Variant report

Variant	rs2836815
Chromosome Location	chr21:40365171-40365172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40175721..40178451-chr21:40363610..40366022,2	MCF-7	breast:
2	chr21:40178699..40181140-chr21:40363859..40366639,2	MCF-7	breast:
3	chr21:40363729..40365519-chr21:40450933..40453714,2	MCF-7	breast:
4	21:40348344-40365490..21:40748850-40752541	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000182093	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2836814	0.91[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836822	0.82[JPT][hapmap]
rs2836823	0.82[JPT][hapmap]
rs7277840	0.96[CEU][hapmap];0.92[MEX][hapmap];0.80[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	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:78 , 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	chr21:40356000-40369400	Enhancers	Left Ventricle	heart
3	chr21:40357400-40376400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr21:40359000-40365400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:40359800-40368400	Enhancers	Fetal Heart	heart
6	chr21:40360000-40369200	Enhancers	Fetal Lung	lung
7	chr21:40360000-40370000	Enhancers	Primary hematopoietic stem cells	blood
8	chr21:40360400-40368600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr21:40360800-40369600	Enhancers	Fetal Thymus	thymus
10	chr21:40360800-40376600	Weak transcription	Gastric	stomach
11	chr21:40362000-40366400	Enhancers	Adipose Nuclei	Adipose
12	chr21:40362000-40368600	Enhancers	Fetal Stomach	stomach
13	chr21:40362000-40369600	Enhancers	Fetal Muscle Leg	muscle
14	chr21:40362200-40365800	Weak transcription	Liver	Liver
15	chr21:40362200-40366200	Enhancers	Colon Smooth Muscle	Colon
16	chr21:40362200-40367200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:40362200-40369200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr21:40362400-40366600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr21:40362600-40368000	Enhancers	HepG2	liver
20	chr21:40362600-40376800	Weak transcription	Aorta	Aorta
21	chr21:40362800-40365600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:40362800-40365800	Weak transcription	Psoas Muscle	Psoas
23	chr21:40362800-40367000	Enhancers	Stomach Smooth Muscle	stomach
24	chr21:40362800-40367200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr21:40362800-40367600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr21:40362800-40367600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr21:40363600-40365600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr21:40363600-40367000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:40363600-40367000	Enhancers	Right Atrium	heart
30	chr21:40363600-40367200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr21:40363600-40375800	Weak transcription	Colonic Mucosa	Colon
32	chr21:40363800-40366800	Enhancers	HMEC	breast
33	chr21:40363800-40367600	Weak transcription	Dnd41	blood
34	chr21:40364000-40365200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr21:40364000-40365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:40364000-40367000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr21:40364200-40365400	Weak transcription	Fetal Intestine Small	intestine
38	chr21:40364200-40365400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr21:40364200-40365400	Enhancers	NHEK	skin
40	chr21:40364200-40365800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr21:40364200-40365800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr21:40364200-40366800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr21:40364200-40366800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr21:40364200-40366800	Enhancers	Fetal Kidney	kidney
45	chr21:40364200-40367800	Weak transcription	Thymus	Thymus
46	chr21:40364400-40365800	Enhancers	Brain Hippocampus Middle	brain
47	chr21:40364400-40366200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr21:40364400-40366200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:40364400-40366200	Enhancers	NH-A	brain
50	chr21:40364400-40366400	Enhancers	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links