Variant report

Variant	rs2836917
Chromosome Location	chr21:40509990-40509991
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:39985693..39986677-chr21:40509677..40510452,2	MCF-7	breast:
2	chr21:39727664..39728172-chr21:40509611..40510307,2	MCF-7	breast:
3	chr21:40277363..40279174-chr21:40508328..40510405,2	K562	blood:
4	chr21:39985870..39986812-chr21:40509844..40510751,3	MCF-7	breast:
5	chr21:40509643..40512150-chr21:40518013..40520045,2	MCF-7	breast:
6	chr21:39877335..39878226-chr21:40509461..40510323,2	MCF-7	breast:
7	chr21:39877216..39878325-chr21:40509783..40510690,4	K562	blood:
8	chr21:39992817..39993654-chr21:40509875..40510777,2	K562	blood:
9	chr21:40105563..40106464-chr21:40509713..40510615,6	MCF-7	breast:
10	chr21:40083823..40084458-chr21:40509555..40510373,2	MCF-7	breast:
11	chr21:40508919..40510816-chr21:40719509..40722111,2	K562	blood:
12	chr21:40460308..40461233-chr21:40509803..40510770,2	MCF-7	breast:
13	chr21:40105520..40106468-chr21:40509285..40510275,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205581	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1078306	1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13339986	1.00[YRI][hapmap]
rs2836901	1.00[CHB][hapmap]
rs2836907	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2836915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836920	1.00[CHB][hapmap]
rs56113957	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40505000-40510000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr21:40507200-40510200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:40507400-40510600	Enhancers	HepG2	liver
4	chr21:40508600-40510000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:40508600-40510000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr21:40508600-40510000	Enhancers	A549	lung
7	chr21:40508600-40510000	Enhancers	NHLF	lung
8	chr21:40508600-40510400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:40508600-40510600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:40508600-40510600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr21:40508600-40510600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr21:40508600-40510600	Enhancers	Fetal Intestine Small	intestine
13	chr21:40508600-40510600	Enhancers	Hela-S3	cervix
14	chr21:40508600-40510600	Enhancers	NH-A	brain
15	chr21:40508800-40510000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:40509000-40510600	Enhancers	Fetal Kidney	kidney
17	chr21:40509200-40510000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:40509200-40510000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr21:40509200-40510200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:40509200-40510200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr21:40509200-40510200	Enhancers	Fetal Lung	lung
22	chr21:40509200-40510400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr21:40509200-40510600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr21:40509200-40510600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr21:40509200-40510600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr21:40509200-40510600	Enhancers	Fetal Intestine Large	intestine
27	chr21:40509200-40510600	Enhancers	Fetal Stomach	stomach
28	chr21:40509400-40510000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr21:40509400-40510400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr21:40509400-40510600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr21:40509400-40510600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr21:40509400-40513600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr21:40509600-40510000	Weak transcription	Osteobl	bone
34	chr21:40509600-40513200	Weak transcription	Placenta	Placenta
35	chr21:40509800-40510200	Weak transcription	K562	blood
36	chr21:40509800-40512000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:40509800-40513200	Weak transcription	Fetal Muscle Leg	muscle
38	chr21:40509800-40513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr21:40509800-40513800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr21:40509800-40515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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