Variant report

Variant	rs530
Chromosome Location	chr21:40195277-40195278
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40193537..40196010-chr21:40225779..40228010,2	MCF-7	breast:
2	chr21:40193849..40196646-chr21:40227112..40228777,2	K562	blood:
3	chr21:40193156..40195802-chr21:40196323..40199129,2	K562	blood:
4	chr21:40194153..40196064-chr21:40203698..40205702,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1051425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs711	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7279430	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs877370	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40180200-40198400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr21:40181800-40197000	Strong transcription	Fetal Thymus	thymus
3	chr21:40182000-40196600	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr21:40183000-40196600	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr21:40183600-40196800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:40183800-40196800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:40184000-40196800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr21:40184400-40196800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr21:40184600-40196000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr21:40184800-40196600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr21:40184800-40196800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr21:40185000-40196600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr21:40185000-40196600	Strong transcription	K562	blood
14	chr21:40185000-40197000	Strong transcription	Thymus	Thymus
15	chr21:40185200-40196600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr21:40186000-40197600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr21:40186200-40195800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
18	chr21:40186200-40196400	Strong transcription	Primary B cells from cord blood	blood
19	chr21:40186200-40197000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr21:40186600-40196600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
21	chr21:40186600-40196800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr21:40186800-40196600	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr21:40186800-40196600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr21:40186800-40196800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr21:40187000-40196800	Genic enhancers	Rectal Mucosa Donor 31	rectum
26	chr21:40187000-40197400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr21:40187000-40197400	Strong transcription	Dnd41	blood
28	chr21:40188200-40196800	Strong transcription	Primary T cells from cord blood	blood
29	chr21:40188400-40195800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr21:40188400-40196200	Genic enhancers	Duodenum Mucosa	Duodenum
31	chr21:40188400-40196600	Strong transcription	Pancreas	Pancrea
32	chr21:40188800-40196200	Genic enhancers	Rectal Mucosa Donor 29	rectum
33	chr21:40189400-40196000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr21:40189400-40196000	Genic enhancers	Placenta	Placenta
35	chr21:40189400-40196200	Genic enhancers	NHLF	lung
36	chr21:40189800-40196800	Genic enhancers	Liver	Liver
37	chr21:40190400-40195800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:40190400-40197600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr21:40191200-40196200	Genic enhancers	HepG2	liver
40	chr21:40191200-40197200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr21:40191400-40197400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr21:40191400-40197600	Genic enhancers	Fetal Lung	lung
43	chr21:40191600-40196600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr21:40192000-40197200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr21:40192200-40196800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr21:40192200-40196800	Strong transcription	Osteobl	bone
47	chr21:40192400-40195600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr21:40192400-40196600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr21:40192400-40196800	Genic enhancers	Adipose Nuclei	Adipose
50	chr21:40192400-40197000	Strong transcription	NH-A	brain

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