Variant report

Variant	rs56143128
Chromosome Location	chr6:71267666-71267667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10214805	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10455706	0.86[EUR][1000 genomes]
rs1048886	0.84[EUR][1000 genomes]
rs10945230	0.95[EUR][1000 genomes]
rs10945231	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10945235	0.85[EUR][1000 genomes]
rs11965656	0.90[EUR][1000 genomes]
rs1208480	0.82[EUR][1000 genomes]
rs12180997	0.86[EUR][1000 genomes]
rs12191321	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12197942	0.95[EUR][1000 genomes]
rs12197963	0.95[EUR][1000 genomes]
rs12200777	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12201029	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12203089	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12203298	0.95[EUR][1000 genomes]
rs12209965	0.95[EUR][1000 genomes]
rs12216376	0.95[EUR][1000 genomes]
rs12524814	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12525538	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12525777	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12526164	0.94[EUR][1000 genomes]
rs12526787	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12526827	0.90[EUR][1000 genomes]
rs12526961	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12527634	0.92[EUR][1000 genomes]
rs12528385	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12528866	0.90[EUR][1000 genomes]
rs12529284	0.96[EUR][1000 genomes]
rs12529309	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12530057	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12530358	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16869267	0.90[EUR][1000 genomes]
rs16869340	0.88[EUR][1000 genomes]
rs16869353	0.96[EUR][1000 genomes]
rs16869370	0.87[EUR][1000 genomes]
rs16869371	0.96[EUR][1000 genomes]
rs16869373	0.96[EUR][1000 genomes]
rs1739338	0.82[EUR][1000 genomes]
rs17634272	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17634491	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17635446	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17635510	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17706748	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17706833	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17713105	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17713212	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17713547	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2207423	0.94[EUR][1000 genomes]
rs2207425	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2273210	0.90[EUR][1000 genomes]
rs2293297	0.96[EUR][1000 genomes]
rs2295200	0.92[EUR][1000 genomes]
rs2346890	0.92[EUR][1000 genomes]
rs2639291	0.82[EUR][1000 genomes]
rs2639297	0.84[EUR][1000 genomes]
rs2691486	0.82[EUR][1000 genomes]
rs2691488	0.82[EUR][1000 genomes]
rs2691490	0.82[EUR][1000 genomes]
rs2691493	0.80[EUR][1000 genomes]
rs2691494	0.82[EUR][1000 genomes]
rs2691495	0.80[EUR][1000 genomes]
rs2691496	0.82[EUR][1000 genomes]
rs2842063	0.86[EUR][1000 genomes]
rs2842081	0.82[EUR][1000 genomes]
rs2881632	0.82[EUR][1000 genomes]
rs3193656	0.96[EUR][1000 genomes]
rs34246525	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35159719	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3846750	0.83[EUR][1000 genomes]
rs3889007	0.83[EUR][1000 genomes]
rs41265349	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4283855	0.82[EUR][1000 genomes]
rs4496758	0.86[EUR][1000 genomes]
rs45460797	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55639214	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55761717	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55968813	0.91[EUR][1000 genomes]
rs55990553	0.85[EUR][1000 genomes]
rs55990831	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56074506	0.96[EUR][1000 genomes]
rs56114703	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56179165	0.96[EUR][1000 genomes]
rs56322111	0.96[EUR][1000 genomes]
rs56397968	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58370765	0.87[EUR][1000 genomes]
rs58637377	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59275635	0.88[EUR][1000 genomes]
rs59698166	0.86[EUR][1000 genomes]
rs6455369	0.81[EUR][1000 genomes]
rs6455370	0.88[EUR][1000 genomes]
rs6900840	0.82[EUR][1000 genomes]
rs6901232	0.82[EUR][1000 genomes]
rs6901904	0.90[EUR][1000 genomes]
rs6906592	0.82[EUR][1000 genomes]
rs6911812	0.82[EUR][1000 genomes]
rs6911983	0.96[EUR][1000 genomes]
rs6913548	0.92[EUR][1000 genomes]
rs6916974	0.96[EUR][1000 genomes]
rs6918393	0.82[EUR][1000 genomes]
rs6919794	0.82[EUR][1000 genomes]
rs6920515	0.84[EUR][1000 genomes]
rs6933150	0.92[EUR][1000 genomes]
rs6940416	0.87[EUR][1000 genomes]
rs6941595	0.96[EUR][1000 genomes]
rs6942012	0.88[EUR][1000 genomes]
rs73474998	0.90[EUR][1000 genomes]
rs73478819	0.90[EUR][1000 genomes]
rs73480275	0.95[EUR][1000 genomes]
rs73480280	0.95[EUR][1000 genomes]
rs73482554	0.90[EUR][1000 genomes]
rs73482557	0.90[EUR][1000 genomes]
rs73482585	0.90[EUR][1000 genomes]
rs73489091	0.86[EUR][1000 genomes]
rs7450771	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7739517	0.80[EUR][1000 genomes]
rs7740873	0.85[EUR][1000 genomes]
