Variant report

Variant	rs61018306
Chromosome Location	chr21:40361556-40361557
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	chr21:40282115..40285286-chr21:40361301..40363666,3	MCF-7	breast:
2	21:40348344-40365490..21:40748850-40752541	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000182093	Chromatin interaction
ENSG00000227406	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11088460	1.00[EUR][1000 genomes]
rs11088461	1.00[EUR][1000 genomes]
rs2410071	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2410072	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2410074	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2410075	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2836809	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836810	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59075807	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs732339	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs732340	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73906720	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8126897	1.00[EUR][1000 genomes]
rs8134059	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs881558	1.00[EUR][1000 genomes]
rs9636952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs973192	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs973193	1.00[EUR][1000 genomes];0.98[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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40352400-40370000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr21:40354600-40364600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:40356000-40369400	Enhancers	Left Ventricle	heart
4	chr21:40356200-40361600	Enhancers	Fetal Stomach	stomach
5	chr21:40356800-40362800	Enhancers	Right Atrium	heart
6	chr21:40356800-40363000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr21:40357000-40361800	Enhancers	HepG2	liver
8	chr21:40357400-40363000	Enhancers	NHDF-Ad	bronchial
9	chr21:40357400-40376400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr21:40357600-40361600	Enhancers	Brain Germinal Matrix	brain
11	chr21:40357800-40361600	Weak transcription	Pancreas	Pancrea
12	chr21:40357800-40361800	Weak transcription	Liver	Liver
13	chr21:40358000-40362400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr21:40358000-40363000	Enhancers	NHLF	lung
15	chr21:40358200-40361600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr21:40358200-40361600	Enhancers	Stomach Smooth Muscle	stomach
17	chr21:40358400-40361600	Weak transcription	Ovary	ovary
18	chr21:40358400-40363000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr21:40358600-40362800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:40358600-40363000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:40358600-40363800	Enhancers	Dnd41	blood
22	chr21:40358800-40363800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr21:40359000-40363800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr21:40359000-40365400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:40359200-40362400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:40359200-40362800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr21:40359400-40361800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr21:40359400-40363800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:40359400-40365000	Enhancers	Placenta	Placenta
30	chr21:40359600-40361600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr21:40359600-40361800	Weak transcription	Brain Angular Gyrus	brain
32	chr21:40359600-40364200	Enhancers	Fetal Intestine Small	intestine
33	chr21:40359800-40364400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr21:40359800-40368400	Enhancers	Fetal Heart	heart
35	chr21:40360000-40361600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr21:40360000-40361800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr21:40360000-40365000	Enhancers	Fetal Intestine Large	intestine
38	chr21:40360000-40369200	Enhancers	Fetal Lung	lung
39	chr21:40360000-40370000	Enhancers	Primary hematopoietic stem cells	blood
40	chr21:40360200-40361600	Weak transcription	Brain Anterior Caudate	brain
41	chr21:40360400-40364800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr21:40360400-40368600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr21:40360600-40363000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr21:40360600-40363000	Enhancers	Colonic Mucosa	Colon
45	chr21:40360600-40363200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr21:40360800-40361800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
47	chr21:40360800-40361800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
48	chr21:40360800-40361800	Enhancers	Fetal Muscle Leg	muscle
49	chr21:40360800-40362800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr21:40360800-40362800	Enhancers	Rectal Mucosa Donor 31	rectum

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