Variant report

Variant	rs77471089
Chromosome Location	chr21:40668969-40668970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40668296..40669992-chr21:40678058..40680619,2	K562	blood:
2	chr1:13882636..13884663-chr21:40666382..40669101,2	K562	blood:
3	chr21:40668014..40669940-chr21:40681557..40684495,2	K562	blood:
4	chr21:40660582..40664374-chr21:40667695..40671151,4	MCF-7	breast:
5	chr21:40666937..40669991-chr21:40672116..40674107,3	MCF-7	breast:

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	nsv962678	chr21:40668786-40670410	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region miRNA target site	n/a	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	chr21:40655000-40669400	Strong transcription	NHDF-Ad	bronchial
7	chr21:40655000-40676800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:40655000-40683000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr21:40655400-40683200	Strong transcription	Dnd41	blood
10	chr21:40655600-40671800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr21:40655800-40671800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr21:40655800-40672200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:40655800-40672800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr21:40655800-40673800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr21:40655800-40677400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr21:40655800-40677400	Strong transcription	Fetal Thymus	thymus
17	chr21:40656000-40669400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr21:40656200-40672400	Strong transcription	Liver	Liver
19	chr21:40656200-40672600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr21:40656200-40674200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr21:40656400-40670200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr21:40656400-40675400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:40656400-40676600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr21:40656400-40676800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr21:40656400-40683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:40656600-40671600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr21:40658800-40669000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr21:40658800-40670600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr21:40658800-40672000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr21:40658800-40672000	Strong transcription	Adipose Nuclei	Adipose
31	chr21:40659000-40673600	Strong transcription	Hela-S3	cervix
32	chr21:40659200-40674600	Strong transcription	K562	blood
33	chr21:40659400-40669800	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr21:40659600-40670800	Strong transcription	HepG2	liver
35	chr21:40659600-40671800	Strong transcription	Fetal Muscle Leg	muscle
36	chr21:40659600-40676800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:40659600-40676800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr21:40659800-40669000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr21:40659800-40669400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:40659800-40672800	Strong transcription	NH-A	brain
41	chr21:40660000-40669400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr21:40661200-40669000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr21:40661400-40669000	Weak transcription	Brain Angular Gyrus	brain
44	chr21:40661800-40683400	Weak transcription	Stomach Mucosa	stomach
45	chr21:40662000-40672200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr21:40662200-40669000	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr21:40662200-40670000	Strong transcription	Thymus	Thymus
48	chr21:40662400-40669000	Strong transcription	Fetal Intestine Large	intestine
49	chr21:40662400-40675400	Strong transcription	Osteobl	bone
50	chr21:40662600-40669000	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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