Variant report

Variant	rs561172839
Chromosome Location	chr11:65214349-65214350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65042714..65044307-chr11:65213952..65215856,2	K562	blood:
2	chr11:65178877..65218546-chr11:65218612..65286191,1014	K562	blood:
3	chr1:17230936..17232850-chr11:65213423..65216016,2	K562	blood:

Variant related genes	Relation type
ENSG00000270526	Chromatin interaction
ENSG00000173727	Chromatin interaction
ENSG00000272426	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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
22	esv32703	chr11:65213860-65222026	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65198000-65216000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:65202600-65214400	Genic enhancers	A549	lung
3	chr11:65205200-65214400	Genic enhancers	Placenta	Placenta
4	chr11:65205600-65214800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:65205600-65217600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:65206600-65214400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:65206600-65222000	Weak transcription	Fetal Kidney	kidney
8	chr11:65207800-65214600	Genic enhancers	NHLF	lung
9	chr11:65208200-65214600	Genic enhancers	Adipose Nuclei	Adipose
10	chr11:65208600-65214400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:65209000-65217400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:65209200-65214400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:65209200-65214400	Genic enhancers	Fetal Muscle Leg	muscle
14	chr11:65209400-65214400	Strong transcription	Thymus	Thymus
15	chr11:65209400-65214400	Genic enhancers	Spleen	Spleen
16	chr11:65209400-65214600	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr11:65209600-65214600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:65209600-65214600	Genic enhancers	NHDF-Ad	bronchial
19	chr11:65210000-65222000	Weak transcription	Brain Angular Gyrus	brain
20	chr11:65210000-65222200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:65210200-65214600	Strong transcription	Fetal Intestine Large	intestine
22	chr11:65210400-65216200	Genic enhancers	Muscle Satellite Cultured Cells	--
23	chr11:65210800-65214800	Strong transcription	Fetal Intestine Small	intestine
24	chr11:65210800-65222000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:65211000-65214600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:65211000-65214600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:65211200-65220000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:65211400-65214600	Strong transcription	Left Ventricle	heart
29	chr11:65211400-65222000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:65211600-65214400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:65211600-65214400	Strong transcription	Brain Cingulate Gyrus	brain
32	chr11:65211600-65214600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:65211600-65214600	Strong transcription	Fetal Stomach	stomach
34	chr11:65211600-65214600	Strong transcription	Ovary	ovary
35	chr11:65211600-65214600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr11:65211600-65214600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:65211600-65221800	Weak transcription	HUVEC	blood vessel
38	chr11:65212000-65214400	Strong transcription	Colonic Mucosa	Colon
39	chr11:65212200-65214600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:65212200-65214600	Strong transcription	Right Ventricle	heart
41	chr11:65212200-65214800	Strong transcription	Brain Hippocampus Middle	brain
42	chr11:65212200-65215800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:65212200-65221800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:65212200-65222000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:65212200-65222200	Weak transcription	Liver	Liver
46	chr11:65212400-65214400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:65212400-65214400	Strong transcription	NHEK	skin
48	chr11:65212400-65219800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr11:65212400-65220000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:65212400-65222000	Weak transcription	Primary hematopoietic stem cells	blood

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