Variant report

Variant	rs56176516
Chromosome Location	chr7:129541504-129541505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs12530557	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12531622	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12531936	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532612	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532959	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533033	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533290	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533464	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12533528	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533953	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12534043	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534061	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534320	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535347	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12535722	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535728	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535857	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12536424	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536978	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537150	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537336	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537576	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537604	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537660	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537782	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12538787	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539145	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539653	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12539800	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540479	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12540517	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540541	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12690	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464970	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1464971	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1464972	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1471874	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471877	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17559301	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965567	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1965568	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2631601	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2727457	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34930431	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35189138	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55675451	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732825	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55735840	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55748031	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55767113	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55769831	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55772531	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55798026	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55809128	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56022754	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56025626	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56034137	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56080853	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56085705	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094908	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56117230	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56153730	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56167610	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56191413	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56321762	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56332361	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333543	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56376893	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381627	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56408895	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs718925	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718926	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7639	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
2	chr7:129505600-129545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:129506000-129542800	Weak transcription	Small Intestine	intestine
4	chr7:129513200-129548600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:129516200-129542800	Weak transcription	HSMMtube	muscle
6	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
7	chr7:129517400-129543800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:129518000-129545200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:129518200-129542600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:129518200-129557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:129518200-129564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:129519400-129546400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:129519600-129546400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:129520800-129545600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:129520800-129551200	Weak transcription	Placenta	Placenta
16	chr7:129522000-129548200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:129522600-129542600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:129522600-129544600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:129522600-129547800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:129522600-129548400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:129522600-129548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:129526000-129548200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:129526600-129542600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:129528400-129542200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:129529600-129542800	Weak transcription	K562	blood
26	chr7:129529800-129542400	Weak transcription	Right Ventricle	heart
27	chr7:129529800-129544400	Weak transcription	Right Atrium	heart
28	chr7:129529800-129545000	Weak transcription	Fetal Kidney	kidney
29	chr7:129529800-129545200	Weak transcription	Brain Anterior Caudate	brain
30	chr7:129529800-129546200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr7:129529800-129553400	Weak transcription	Brain Germinal Matrix	brain
32	chr7:129530000-129543600	Weak transcription	Aorta	Aorta
33	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:129530800-129542400	Weak transcription	HepG2	liver
35	chr7:129531600-129548400	Weak transcription	Fetal Brain Female	brain
36	chr7:129533600-129542800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:129535400-129546800	Weak transcription	Colonic Mucosa	Colon
38	chr7:129536000-129542800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:129536200-129548000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:129537000-129542400	Weak transcription	Ovary	ovary
41	chr7:129537000-129546600	Weak transcription	A549	lung
42	chr7:129537000-129554800	Weak transcription	NHDF-Ad	bronchial
43	chr7:129537200-129544200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:129537200-129552000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:129537400-129541800	Weak transcription	Hela-S3	cervix
46	chr7:129538600-129546200	Weak transcription	HUVEC	blood vessel
47	chr7:129538800-129541600	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:129538800-129542800	Weak transcription	Stomach Mucosa	stomach
49	chr7:129539000-129541600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr7:129539000-129542600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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