Variant report

Variant	rs8127969
Chromosome Location	chr21:40599126-40599127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40597729..40601273-chr21:40623831..40625559,3	K562	blood:
2	chr21:40553882..40556616-chr21:40598013..40600358,2	K562	blood:
3	chr21:40598000..40600070-chr21:40608365..40610635,2	K562	blood:
4	chr21:40598258..40599808-chr21:40617335..40620196,2	K562	blood:

Variant related genes	Relation type
ENSG00000272991	Chromatin interaction
ENSG00000183527	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv587481	chr21:40598721-40627020	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 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	chr21:40556200-40602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:40563000-40640600	Strong transcription	Placenta	Placenta
3	chr21:40563000-40643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr21:40563400-40653400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:40563600-40653600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr21:40564600-40612600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr21:40565200-40653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr21:40565400-40604200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr21:40565400-40612600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr21:40565400-40653600	Strong transcription	Dnd41	blood
13	chr21:40565600-40615000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr21:40566000-40653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:40566400-40613200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:40569800-40607800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:40571400-40602400	Weak transcription	Fetal Brain Male	brain
18	chr21:40572000-40636800	Weak transcription	Psoas Muscle	Psoas
19	chr21:40573800-40631000	Weak transcription	Small Intestine	intestine
20	chr21:40578000-40607600	Weak transcription	Aorta	Aorta
21	chr21:40578600-40608000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr21:40578800-40606600	Weak transcription	Brain Substantia Nigra	brain
23	chr21:40580400-40606400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr21:40580600-40607600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:40580800-40607200	Weak transcription	Spleen	Spleen
26	chr21:40581400-40635400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr21:40581800-40607200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr21:40582200-40614200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr21:40582600-40602000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr21:40582600-40622000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr21:40582800-40654000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr21:40583600-40606800	Weak transcription	NHLF	lung
33	chr21:40586600-40599200	Weak transcription	Hela-S3	cervix
34	chr21:40587800-40599800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr21:40588000-40599600	Weak transcription	Esophagus	oesophagus
36	chr21:40588000-40601800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr21:40588800-40607800	Weak transcription	Right Ventricle	heart
38	chr21:40590000-40605600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr21:40590200-40600400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr21:40590200-40607200	Weak transcription	NHEK	skin
41	chr21:40590200-40607600	Weak transcription	Brain Hippocampus Middle	brain
42	chr21:40590200-40608000	Weak transcription	Stomach Mucosa	stomach
43	chr21:40590400-40602000	Weak transcription	Fetal Kidney	kidney
44	chr21:40590400-40604600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr21:40590600-40602400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr21:40590600-40607400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr21:40591000-40602200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr21:40591200-40621600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr21:40591200-40622200	Strong transcription	Liver	Liver
50	chr21:40591400-40625200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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