Variant report

Variant	rs34512931
Chromosome Location	chr11:65224560-65224561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65178877..65218546-chr11:65218612..65286191,1014	K562	blood:
2	chr11:65222766..65224621-chr11:65305015..65306605,2	K562	blood:
3	chr11:65223608..65225757-chr11:65290986..65293226,3	K562	blood:
4	chr11:65222762..65225438-chr11:65341182..65342717,2	K562	blood:

Variant related genes	Relation type
ENSG00000142186	Chromatin interaction
ENSG00000245532	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10896004	0.86[ASN][1000 genomes]
rs10896005	0.84[ASN][1000 genomes]
rs10896006	0.84[ASN][1000 genomes]
rs10896008	0.82[ASN][1000 genomes]
rs10896009	0.82[ASN][1000 genomes]
rs10896010	0.82[ASN][1000 genomes]
rs11227196	0.84[ASN][1000 genomes]
rs11227197	0.84[ASN][1000 genomes]
rs11227198	0.82[ASN][1000 genomes]
rs11227199	0.84[ASN][1000 genomes]
rs11227201	0.82[ASN][1000 genomes]
rs11227202	0.82[ASN][1000 genomes]
rs11227205	0.81[ASN][1000 genomes]
rs12269965	0.84[ASN][1000 genomes]
rs12269975	0.84[ASN][1000 genomes]
rs12294910	0.84[ASN][1000 genomes]
rs12360896	0.83[ASN][1000 genomes]
rs12364730	0.84[ASN][1000 genomes]
rs12788055	0.82[ASN][1000 genomes]
rs12808303	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17146964	0.82[ASN][1000 genomes]
rs2508710	0.84[ASN][1000 genomes]
rs34527830	0.84[ASN][1000 genomes]
rs34582634	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34877911	0.84[ASN][1000 genomes]
rs35292734	0.84[ASN][1000 genomes]
rs35469818	0.84[ASN][1000 genomes]
rs35826299	0.82[ASN][1000 genomes]
rs7128776	0.82[ASN][1000 genomes]
rs7931615	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
3	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
4	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
7	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
8	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
9	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	833 gene(s)	inside rSNPs	diseases
10	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
11	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
12	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
13	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
14	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
15	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
16	nsv541072	chr11:65171202-65313799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	946 gene(s)	inside rSNPs	diseases
17	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
18	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
19	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
20	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
21	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65220400-65227000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:65221800-65225400	Active TSS	GM12878-XiMat	blood
3	chr11:65222200-65233600	Weak transcription	Hela-S3	cervix
4	chr11:65223000-65227000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:65223200-65224600	Weak transcription	Placenta	Placenta
6	chr11:65223200-65224800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:65223200-65225000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:65223200-65225000	Enhancers	Adipose Nuclei	Adipose
9	chr11:65223200-65225400	Weak transcription	HSMM	muscle
10	chr11:65223200-65225600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:65223200-65225600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:65223200-65228000	Weak transcription	Liver	Liver
13	chr11:65223200-65238000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:65223200-65238000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:65223200-65238200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:65223200-65238200	Weak transcription	Thymus	Thymus
17	chr11:65223200-65238800	Weak transcription	Brain Angular Gyrus	brain
18	chr11:65223200-65244000	Weak transcription	Fetal Kidney	kidney
19	chr11:65223600-65224600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:65223600-65230800	Weak transcription	Fetal Stomach	stomach
21	chr11:65223600-65238800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:65223800-65224600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:65223800-65225600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:65223800-65226800	Weak transcription	Spleen	Spleen
25	chr11:65223800-65227200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:65223800-65232200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:65223800-65233400	Weak transcription	Fetal Brain Female	brain
28	chr11:65223800-65233400	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:65223800-65235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:65223800-65238200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:65224000-65225000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:65224000-65236400	Weak transcription	Right Ventricle	heart
33	chr11:65224000-65239200	Weak transcription	Brain Germinal Matrix	brain
34	chr11:65224200-65225400	Weak transcription	HepG2	liver
35	chr11:65224200-65226800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:65224200-65227200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:65224200-65236400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:65224200-65238000	Weak transcription	Osteobl	bone
39	chr11:65224200-65238800	Weak transcription	Brain Substantia Nigra	brain
40	chr11:65224400-65224600	Active TSS	K562	blood
41	chr11:65224400-65225600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:65224400-65225800	Enhancers	NHDF-Ad	bronchial
43	chr11:65224400-65226600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:65224400-65226800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:65224400-65235000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:65224400-65238200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:65224400-65238800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:65224400-65238800	Weak transcription	Brain Anterior Caudate	brain
49	chr11:65224400-65239000	Weak transcription	Brain Hippocampus Middle	brain

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