Variant report

Variant	rs17230940
Chromosome Location	chr21:40219376-40219377
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40218988..40223370-chr21:40223471..40227627,7	K562	blood:
2	chr21:40210912..40213065-chr21:40219265..40221347,3	K562	blood:
3	chr21:40176403..40178101-chr21:40218059..40219647,2	K562	blood:
4	chr21:40176601..40179515-chr21:40218059..40219886,2	K562	blood:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17231059	1.00[ASN][1000 genomes]
rs17816027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
2	chr21:40203800-40225200	Weak transcription	Psoas Muscle	Psoas
3	chr21:40215800-40219400	Weak transcription	NH-A	brain
4	chr21:40216400-40219400	Weak transcription	HSMMtube	muscle
5	chr21:40216400-40221200	Weak transcription	HUVEC	blood vessel
6	chr21:40216600-40219400	Weak transcription	NHDF-Ad	bronchial
7	chr21:40219000-40219400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:40219000-40219400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:40219000-40219800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr21:40219000-40220400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr21:40219000-40220400	Enhancers	NHEK	skin
12	chr21:40219200-40219400	Enhancers	Esophagus	oesophagus
13	chr21:40219200-40219400	Enhancers	Hela-S3	cervix
14	chr21:40219200-40219800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr21:40219200-40219800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr21:40219200-40219800	Enhancers	Right Atrium	heart
17	chr21:40219200-40219800	Enhancers	Osteobl	bone
18	chr21:40219200-40220000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:40219200-40220000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr21:40219200-40220000	Enhancers	Placenta	Placenta
21	chr21:40219200-40220000	Enhancers	HMEC	breast
22	chr21:40219200-40220600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:40219200-40220600	Enhancers	Fetal Muscle Trunk	muscle
24	chr21:40219200-40220800	Enhancers	Liver	Liver
25	chr21:40219200-40221200	Enhancers	Fetal Stomach	stomach
26	chr21:40219200-40221200	Enhancers	Left Ventricle	heart
27	chr21:40219200-40222200	Enhancers	K562	blood
28	chr21:40219200-40222400	Enhancers	Fetal Heart	heart
29	chr21:40219200-40222400	Enhancers	Fetal Lung	lung
30	chr21:40219200-40222400	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links