Variant report

Variant	rs7942119
Chromosome Location	chr11:9257848-9257849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

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	0.80[AFR][1000 genomes];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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57052969	1.00[EUR][1000 genomes]
rs57655359	0.92[AFR][1000 genomes];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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59984721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60542289	0.87[AFR][1000 genomes];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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61877904	1.00[ASN][1000 genomes]
rs6486149	1.00[EUR][1000 genomes]
rs7119158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7130037	0.89[AFR][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	1.00[EUR][1000 genomes]
rs73402346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412019	1.00[EUR][1000 genomes]
rs73412032	1.00[EUR][1000 genomes]
rs73412059	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7935573	0.89[AFR][1000 genomes];1.00[AMR][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:7 , 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
7	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9251000-9271600	Weak transcription	Hela-S3	cervix
2	chr11:9251000-9274400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:9251400-9271800	Weak transcription	Gastric	stomach
4	chr11:9252600-9264000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:9252600-9272400	Weak transcription	Spleen	Spleen
6	chr11:9252600-9272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:9252800-9263800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:9253000-9261800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:9253000-9262200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:9253000-9265000	Weak transcription	K562	blood
11	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:9253200-9261200	Weak transcription	Left Ventricle	heart
13	chr11:9253200-9269600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:9253200-9274600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:9253600-9258000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr11:9253600-9268200	Weak transcription	HepG2	liver
17	chr11:9253800-9261400	Weak transcription	Fetal Heart	heart
18	chr11:9253800-9271400	Weak transcription	HSMM	muscle
19	chr11:9254000-9263800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:9254000-9263800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:9254200-9267600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:9254400-9258000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr11:9254400-9258200	Weak transcription	Small Intestine	intestine
24	chr11:9254400-9261400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:9254400-9261800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:9254400-9262600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:9254400-9263800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:9254400-9264200	Weak transcription	HUVEC	blood vessel
29	chr11:9254400-9267600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:9254400-9271600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:9254400-9271800	Weak transcription	Osteobl	bone
32	chr11:9254400-9272400	Weak transcription	Ovary	ovary
33	chr11:9254400-9274600	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:9254400-9280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:9254600-9258000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr11:9254600-9258000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:9254600-9262400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:9254600-9263600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:9254600-9267600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:9254800-9258200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:9255200-9258400	Weak transcription	Primary T cells from cord blood	blood
42	chr11:9255200-9262400	Weak transcription	Brain Angular Gyrus	brain
43	chr11:9255200-9271800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:9255400-9258000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:9255400-9263000	Weak transcription	Brain Anterior Caudate	brain
46	chr11:9255400-9269600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:9256600-9259200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:9256600-9261600	Weak transcription	Fetal Stomach	stomach
49	chr11:9256600-9261800	Weak transcription	Brain Substantia Nigra	brain
50	chr11:9256600-9274400	Weak transcription	Fetal Muscle Leg	muscle

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