Variant report

Variant	rs491781
Chromosome Location	chr11:77099564-77099565
allele	A/T
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:51)

rs_ID	r²[population]
rs10793248	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1225479	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2602463	0.81[ASN][1000 genomes]
rs2725812	0.81[EUR][1000 genomes]
rs2729747	0.80[ASN][1000 genomes]
rs2729771	0.81[ASN][1000 genomes]
rs2853097	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3015984	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3015989	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3015991	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3015993	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3019240	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3019258	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs473012	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs476925	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs478134	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs478475	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs482243	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs487322	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs489038	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs492527	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4944158	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4945169	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs495889	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs497172	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs497946	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs499880	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs500731	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs514191	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs517511	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs538670	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs539906	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs556696	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs561153	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs562939	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs568309	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs575662	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs576079	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs576997	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs584909	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs599437	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs605910	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs614775	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs618012	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs628325	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs635291	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs639857	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs667331	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs683497	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs688212	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs98703	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77046800-77121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:77055200-77117600	Weak transcription	Pancreas	Pancrea
3	chr11:77064200-77102800	Weak transcription	Brain Substantia Nigra	brain
4	chr11:77067200-77111800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:77070000-77102000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:77082400-77104200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:77084000-77111400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:77084200-77107000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:77084400-77103600	Weak transcription	Fetal Kidney	kidney
10	chr11:77084600-77121200	Weak transcription	Thymus	Thymus
11	chr11:77086400-77108000	Weak transcription	Brain Anterior Caudate	brain
12	chr11:77086600-77102200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:77086600-77120000	Weak transcription	Spleen	Spleen
14	chr11:77087200-77106800	Weak transcription	NHEK	skin
15	chr11:77089400-77101200	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:77090800-77103000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:77090800-77103200	Weak transcription	Liver	Liver
18	chr11:77090800-77104200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr11:77090800-77104400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:77090800-77106400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:77090800-77111200	Weak transcription	HMEC	breast
22	chr11:77091000-77103600	Weak transcription	Aorta	Aorta
23	chr11:77091000-77103800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:77091000-77104000	Weak transcription	Fetal Brain Male	brain
25	chr11:77091000-77106800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:77091000-77108200	Weak transcription	Brain Angular Gyrus	brain
27	chr11:77091000-77112000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:77091000-77113400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:77091000-77117000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:77091000-77117600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:77091200-77099800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:77091800-77106800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:77092000-77106800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:77092400-77103400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:77093600-77102000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:77093600-77102000	Weak transcription	HSMM	muscle
37	chr11:77093600-77104000	Weak transcription	Osteobl	bone
38	chr11:77093600-77117800	Weak transcription	NH-A	brain
39	chr11:77094000-77104400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:77094000-77118400	Weak transcription	NHLF	lung
41	chr11:77094200-77100200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:77094200-77102000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:77094200-77103400	Weak transcription	Adipose Nuclei	Adipose
44	chr11:77094200-77111800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:77094200-77118200	Weak transcription	NHDF-Ad	bronchial
46	chr11:77094200-77118400	Weak transcription	Colonic Mucosa	Colon
47	chr11:77094400-77104400	Weak transcription	Small Intestine	intestine
48	chr11:77095000-77101200	Weak transcription	Fetal Intestine Small	intestine
49	chr11:77095400-77101200	Weak transcription	Fetal Intestine Large	intestine
50	chr11:77095400-77101800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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