Variant report

Variant	rs373687
Chromosome Location	chr21:46558780-46558781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46557676..46559352-chr21:46716389..46718558,2	MCF-7	breast:
2	chr21:46395302..46396927-chr21:46557197..46559182,2	MCF-7	breast:
3	chr21:46492190..46501097-chr21:46553481..46562048,38	K562	blood:
4	chr21:46557269..46559639-chr21:46569704..46571719,2	K562	blood:
5	chr21:46557040..46559507-chr21:46738434..46740061,2	MCF-7	breast:
6	chr21:46558605..46559176-chr21:46689924..46690498,2	MCF-7	breast:
7	chr21:46558139..46559799-chr21:46568659..46571204,2	K562	blood:
8	chr21:46558032..46564399-chr21:46706240..46711834,9	MCF-7	breast:
9	chr21:46350869..46353170-chr21:46557195..46559661,2	MCF-7	breast:
10	chr21:46556578..46559478-chr21:46562183..46565396,3	MCF-7	breast:
11	chr21:46557748..46561718-chr21:46739963..46743183,3	MCF-7	breast:
12	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
13	chr21:46345835..46349084-chr21:46555674..46558816,3	MCF-7	breast:
14	chr21:46558158..46559139-chr21:46656080..46657000,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215447	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000186866	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2150438	0.80[CHB][hapmap]
rs2838762	0.82[CHB][hapmap]
rs2838763	0.80[CHB][hapmap]
rs2838771	0.88[CEU][hapmap]
rs2838773	0.92[CEU][hapmap];0.87[CHB][hapmap]
rs2838808	0.84[JPT][hapmap]
rs2838817	0.84[JPT][hapmap]
rs400140	0.88[CEU][hapmap];0.87[CHB][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes]
rs414743	0.86[CHB][hapmap];0.84[GIH][hapmap]
rs415597	0.92[JPT][hapmap]
rs419322	0.89[GIH][hapmap]
rs7282639	0.80[CHB][hapmap]

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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46532600-46570600	Weak transcription	Dnd41	blood
2	chr21:46544200-46560400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr21:46548600-46571600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr21:46549800-46559400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:46549800-46567600	Weak transcription	Gastric	stomach
6	chr21:46550000-46567800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:46550400-46571200	Weak transcription	Brain Germinal Matrix	brain
8	chr21:46550800-46563600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:46551000-46562400	Weak transcription	HMEC	breast
10	chr21:46551400-46567400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:46551600-46562400	Weak transcription	Brain Angular Gyrus	brain
12	chr21:46551600-46562600	Genic enhancers	HSMM	muscle
13	chr21:46551800-46565400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr21:46553400-46561600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr21:46553400-46568600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr21:46553400-46570600	Weak transcription	Esophagus	oesophagus
17	chr21:46553400-46574600	Weak transcription	Fetal Heart	heart
18	chr21:46553600-46558800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr21:46553600-46562600	Weak transcription	Placenta	Placenta
20	chr21:46553600-46563000	Weak transcription	Lung	lung
21	chr21:46553800-46561800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr21:46554800-46559200	Strong transcription	Primary B cells from cord blood	blood
23	chr21:46554800-46564600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr21:46555200-46574600	Weak transcription	Right Atrium	heart
25	chr21:46555400-46562400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr21:46555400-46562400	Weak transcription	Left Ventricle	heart
27	chr21:46555400-46562400	Weak transcription	Right Ventricle	heart
28	chr21:46555600-46571600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr21:46555800-46562600	Weak transcription	Primary T cells from cord blood	blood
30	chr21:46555800-46570800	Weak transcription	Fetal Lung	lung
31	chr21:46555800-46571600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr21:46556000-46560200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr21:46556200-46562200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr21:46556400-46560200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr21:46556400-46560200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr21:46556400-46562800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr21:46556600-46564600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr21:46556600-46581000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr21:46556800-46559200	Enhancers	Duodenum Mucosa	Duodenum
40	chr21:46556800-46562800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr21:46557000-46559600	Genic enhancers	Hela-S3	cervix
42	chr21:46557000-46561800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr21:46557000-46562400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr21:46557000-46571400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr21:46557000-46604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr21:46557200-46591800	Weak transcription	HUVEC	blood vessel
47	chr21:46557400-46558800	Enhancers	Fetal Intestine Large	intestine
48	chr21:46557400-46559200	Enhancers	Fetal Intestine Small	intestine
49	chr21:46557400-46559400	Genic enhancers	HSMMtube	muscle
50	chr21:46557400-46560400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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