	0.96[CEU][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35112084	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742569	0.83[ASN][1000 genomes]
rs3759667	0.84[CEU][hapmap]
rs3783648	0.83[ASN][1000 genomes]
rs3783649	0.83[ASN][1000 genomes]
rs3783651	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3783652	0.82[ASN][1000 genomes]
rs3825614	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs4040064	0.87[EUR][1000 genomes]
rs4366639	0.94[ASN][1000 genomes]
rs4496026	0.94[ASN][1000 genomes]
rs56166765	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56949365	0.92[ASN][1000 genomes]
rs58260073	0.95[ASN][1000 genomes]
rs58269011	0.87[EUR][1000 genomes]
rs58296156	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58458194	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59629906	0.98[ASN][1000 genomes]
rs59871474	0.95[ASN][1000 genomes]
rs60248556	0.95[ASN][1000 genomes]
rs61210954	0.82[ASN][1000 genomes]
rs66464079	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66476033	0.81[EUR][1000 genomes]
rs66551709	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66696758	0.97[ASN][1000 genomes]
rs67008693	0.88[EUR][1000 genomes]
rs67092614	0.81[EUR][1000 genomes]
rs67215571	0.81[EUR][1000 genomes]
rs67386901	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67412516	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67416413	0.88[EUR][1000 genomes]
rs67514154	0.97[ASN][1000 genomes]
rs67588230	0.81[EUR][1000 genomes]
rs67795323	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67822108	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67958555	0.81[EUR][1000 genomes]
rs68046603	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs68138420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140628	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7144737	0.83[ASN][1000 genomes]
rs7147136	0.83[ASN][1000 genomes]
rs7147247	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148171	0.82[ASN][1000 genomes]
rs7150234	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7150763	1.00[CEU][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7151581	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7151754	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7152390	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7153612	0.98[ASN][1000 genomes]
rs7153645	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7154796	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7154831	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7155954	0.91[CEU][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7157308	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7158768	0.81[ASN][1000 genomes]
rs7158791	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7158861	0.94[ASN][1000 genomes]
rs7159824	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7161439	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72715769	0.97[ASN][1000 genomes]
rs72717738	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73263927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8003279	0.82[CEU][hapmap]
rs8005117	0.93[EUR][1000 genomes]
rs8005450	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8008119	0.83[ASN][1000 genomes]
rs8013713	0.83[ASN][1000 genomes]
rs8014477	1.00[CEU][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8014540	1.00[CEU][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8015211	1.00[CEU][hapmap];0.84[ASN][1000 genomes]
rs8021583	0.95[ASN][1000 genomes]
rs8022225	0.80[ASN][1000 genomes]
rs9323285	0.96[CEU][hapmap]
rs9919923	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9919926	0.81[ASN][1000 genomes]
rs9919932	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55768600-55783800	Weak transcription	Right Ventricle	heart
2	chr14:55768800-55786400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:55770800-55783800	Weak transcription	Fetal Kidney	kidney
4	chr14:55773600-55783000	Weak transcription	Pancreas	Pancrea
5	chr14:55774200-55782000	Weak transcription	Fetal Lung	lung
6	chr14:55775000-55783000	Weak transcription	Left Ventricle	heart
7	chr14:55775600-55780400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr14:55776600-55786600	Weak transcription	Fetal Brain Male	brain
9	chr14:55777000-55780600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr14:55777000-55792800	Weak transcription	Brain Angular Gyrus	brain
11	chr14:55777000-55795000	Weak transcription	NHDF-Ad	bronchial
12	chr14:55777200-55780400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr14:55777200-55780600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:55777200-55783800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:55777200-55799000	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:55777400-55780600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr14:55777400-55782600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr14:55777400-55795000	Weak transcription	Osteobl	bone
19	chr14:55777400-55799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:55777600-55780400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:55777800-55780400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
22	chr14:55778000-55780800	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr14:55778000-55781000	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr14:55778000-55782600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:55778200-55780600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:55778200-55785200	Weak transcription	Small Intestine	intestine
27	chr14:55778400-55780800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:55778400-55782400	Weak transcription	Stomach Mucosa	stomach
29	chr14:55778800-55780400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
30	chr14:55778800-55780600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr14:55778800-55780800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:55779000-55780600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
33	chr14:55779000-55780800	ZNF genes & repeats	Fetal Brain Female	brain
34	chr14:55779200-55781000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:55779200-55793800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:55779200-55798800	Weak transcription	K562	blood
37	chr14:55779200-55817600	Weak transcription	Hela-S3	cervix
38	chr14:55779400-55783800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:55779600-55780600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
40	chr14:55779600-55780600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:55779600-55780600	ZNF genes & repeats	A549	lung
42	chr14:55779600-55782000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:55779600-55782200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:55779600-55782400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:55779600-55782400	Weak transcription	Aorta	Aorta
46	chr14:55779600-55783000	Weak transcription	Fetal Stomach	stomach
47	chr14:55779600-55783600	Weak transcription	Gastric	stomach
48	chr14:55779600-55783800	Weak transcription	Colonic Mucosa	Colon
49	chr14:55779600-55784400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:55779600-55789200	Weak transcription	HUVEC	blood vessel

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