Variant report

Variant	rs760154
Chromosome Location	chr21:40362990-40362991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40186694..40188983-chr21:40361841..40364418,2	MCF-7	breast:
2	chr21:40282115..40285286-chr21:40361301..40363666,3	MCF-7	breast:
3	21:40348344-40365490..21:40748850-40752541	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000227406	Chromatin interaction
ENSG00000182093	Chromatin interaction

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

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

rs_ID	r²[population]
rs2836808	0.91[CEU][hapmap]
rs4414759	0.95[CHB][hapmap];0.86[CHD][hapmap];0.83[ASN][1000 genomes]
rs760156	0.84[ASN][1000 genomes]
rs973193	0.81[ASW][hapmap]
rs9984705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.95[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:86 , 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	chr21:40356800-40363000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr21:40357400-40363000	Enhancers	NHDF-Ad	bronchial
6	chr21:40357400-40376400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr21:40358000-40363000	Enhancers	NHLF	lung
8	chr21:40358400-40363000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:40358600-40363000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:40358600-40363800	Enhancers	Dnd41	blood
11	chr21:40358800-40363800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr21:40359000-40363800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr21:40359000-40365400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:40359400-40363800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:40359400-40365000	Enhancers	Placenta	Placenta
16	chr21:40359600-40364200	Enhancers	Fetal Intestine Small	intestine
17	chr21:40359800-40364400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr21:40359800-40368400	Enhancers	Fetal Heart	heart
19	chr21:40360000-40365000	Enhancers	Fetal Intestine Large	intestine
20	chr21:40360000-40369200	Enhancers	Fetal Lung	lung
21	chr21:40360000-40370000	Enhancers	Primary hematopoietic stem cells	blood
22	chr21:40360400-40364800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr21:40360400-40368600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr21:40360600-40363000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:40360600-40363000	Enhancers	Colonic Mucosa	Colon
26	chr21:40360600-40363200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr21:40360800-40369600	Enhancers	Fetal Thymus	thymus
28	chr21:40360800-40376600	Weak transcription	Gastric	stomach
29	chr21:40361000-40363000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:40361000-40364000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:40361000-40364800	Enhancers	Lung	lung
32	chr21:40361200-40363000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chr21:40361200-40363000	Enhancers	HSMM	muscle
34	chr21:40361200-40363400	Enhancers	Fetal Muscle Trunk	muscle
35	chr21:40361200-40364800	Enhancers	HUVEC	blood vessel
36	chr21:40361400-40363000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr21:40361400-40363200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr21:40361400-40363400	Enhancers	HMEC	breast
39	chr21:40361400-40364600	Enhancers	Right Ventricle	heart
40	chr21:40361400-40364800	Enhancers	Spleen	Spleen
41	chr21:40361600-40363000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr21:40361600-40363000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr21:40361600-40363200	Enhancers	Brain Substantia Nigra	brain
44	chr21:40361800-40363000	Enhancers	Duodenum Mucosa	Duodenum
45	chr21:40362000-40363000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr21:40362000-40363000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
47	chr21:40362000-40363200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
48	chr21:40362000-40364200	Weak transcription	Pancreas	Pancrea
49	chr21:40362000-40364800	Weak transcription	Brain Anterior Caudate	brain
50	chr21:40362000-40366400	Enhancers	Adipose Nuclei	Adipose

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