Variant report

Variant	rs62222824
Chromosome Location	chr21:41004226-41004227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:41002969..41005777-chr21:41016507..41018108,2	MCF-7	breast:
2	chr21:41004099..41006698-chr21:41012872..41015470,2	MCF-7	breast:
3	chr21:40999161..41001792-chr21:41002770..41005621,2	MCF-7	breast:
4	chr21:41004133..41006069-chr21:41006515..41009780,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2837099	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2837102	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4818062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs531581	0.87[ASN][1000 genomes]
rs56208155	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57304019	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv459260	chr21:41000353-41028197	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv587485	chr21:41000353-41028197	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40985600-41008400	Weak transcription	Pancreas	Pancrea
2	chr21:40989600-41004600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr21:40990200-41008200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:40995800-41009000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:40998200-41014800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:40999400-41004800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr21:40999400-41007800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:41000600-41006200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:41001200-41005000	Weak transcription	Placenta	Placenta
10	chr21:41001200-41006400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr21:41001600-41005600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr21:41002000-41006600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr21:41002200-41004600	Enhancers	Fetal Lung	lung
14	chr21:41002200-41005200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr21:41002200-41005200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:41002200-41006600	Enhancers	Stomach Mucosa	stomach
17	chr21:41002400-41004400	Enhancers	Fetal Intestine Small	intestine
18	chr21:41002400-41005200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:41002400-41007000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:41002800-41004600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:41002800-41004600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:41002800-41004600	Weak transcription	NHDF-Ad	bronchial
23	chr21:41002800-41005200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr21:41002800-41005200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr21:41002800-41008000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr21:41002800-41008200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:41002800-41013800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr21:41003000-41004400	Enhancers	Duodenum Mucosa	Duodenum
29	chr21:41003000-41005400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr21:41003200-41004600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:41003200-41004600	Weak transcription	HSMMtube	muscle
32	chr21:41003200-41005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:41003400-41004400	Weak transcription	NH-A	brain
34	chr21:41003400-41004600	Weak transcription	HSMM	muscle
35	chr21:41003400-41004600	Weak transcription	Osteobl	bone
36	chr21:41003400-41005000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:41003600-41006200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr21:41003800-41005000	Enhancers	A549	lung
39	chr21:41003800-41005200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr21:41004000-41005400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr21:41004000-41006600	Enhancers	NHLF	lung
42	chr21:41004200-41005000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr21:41004200-41005000	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr21:41004200-41005200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr21:41004200-41005200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr21:41004200-41005400	Enhancers	HUES64 Cell Line	embryonic stem cell

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