Variant report

Variant	rs533730571
Chromosome Location	chr11:46354832-46354833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46334610..46337424-chr11:46352781..46354879,2	K562	blood:
2	chr11:46352485..46355160-chr11:46382549..46384847,2	MCF-7	breast:
3	chr11:46328323..46330556-chr11:46354487..46356134,2	K562	blood:

Variant related genes	Relation type
ENSG00000149091	Chromatin interaction
ENSG00000157613	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS 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	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	esv3345003	chr11:46353526-46356074	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46349800-46357400	Weak transcription	Hela-S3	cervix
2	chr11:46353200-46356000	Enhancers	Spleen	Spleen
3	chr11:46353600-46355800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:46353800-46355400	Enhancers	Fetal Heart	heart
5	chr11:46354000-46355000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:46354000-46355000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
7	chr11:46354000-46355200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:46354000-46355200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr11:46354000-46355200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:46354000-46355200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:46354000-46355200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:46354000-46355200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:46354000-46355200	Bivalent Enhancer	Liver	Liver
14	chr11:46354000-46355200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
15	chr11:46354000-46355200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
16	chr11:46354000-46355200	Active TSS	Ovary	ovary
17	chr11:46354000-46355200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
18	chr11:46354000-46355200	Bivalent/Poised TSS	HepG2	liver
19	chr11:46354000-46355400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr11:46354000-46355400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:46354000-46355400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr11:46354000-46355400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:46354000-46355400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:46354000-46355400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr11:46354000-46355400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:46354000-46355400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:46354000-46355400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr11:46354000-46355400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
29	chr11:46354000-46355600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:46354000-46356400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr11:46354200-46355000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:46354200-46355000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr11:46354200-46355000	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr11:46354200-46355000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:46354200-46355000	Active TSS	Brain Substantia Nigra	brain
36	chr11:46354200-46355000	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr11:46354200-46355000	Flanking Active TSS	Pancreas	Pancrea
38	chr11:46354200-46355000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
39	chr11:46354200-46355000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
40	chr11:46354200-46355000	Bivalent/Poised TSS	Osteobl	bone
41	chr11:46354200-46355200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr11:46354200-46355200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:46354200-46355200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:46354200-46355200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:46354200-46355200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr11:46354200-46355200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:46354200-46355200	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr11:46354200-46355200	Active TSS	Primary T cells from cord blood	blood
49	chr11:46354200-46355200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr11:46354200-46355200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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