Variant report

Variant	rs67616239
Chromosome Location	chr11:8158086-8158087
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11820921	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11825426	0.94[ASN][1000 genomes]
rs11825474	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11826236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12098876	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1528128	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528133	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936374	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16936453	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16936464	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2884897	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3812761	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758043	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4758291	0.84[ASN][1000 genomes]
rs4758292	0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4758293	0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4758296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4758297	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4758298	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4758299	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4758301	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55734038	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55800727	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55990541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56069405	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56151106	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56296484	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56359962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56391723	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58468974	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59196234	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59304961	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59649611	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59779009	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60126747	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66638701	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66675297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66849637	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66904272	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67163850	0.94[ASN][1000 genomes]
rs67311429	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67381251	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67538440	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67646462	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67651384	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67738066	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67800627	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67807225	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67923068	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs68084728	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68154852	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7116667	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72849307	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1048537	chr11:8137353-8196203	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv896981	chr11:8152080-8227964	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1054339	chr11:8153582-8263173	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8126400-8160600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:8128800-8162600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:8132400-8159600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:8132600-8160800	Weak transcription	Esophagus	oesophagus
5	chr11:8132600-8172200	Weak transcription	Pancreas	Pancrea
6	chr11:8133600-8162800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:8148400-8169200	Weak transcription	Brain Anterior Caudate	brain
8	chr11:8148800-8170200	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:8149400-8162200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:8149800-8179600	Weak transcription	Brain Substantia Nigra	brain
11	chr11:8150800-8162600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:8152200-8162400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr11:8155200-8159400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:8155200-8166800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:8155400-8160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:8155800-8163600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:8156000-8189800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:8156200-8160800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:8156400-8159200	Weak transcription	HMEC	breast
20	chr11:8156400-8163200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:8156600-8159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:8156600-8163600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:8157200-8158200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:8157200-8158200	Strong transcription	Brain Hippocampus Middle	brain
25	chr11:8157200-8159400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:8157200-8160800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:8157200-8160800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:8157200-8161400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:8157200-8162000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr11:8157400-8158400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr11:8157400-8159200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:8157400-8160800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:8157600-8158200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr11:8157600-8158200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:8157600-8158200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:8157600-8158200	ZNF genes & repeats	Aorta	Aorta
37	chr11:8157600-8158200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:8157600-8158200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr11:8157600-8158400	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr11:8157600-8158400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:8157600-8158400	Strong transcription	Brain Angular Gyrus	brain
42	chr11:8157800-8158200	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr11:8157800-8158200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:8157800-8158200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr11:8157800-8158400	Strong transcription	Brain Cingulate Gyrus	brain
46	chr11:8157800-8158800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:8157800-8160800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:8157800-8162400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:8157800-8162400	Weak transcription	Ovary	ovary
50	chr11:8158000-8159600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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