Variant report

Variant	rs71489912
Chromosome Location	chr11:108559553-108559554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10732846	0.93[EUR][1000 genomes]
rs12787498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12788182	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12799569	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807367	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466502	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531470	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947928	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947929	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061680	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126570	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615721	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615734	0.85[EUR][1000 genomes]
rs2615735	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615738	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2615742	0.82[EUR][1000 genomes]
rs2726876	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726880	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726887	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726891	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34746018	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35234597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35396330	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3951111	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754342	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6589029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68161639	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7124142	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129535	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489921	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489923	0.88[EUR][1000 genomes]
rs73005544	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931638	0.86[AMR][1000 genomes];0.97[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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108536600-108578400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:108537800-108560200	Weak transcription	Small Intestine	intestine
3	chr11:108538200-108574800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:108540400-108560600	Weak transcription	Pancreas	Pancrea
5	chr11:108541400-108562800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:108541400-108578200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:108543600-108575200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:108544200-108569000	Weak transcription	Fetal Heart	heart
9	chr11:108546800-108561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:108546800-108569400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:108548200-108560400	Weak transcription	Spleen	Spleen
12	chr11:108548200-108560600	Weak transcription	Esophagus	oesophagus
13	chr11:108548200-108561000	Weak transcription	Lung	lung
14	chr11:108548200-108561200	Weak transcription	Gastric	stomach
15	chr11:108548200-108562800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:108548200-108577600	Weak transcription	Colonic Mucosa	Colon
17	chr11:108548400-108559800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:108548400-108577200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:108548600-108559600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:108548600-108560000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:108548600-108570200	Weak transcription	Fetal Kidney	kidney
22	chr11:108548600-108577400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:108548800-108559800	Weak transcription	Brain Anterior Caudate	brain
24	chr11:108548800-108559800	Weak transcription	HSMMtube	muscle
25	chr11:108548800-108561200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:108548800-108561200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:108548800-108564200	Weak transcription	Hela-S3	cervix
28	chr11:108548800-108577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:108549000-108565800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:108549200-108577400	Weak transcription	Right Ventricle	heart
31	chr11:108550400-108560000	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:108550400-108565200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:108550600-108559600	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:108550800-108559600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:108550800-108559600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:108550800-108561200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:108550800-108564200	Weak transcription	Fetal Brain Male	brain
38	chr11:108551000-108559600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:108551000-108559600	Weak transcription	K562	blood
40	chr11:108551200-108559600	Weak transcription	Left Ventricle	heart
41	chr11:108551200-108559600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:108551200-108559800	Weak transcription	Brain Angular Gyrus	brain
43	chr11:108551200-108559800	Weak transcription	Placenta	Placenta
44	chr11:108551200-108561000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:108551200-108561000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:108552400-108564200	Weak transcription	HMEC	breast
47	chr11:108554000-108559600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:108554000-108559800	Weak transcription	Fetal Thymus	thymus
49	chr11:108554000-108560600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:108554400-108561000	Weak transcription	Thymus	Thymus

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