Variant report

Variant	rs574819930
Chromosome Location	chr11:57533644-57533645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57533309..57536452-chr11:57541142..57544188,3	K562	blood:
2	chr11:57507427..57512619-chr11:57528805..57534217,7	K562	blood:
3	chr11:57528231..57532221-chr11:57532591..57536527,5	MCF-7	breast:
4	chr11:57529135..57533999-chr11:57544009..57550841,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000211450	Chromatin interaction
ENSG00000198561	Chromatin interaction
ENSG00000254732	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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' 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	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv327	chr11:57532641-57550746	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57528800-57534200	Active TSS	Right Atrium	heart
2	chr11:57530400-57545800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:57531400-57543200	Weak transcription	Primary B cells from cord blood	blood
4	chr11:57531800-57534600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:57531800-57538200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:57531800-57539800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:57531800-57543200	Weak transcription	Thymus	Thymus
8	chr11:57532000-57534200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:57532200-57534200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:57532200-57535200	Enhancers	Brain Substantia Nigra	brain
11	chr11:57532400-57534000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:57532400-57534200	Enhancers	Ovary	ovary
13	chr11:57532400-57534600	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr11:57532400-57535200	Active TSS	GM12878-XiMat	blood
15	chr11:57532600-57534200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:57532600-57534200	Enhancers	Fetal Heart	heart
17	chr11:57532600-57538200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:57532800-57534000	Weak transcription	A549	lung
19	chr11:57532800-57534200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:57532800-57534200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr11:57532800-57534200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr11:57532800-57534200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:57532800-57535000	Enhancers	Brain Anterior Caudate	brain
24	chr11:57532800-57535200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:57532800-57535200	Enhancers	Brain Hippocampus Middle	brain
26	chr11:57532800-57539800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:57532800-57539800	Weak transcription	NHDF-Ad	bronchial
28	chr11:57532800-57541800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:57532800-57543200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:57533000-57533800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:57533000-57533800	Enhancers	Osteobl	bone
32	chr11:57533000-57534000	Enhancers	HUVEC	blood vessel
33	chr11:57533000-57535200	Enhancers	Liver	Liver
34	chr11:57533000-57535400	Enhancers	Small Intestine	intestine
35	chr11:57533000-57536800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:57533000-57538000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr11:57533000-57539600	Weak transcription	HMEC	breast
38	chr11:57533000-57539800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:57533000-57539800	Weak transcription	NH-A	brain
40	chr11:57533200-57533800	Active TSS	Adipose Nuclei	Adipose
41	chr11:57533200-57533800	Active TSS	Brain Angular Gyrus	brain
42	chr11:57533200-57533800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr11:57533200-57534200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:57533200-57534200	Enhancers	Fetal Lung	lung
45	chr11:57533200-57534200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr11:57533200-57534200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr11:57533200-57534400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:57533200-57534400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr11:57533200-57534400	Flanking Active TSS	Fetal Brain Female	brain
50	chr11:57533200-57534800	Weak transcription	HSMM	muscle

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