rs7741265	0.88[EUR][1000 genomes]
rs7752409	0.82[EUR][1000 genomes]
rs7753355	0.84[EUR][1000 genomes]
rs7756774	0.96[EUR][1000 genomes]
rs7757026	0.95[EUR][1000 genomes]
rs7759464	0.83[EUR][1000 genomes]
rs7766075	0.83[EUR][1000 genomes]
rs7769582	0.84[EUR][1000 genomes]
rs7773794	0.80[EUR][1000 genomes]
rs7775962	0.82[EUR][1000 genomes]
rs9283835	0.86[EUR][1000 genomes]
rs9294868	0.83[EUR][1000 genomes]
rs9294871	0.86[EUR][1000 genomes]
rs9294872	0.90[EUR][1000 genomes]
rs9294874	0.82[EUR][1000 genomes]
rs9294876	0.88[EUR][1000 genomes]
rs9446245	0.82[EUR][1000 genomes]
rs9446248	0.83[EUR][1000 genomes]
rs9446252	0.81[EUR][1000 genomes]
rs9446267	0.88[EUR][1000 genomes]
rs9455094	0.83[EUR][1000 genomes]
rs9455097	0.83[EUR][1000 genomes]
rs9455101	0.83[EUR][1000 genomes]
rs9455113	0.90[EUR][1000 genomes]
rs9455114	0.89[EUR][1000 genomes]
rs9455121	0.90[EUR][1000 genomes]
rs9455130	0.82[EUR][1000 genomes]
rs9455139	0.89[EUR][1000 genomes]
rs9455140	0.89[EUR][1000 genomes]
rs9455144	0.86[EUR][1000 genomes]
rs9455150	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9455151	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9455158	0.88[EUR][1000 genomes]
rs9455160	0.88[EUR][1000 genomes]
rs9455161	0.96[EUR][1000 genomes]
rs9455162	0.95[EUR][1000 genomes]
rs9455163	0.95[EUR][1000 genomes]
rs9455168	0.84[EUR][1000 genomes]
rs9455177	0.83[EUR][1000 genomes]
rs9455181	0.85[EUR][1000 genomes]
rs9455182	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv886146	chr6:71219464-71317480	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71214000-71276000	Weak transcription	Brain Angular Gyrus	brain
2	chr6:71214000-71276000	Weak transcription	Brain Germinal Matrix	brain
3	chr6:71214000-71276000	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:71214600-71276000	Weak transcription	A549	lung
5	chr6:71215000-71273000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:71228600-71276000	Weak transcription	Primary T cells from cord blood	blood
7	chr6:71229600-71276200	Weak transcription	Aorta	Aorta
8	chr6:71231200-71268000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:71236400-71273200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:71237000-71276200	Weak transcription	Left Ventricle	heart
11	chr6:71243400-71276200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:71245400-71270600	Weak transcription	Adipose Nuclei	Adipose
13	chr6:71245400-71276400	Weak transcription	Esophagus	oesophagus
14	chr6:71245400-71276400	Weak transcription	Gastric	stomach
15	chr6:71245600-71276200	Weak transcription	Primary B cells from cord blood	blood
16	chr6:71249200-71268200	Weak transcription	Fetal Lung	lung
17	chr6:71249200-71273000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:71249200-71275800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:71249400-71276200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:71249800-71276200	Weak transcription	Fetal Brain Female	brain
21	chr6:71250000-71273400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:71250000-71274600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:71250000-71276000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:71250000-71276000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:71250400-71276000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:71250600-71276000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:71250600-71276000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:71250600-71276200	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:71251800-71276200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr6:71252000-71268200	Weak transcription	Ovary	ovary
31	chr6:71253400-71276200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:71255200-71268200	Weak transcription	Fetal Stomach	stomach
33	chr6:71255400-71268200	Weak transcription	Fetal Intestine Small	intestine
34	chr6:71257200-71273000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:71257600-71274200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:71257800-71273200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:71258000-71273000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:71258200-71273200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:71258400-71269400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:71258400-71273200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:71260000-71275200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:71260000-71276000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:71260400-71275800	Weak transcription	Fetal Intestine Large	intestine
44	chr6:71260400-71276000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:71260600-71276000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:71260800-71275800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr6:71266200-71270400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:71266600-71268600	Strong transcription	Brain Hippocampus Middle	brain
49	chr6:71266800-71268200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr6:71267200-71273200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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