Variant report

Variant	rs8133565
Chromosome Location	chr21:16336123-16336124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16334780..16336550-chr21:16340369..16342276,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17000535	1.00[AMR][1000 genomes]
rs17004415	1.00[AMR][1000 genomes]
rs2822976	1.00[AMR][1000 genomes]
rs2822979	1.00[AMR][1000 genomes]
rs9978619	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16315600-16338000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr21:16322400-16339200	Weak transcription	Pancreas	Pancrea
3	chr21:16328200-16338800	Weak transcription	HUVEC	blood vessel
4	chr21:16328600-16337600	Weak transcription	Psoas Muscle	Psoas
5	chr21:16328800-16337200	Weak transcription	Left Ventricle	heart
6	chr21:16328800-16339400	Weak transcription	Ovary	ovary
7	chr21:16328800-16341600	Weak transcription	Hela-S3	cervix
8	chr21:16329000-16338000	Weak transcription	Placenta	Placenta
9	chr21:16329600-16338400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr21:16329600-16338800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr21:16330000-16337600	Weak transcription	Fetal Stomach	stomach
12	chr21:16330400-16338600	Weak transcription	NHLF	lung
13	chr21:16330600-16337200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:16331000-16337400	Weak transcription	Osteobl	bone
15	chr21:16331000-16337800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:16331000-16338600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:16331000-16338600	Weak transcription	Brain Hippocampus Middle	brain
18	chr21:16331000-16338800	Weak transcription	Colon Smooth Muscle	Colon
19	chr21:16331400-16339200	Weak transcription	Brain Substantia Nigra	brain
20	chr21:16331400-16339600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr21:16331600-16338000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:16331600-16341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr21:16331800-16340200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr21:16332000-16337600	Weak transcription	Liver	Liver
25	chr21:16332200-16338000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr21:16332800-16337200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr21:16333000-16337000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr21:16333400-16338600	Weak transcription	Small Intestine	intestine
29	chr21:16333800-16337000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr21:16334000-16337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:16334000-16338400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr21:16334200-16336400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr21:16334200-16337000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr21:16334200-16337800	Weak transcription	NHEK	skin
35	chr21:16334200-16338200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr21:16334200-16338400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr21:16334400-16337200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr21:16334400-16338200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:16334400-16338400	Weak transcription	GM12878-XiMat	blood
40	chr21:16334400-16338600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr21:16334400-16339600	Weak transcription	Right Ventricle	heart
42	chr21:16334400-16342400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr21:16334600-16338400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr21:16334600-16338600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr21:16334600-16338600	Weak transcription	Fetal Brain Female	brain
46	chr21:16334600-16339200	Weak transcription	NHDF-Ad	bronchial
47	chr21:16334800-16336400	Strong transcription	Primary B cells from cord blood	blood
48	chr21:16334800-16342400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr21:16335000-16338400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr21:16335000-16340000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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