Variant report

Variant	rs73263927
Chromosome Location	chr14:55778808-55778809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55777470..55779431-chr14:55780841..55782383,2	K562	blood:
2	chr14:55775251..55779667-chr14:55780270..55783872,4	K562	blood:

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10129505	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10131562	0.82[ASN][1000 genomes]
rs10131730	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10131913	0.81[ASN][1000 genomes]
rs10132453	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10134317	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10136596	0.81[ASN][1000 genomes]
rs10137307	0.81[ASN][1000 genomes]
rs10139000	0.81[ASN][1000 genomes]
rs10139083	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10139337	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10139683	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10140063	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10140869	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10141396	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141483	0.82[ASN][1000 genomes]
rs10141552	0.92[ASN][1000 genomes]
rs10142448	0.81[ASN][1000 genomes]
rs10142547	0.81[ASN][1000 genomes]
rs10142803	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10143136	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10144418	0.81[ASN][1000 genomes]
rs10145203	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10146637	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10147765	0.82[ASN][1000 genomes]
rs10150760	0.82[ASN][1000 genomes]
rs1045002	0.81[ASN][1000 genomes]
rs1109170	0.82[ASN][1000 genomes]
rs11158034	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11158037	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11621089	0.82[EUR][1000 genomes]
rs11625001	0.94[ASN][1000 genomes]
rs11625423	0.94[ASN][1000 genomes]
rs11626751	0.81[ASN][1000 genomes]
rs11628437	0.95[ASN][1000 genomes]
rs11848456	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11848575	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11851169	0.81[ASN][1000 genomes]
rs12050099	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12050123	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1572611	0.81[ASN][1000 genomes]
rs17672058	0.81[EUR][1000 genomes]
rs17672364	0.89[EUR][1000 genomes]
rs17674463	0.82[ASN][1000 genomes]
rs17674563	0.82[ASN][1000 genomes]
rs17740551	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17740741	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17741542	0.86[ASN][1000 genomes]
rs17741831	0.81[ASN][1000 genomes]
rs1972221	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2016931	0.81[ASN][1000 genomes]
rs2026633	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2094436	0.81[EUR][1000 genomes]
rs2147970	0.81[EUR][1000 genomes]
rs2209808	0.85[ASN][1000 genomes]
rs2297816	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2340936	0.80[EUR][1000 genomes]
rs28428911	0.81[ASN][1000 genomes]
rs28430823	0.81[ASN][1000 genomes]
rs28452705	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28493647	0.82[ASN][1000 genomes]
rs28504448	0.87[ASN][1000 genomes]
rs28612464	0.81[ASN][1000 genomes]
rs28660594	0.81[ASN][1000 genomes]
rs2880103	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35112084	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742569	0.81[ASN][1000 genomes]
rs3783648	0.81[ASN][1000 genomes]
rs3783649	0.82[ASN][1000 genomes]
rs3783651	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3783652	0.81[ASN][1000 genomes]
rs3825614	0.93[EUR][1000 genomes]
rs4040064	0.87[EUR][1000 genomes]
rs4366639	0.92[ASN][1000 genomes]
rs4496026	0.92[ASN][1000 genomes]
rs4580079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56166765	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56949365	0.91[ASN][1000 genomes]
rs58260073	0.93[ASN][1000 genomes]
rs58269011	0.87[EUR][1000 genomes]
rs58296156	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58458194	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59629906	0.97[ASN][1000 genomes]
rs59871474	0.94[ASN][1000 genomes]
rs60248556	0.94[ASN][1000 genomes]
rs61210954	0.81[ASN][1000 genomes]
rs66464079	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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];0.95[ASN][1000 genomes]
rs66696758	0.95[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];0.95[ASN][1000 genomes]
rs67412516	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67416413	0.88[EUR][1000 genomes]
rs67514154	0.95[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];0.95[ASN][1000 genomes]
rs67822108	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67958555	0.81[EUR][1000 genomes]
rs68046603	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs68138420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7140628	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7144737	0.82[ASN][1000 genomes]
rs7147136	0.82[ASN][1000 genomes]
rs7147247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7148171	0.80[ASN][1000 genomes]
rs7150234	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7150763	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7151581	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7151754	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7152390	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7153612	0.96[ASN][1000 genomes]
rs7153645	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7154796	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7154831	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7155954	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7157308	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7158791	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7158861	0.92[ASN][1000 genomes]
rs7159824	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7161439	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72715769	0.95[ASN][1000 genomes]
rs72717738	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8005117	0.93[EUR][1000 genomes]
rs8005450	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8008119	0.82[ASN][1000 genomes]
rs8013713	0.82[ASN][1000 genomes]
rs8014477	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8014540	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8015211	0.83[ASN][1000 genomes]
rs8021583	0.94[ASN][1000 genomes]
rs9919923	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9919932	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55756400-55779000	Weak transcription	Gastric	stomach
2	chr14:55765000-55779000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr14:55766000-55779000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:55768600-55783800	Weak transcription	Right Ventricle	heart
5	chr14:55768800-55779000	Weak transcription	Aorta	Aorta
6	chr14:55768800-55786400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:55769400-55779000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr14:55769400-55779200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:55769600-55779000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:55770200-55779000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:55770800-55779400	Weak transcription	HSMMtube	muscle
12	chr14:55770800-55783800	Weak transcription	Fetal Kidney	kidney
13	chr14:55771400-55779000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:55773600-55783000	Weak transcription	Pancreas	Pancrea
15	chr14:55774200-55779000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:55774200-55779000	Weak transcription	Colonic Mucosa	Colon
17	chr14:55774200-55782000	Weak transcription	Fetal Lung	lung
18	chr14:55775000-55779000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:55775000-55783000	Weak transcription	Left Ventricle	heart
20	chr14:55775600-55780400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr14:55776200-55780200	Weak transcription	Psoas Muscle	Psoas
22	chr14:55776600-55786600	Weak transcription	Fetal Brain Male	brain
23	chr14:55776800-55779000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:55776800-55779200	Weak transcription	HUVEC	blood vessel
25	chr14:55776800-55779800	ZNF genes & repeats	Dnd41	blood
26	chr14:55777000-55779000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr14:55777000-55779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:55777000-55780600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr14:55777000-55792800	Weak transcription	Brain Angular Gyrus	brain
30	chr14:55777000-55795000	Weak transcription	NHDF-Ad	bronchial
31	chr14:55777200-55779000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:55777200-55779200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:55777200-55780200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr14:55777200-55780400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr14:55777200-55780600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:55777200-55783800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:55777200-55799000	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:55777400-55780600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr14:55777400-55782600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr14:55777400-55795000	Weak transcription	Osteobl	bone
41	chr14:55777400-55799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:55777600-55780400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:55777800-55779800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr14:55777800-55780400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
45	chr14:55778000-55779000	Weak transcription	Ovary	ovary
46	chr14:55778000-55779400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:55778000-55779600	Weak transcription	A549	lung
48	chr14:55778000-55780200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:55778000-55780800	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr14:55778000-55781000	ZNF genes & repeats	Fetal Muscle Leg	muscle

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