Variant report

Variant	rs59984721
Chromosome Location	chr11:9235251-9235252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10743100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10743102	1.00[EUR][1000 genomes]
rs10743103	1.00[EUR][1000 genomes]
rs10840197	1.00[EUR][1000 genomes]
rs10840198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042254	1.00[EUR][1000 genomes]
rs12225143	1.00[EUR][1000 genomes]
rs1809855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2016375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4243946	1.00[EUR][1000 genomes]
rs4331093	1.00[EUR][1000 genomes]
rs4372456	1.00[AMR][1000 genomes]
rs4414214	1.00[EUR][1000 genomes]
rs4420271	1.00[EUR][1000 genomes]
rs4450172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4589301	1.00[EUR][1000 genomes]
rs4601780	1.00[EUR][1000 genomes]
rs4625467	1.00[EUR][1000 genomes]
rs4644643	1.00[EUR][1000 genomes]
rs4910448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56306422	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57052969	1.00[EUR][1000 genomes]
rs57655359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58309260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58361373	1.00[EUR][1000 genomes]
rs58795427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59398820	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59400072	1.00[EUR][1000 genomes]
rs59618374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60542289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60602151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60731772	1.00[EUR][1000 genomes]
rs60960132	1.00[EUR][1000 genomes]
rs61217844	1.00[EUR][1000 genomes]
rs61379640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61409427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6486149	1.00[EUR][1000 genomes]
rs7119158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119887	1.00[EUR][1000 genomes]
rs73402319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402344	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73402346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402362	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404303	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404305	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412019	1.00[EUR][1000 genomes]
rs73412032	1.00[EUR][1000 genomes]
rs73412059	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416044	1.00[EUR][1000 genomes]
rs73416046	1.00[EUR][1000 genomes]
rs73416057	1.00[EUR][1000 genomes]
rs7931491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7932136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7932954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7935518	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7935573	1.00[AMR][1000 genomes]
rs7942119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7944130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7944713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7948651	1.00[AMR][1000 genomes];1.00[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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS 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	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
2	chr11:9202600-9251200	Weak transcription	Small Intestine	intestine
3	chr11:9225400-9236800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:9225800-9236200	Weak transcription	Thymus	Thymus
5	chr11:9225800-9237800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:9225800-9237800	Weak transcription	Gastric	stomach
7	chr11:9226000-9236400	Weak transcription	Lung	lung
8	chr11:9226000-9236800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:9226000-9241200	Weak transcription	Aorta	Aorta
10	chr11:9226000-9252000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:9226000-9252800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:9226200-9236200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:9227200-9236600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:9227400-9236200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:9227400-9236400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:9227400-9250400	Weak transcription	Fetal Stomach	stomach
17	chr11:9227600-9236400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:9227600-9250600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:9228400-9236400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:9228400-9236600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:9228400-9236600	Weak transcription	HUVEC	blood vessel
22	chr11:9229200-9236400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr11:9229800-9237600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr11:9230400-9253400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:9230600-9235800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:9230800-9236600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:9231000-9235600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:9231000-9235600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:9231000-9236200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:9231000-9236200	Weak transcription	Right Atrium	heart
31	chr11:9231000-9252200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:9231200-9235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:9231200-9235800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:9231200-9235800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:9231200-9236400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:9231200-9236400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:9231200-9236400	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:9231200-9241200	Weak transcription	Adipose Nuclei	Adipose
39	chr11:9231400-9235600	Weak transcription	Right Ventricle	heart
40	chr11:9231400-9250600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:9232200-9235800	Weak transcription	Brain Angular Gyrus	brain
42	chr11:9232400-9236400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:9232400-9236400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:9232400-9236400	Weak transcription	Spleen	Spleen
45	chr11:9232600-9235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:9232600-9235400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:9232600-9236000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:9232600-9236200	Weak transcription	Brain Substantia Nigra	brain
49	chr11:9232600-9236200	Weak transcription	Left Ventricle	heart
50	chr11:9232600-9236400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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