Variant report

Variant	rs28504448
Chromosome Location	chr14:55789657-55789658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10129505	0.89[ASN][1000 genomes]
rs10131913	0.86[EUR][1000 genomes]
rs10134317	0.87[ASN][1000 genomes]
rs10136596	0.84[AMR][1000 genomes]
rs10139000	0.87[AMR][1000 genomes]
rs10139083	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10139337	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10139678	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10139683	0.80[ASN][1000 genomes]
rs10140869	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10141483	0.86[EUR][1000 genomes]
rs10141552	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10142547	0.83[EUR][1000 genomes]
rs10142803	0.85[ASN][1000 genomes]
rs10143136	0.86[ASN][1000 genomes]
rs10145203	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10146637	0.86[ASN][1000 genomes]
rs10147765	0.84[AMR][1000 genomes]
rs10150760	0.83[AMR][1000 genomes]
rs1045002	0.84[AMR][1000 genomes]
rs1109170	0.86[EUR][1000 genomes]
rs11158034	0.87[ASN][1000 genomes]
rs11547116	0.81[EUR][1000 genomes]
rs11625001	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11625423	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11626751	0.83[AMR][1000 genomes]
rs11628437	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11848456	0.86[ASN][1000 genomes]
rs11848575	0.86[ASN][1000 genomes]
rs11851169	0.84[AMR][1000 genomes]
rs12050099	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13379169	0.81[EUR][1000 genomes]
rs17674463	0.81[AMR][1000 genomes]
rs17740551	0.87[ASN][1000 genomes]
rs17740741	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17741542	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17741831	0.84[AMR][1000 genomes]
rs1972221	0.89[ASN][1000 genomes]
rs2026633	0.89[ASN][1000 genomes]
rs28428911	0.83[AMR][1000 genomes]
rs28430823	0.84[AMR][1000 genomes]
rs28493647	0.81[AMR][1000 genomes]
rs28568813	0.85[EUR][1000 genomes]
rs28612464	0.84[AMR][1000 genomes]
rs28660594	0.85[AMR][1000 genomes]
rs2880103	0.80[ASN][1000 genomes]
rs35112084	0.89[ASN][1000 genomes]
rs3742569	0.81[AMR][1000 genomes]
rs3783652	0.85[AMR][1000 genomes]
rs4366639	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4496026	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4580079	0.89[ASN][1000 genomes]
rs56949365	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58260073	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58458194	0.85[ASN][1000 genomes]
rs59629906	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59871474	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60248556	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61210954	0.83[EUR][1000 genomes]
rs6573014	0.81[EUR][1000 genomes]
rs66464079	0.87[ASN][1000 genomes]
rs66551709	0.87[ASN][1000 genomes]
rs66696758	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67386901	0.86[ASN][1000 genomes]
rs67514154	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67795323	0.87[ASN][1000 genomes]
rs67822108	0.86[ASN][1000 genomes]
rs68046603	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68138420	0.89[ASN][1000 genomes]
rs7140628	0.87[ASN][1000 genomes]
rs7144737	0.84[AMR][1000 genomes]
rs7146748	0.81[EUR][1000 genomes]
rs7146752	0.81[EUR][1000 genomes]
rs7147247	0.89[ASN][1000 genomes]
rs7148171	0.83[EUR][1000 genomes]
rs7151581	0.89[ASN][1000 genomes]
rs7151754	0.89[ASN][1000 genomes]
rs7153612	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7153645	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7154796	0.88[ASN][1000 genomes]
rs7155954	0.87[ASN][1000 genomes]
rs7157308	0.89[ASN][1000 genomes]
rs7158768	0.83[EUR][1000 genomes]
rs7158861	0.86[ASN][1000 genomes]
rs7159824	0.87[ASN][1000 genomes]
rs72715769	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73263927	0.87[ASN][1000 genomes]
rs8008119	0.81[AMR][1000 genomes]
rs8013713	0.84[AMR][1000 genomes]
rs8021583	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8022225	0.80[EUR][1000 genomes]
rs943590	0.81[EUR][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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55777000-55792800	Weak transcription	Brain Angular Gyrus	brain
2	chr14:55777000-55795000	Weak transcription	NHDF-Ad	bronchial
3	chr14:55777200-55799000	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:55777400-55795000	Weak transcription	Osteobl	bone
5	chr14:55777400-55799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:55779200-55793800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:55779200-55798800	Weak transcription	K562	blood
8	chr14:55779200-55817600	Weak transcription	Hela-S3	cervix
9	chr14:55779600-55795200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:55779600-55796800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:55779600-55796800	Weak transcription	Ovary	ovary
12	chr14:55779600-55797200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:55779600-55799600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:55779600-55801200	Weak transcription	Esophagus	oesophagus
15	chr14:55779800-55794400	Weak transcription	HepG2	liver
16	chr14:55779800-55794800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:55779800-55795400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:55779800-55800800	Weak transcription	Adipose Nuclei	Adipose
19	chr14:55780000-55797200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr14:55780000-55797800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:55780200-55790000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:55780200-55792600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:55780200-55793600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr14:55780200-55807800	Weak transcription	Thymus	Thymus
25	chr14:55780400-55790400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr14:55780400-55793600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr14:55780600-55792600	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:55780600-55795200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:55780600-55796800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:55780600-55799000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:55780600-55800600	Weak transcription	NHEK	skin
32	chr14:55780600-55806200	Weak transcription	HMEC	breast
33	chr14:55780800-55799400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:55780800-55800800	Weak transcription	Lung	lung
35	chr14:55780800-55817200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr14:55781400-55799600	Weak transcription	NH-A	brain
37	chr14:55782000-55817200	Weak transcription	HSMM	muscle
38	chr14:55782200-55792400	Weak transcription	Brain Anterior Caudate	brain
39	chr14:55782600-55790200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:55782600-55792600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:55782600-55795000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:55782600-55796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr14:55782800-55790600	Weak transcription	Fetal Lung	lung
44	chr14:55782800-55790800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:55782800-55791600	Weak transcription	Fetal Brain Female	brain
46	chr14:55782800-55792600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:55782800-55792600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:55782800-55792600	Weak transcription	Brain Germinal Matrix	brain
49	chr14:55783000-55798800	Weak transcription	Liver	Liver
50	chr14:55783200-55792600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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