Variant report

Variant	rs17231059
Chromosome Location	chr21:40298249-40298250
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	chr21:40297548..40299752-chr21:40299789..40301934,2	K562	blood:
2	chr21:40176799..40179085-chr21:40295481..40298439,2	K562	blood:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17213525	1.00[GIH][hapmap]
rs17230940	1.00[ASN][1000 genomes]
rs17816027	1.00[ASN][1000 genomes]
rs2836885	1.00[ASN][1000 genomes]
rs73215562	1.00[ASN][1000 genomes]
rs73215563	1.00[ASN][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	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
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40287000-40305400	Weak transcription	Gastric	stomach
2	chr21:40294200-40298400	Weak transcription	Fetal Kidney	kidney
3	chr21:40296000-40298800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr21:40296000-40301200	Enhancers	Fetal Thymus	thymus
5	chr21:40296600-40298400	Enhancers	Fetal Muscle Trunk	muscle
6	chr21:40296800-40299000	Enhancers	NHDF-Ad	bronchial
7	chr21:40296800-40299800	Enhancers	Fetal Lung	lung
8	chr21:40297000-40298400	Enhancers	Lung	lung
9	chr21:40297200-40298400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:40297200-40298400	Enhancers	Fetal Muscle Leg	muscle
11	chr21:40297200-40298400	Enhancers	Left Ventricle	heart
12	chr21:40297200-40298600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:40297400-40298400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:40297400-40298400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:40297400-40298400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:40297400-40298400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr21:40297400-40298400	Enhancers	Fetal Intestine Small	intestine
18	chr21:40297400-40298400	Enhancers	Ovary	ovary
19	chr21:40297400-40298400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr21:40297400-40298400	Enhancers	Psoas Muscle	Psoas
21	chr21:40297400-40298400	Enhancers	Spleen	Spleen
22	chr21:40297400-40298600	Enhancers	Fetal Intestine Large	intestine
23	chr21:40297400-40298800	Enhancers	Fetal Stomach	stomach
24	chr21:40297400-40298800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr21:40297400-40298800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr21:40297400-40300200	Enhancers	Thymus	Thymus
27	chr21:40297600-40298400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:40297600-40298400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr21:40297600-40298400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr21:40297600-40298400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr21:40297600-40298400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr21:40297600-40298400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:40297600-40298400	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr21:40297600-40298400	Enhancers	Placenta	Placenta
35	chr21:40297600-40298400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr21:40297600-40298400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr21:40297600-40298400	Flanking Active TSS	Hela-S3	cervix
38	chr21:40297600-40298400	Flanking Active TSS	HSMM	muscle
39	chr21:40297600-40298400	Flanking Active TSS	NHEK	skin
40	chr21:40297600-40298400	Flanking Active TSS	Osteobl	bone
41	chr21:40297600-40298600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr21:40297600-40298800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr21:40297600-40298800	Enhancers	Fetal Heart	heart
44	chr21:40297600-40299000	Enhancers	Dnd41	blood
45	chr21:40297800-40298400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr21:40297800-40298400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr21:40297800-40299000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr21:40297800-40301000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr21:40297800-40302400	Weak transcription	Small Intestine	intestine
50	chr21:40297800-40302600	Enhancers	Primary neutrophils fromperipheralblood	blood

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