Variant report

Variant	rs539047115
Chromosome Location	chr21:40671136-40671137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40664381..40666644-chr21:40671132..40672895,2	K562	blood:
2	chr21:40671119..40673164-chr21:40679954..40681992,2	K562	blood:
3	chr21:40660582..40664374-chr21:40667695..40671151,4	MCF-7	breast:
4	chr21:40581211..40583569-chr21:40670765..40672444,2	K562	blood:
5	chr21:40670757..40673579-chr21:40719041..40722481,3	K562	blood:

Variant related genes	Relation type
ENSG00000205581	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056683	chr21:40570023-40673210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv3429298	chr21:40670131-40688774	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40641400-40683800	Strong transcription	Placenta	Placenta
2	chr21:40643800-40684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:40646600-40683400	Weak transcription	Fetal Brain Male	brain
4	chr21:40650200-40671600	Weak transcription	Aorta	Aorta
5	chr21:40651400-40671600	Weak transcription	Pancreas	Pancrea
6	chr21:40655000-40676800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:40655000-40683000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr21:40655400-40683200	Strong transcription	Dnd41	blood
9	chr21:40655600-40671800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr21:40655800-40671800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr21:40655800-40672200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:40655800-40672800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr21:40655800-40673800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr21:40655800-40677400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr21:40655800-40677400	Strong transcription	Fetal Thymus	thymus
16	chr21:40656200-40672400	Strong transcription	Liver	Liver
17	chr21:40656200-40672600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:40656200-40674200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr21:40656400-40675400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr21:40656400-40676600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr21:40656400-40676800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:40656400-40683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:40656600-40671600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr21:40658800-40672000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr21:40658800-40672000	Strong transcription	Adipose Nuclei	Adipose
26	chr21:40659000-40673600	Strong transcription	Hela-S3	cervix
27	chr21:40659200-40674600	Strong transcription	K562	blood
28	chr21:40659600-40671800	Strong transcription	Fetal Muscle Leg	muscle
29	chr21:40659600-40676800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:40659600-40676800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr21:40659800-40672800	Strong transcription	NH-A	brain
32	chr21:40661800-40683400	Weak transcription	Stomach Mucosa	stomach
33	chr21:40662000-40672200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr21:40662400-40675400	Strong transcription	Osteobl	bone
35	chr21:40662600-40671400	Strong transcription	HMEC	breast
36	chr21:40662600-40673800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr21:40663000-40672600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr21:40663000-40672800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr21:40663200-40672000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr21:40663600-40683400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr21:40663800-40671200	Weak transcription	Fetal Heart	heart
42	chr21:40663800-40671600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr21:40663800-40672000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:40663800-40672000	Weak transcription	Right Ventricle	heart
45	chr21:40663800-40672600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr21:40663800-40673000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr21:40663800-40676600	Strong transcription	Left Ventricle	heart
48	chr21:40664000-40672000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr21:40664000-40672200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr21:40664000-40684200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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