Variant report

Variant	rs11989584
Chromosome Location	chr8:125553102-125553103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr8:125552853-125553191	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:125547667..125554911-chr8:125566055..125572382,17	MCF-7	breast:
2	chr8:125551283..125554130-chr8:125630970..125633379,3	K562	blood:
3	chr8:125459427..125466261-chr8:125549985..125555147,10	K562	blood:
4	chr8:125550901..125553938-chr8:125568241..125570881,3	K562	blood:
5	chr8:125550700..125556653-chr8:126010348..126014681,6	K562	blood:
6	chr8:125549460..125555106-chr8:125573452..125578755,9	MCF-7	breast:
7	chr8:125552236..125554783-chr8:125637109..125639947,2	MCF-7	breast:
8	chr8:125483604..125491110-chr8:125548591..125554086,23	K562	blood:
9	chr8:125551552..125553200-chr8:125577686..125580051,3	K562	blood:
10	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
11	chr8:125484053..125491713-chr8:125548138..125554442,21	K562	blood:
12	chr8:125551256..125553908-chr8:126010348..126013536,3	K562	blood:
13	chr8:125460680..125466261-chr8:125549985..125555147,10	K562	blood:

No data

Variant related genes	Relation type
NDUFB9	TF binding region
TATDN1	TF binding region
ENSG00000104549	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000253513	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11989882	1.00[MEX][hapmap]
rs11996628	1.00[MEX][hapmap]
rs11997363	1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs16899658	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16899698	1.00[MEX][hapmap]
rs16899909	1.00[MEX][hapmap]
rs16899923	1.00[MEX][hapmap]
rs6997810	0.85[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes]
rs7820232	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7833362	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125550000-125553200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:125550400-125553200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:125552000-125553200	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr8:125552000-125553200	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr8:125552000-125553200	Flanking Active TSS	Fetal Heart	heart
6	chr8:125552000-125553200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr8:125552000-125553200	Flanking Active TSS	Dnd41	blood
8	chr8:125552000-125553200	Flanking Active TSS	Hela-S3	cervix
9	chr8:125552000-125553400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:125552000-125554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:125552000-125555400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:125552000-125557400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:125552200-125553200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:125552200-125553200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:125552200-125553200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:125552200-125553200	Enhancers	Primary B cells from cord blood	blood
17	chr8:125552200-125553200	Enhancers	Primary B cells from peripheral blood	blood
18	chr8:125552200-125553200	Flanking Active TSS	NHEK	skin
19	chr8:125552200-125553400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr8:125552200-125554000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr8:125552200-125555200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:125552200-125555200	Weak transcription	Aorta	Aorta
23	chr8:125552200-125565200	Weak transcription	Small Intestine	intestine
24	chr8:125552200-125565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:125552200-125568600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr8:125552400-125553200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr8:125552400-125553200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:125552400-125553200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:125552400-125553200	Enhancers	Brain Angular Gyrus	brain
30	chr8:125552400-125553200	Enhancers	Brain Cingulate Gyrus	brain
31	chr8:125552400-125553200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:125552400-125553200	Enhancers	Fetal Intestine Small	intestine
33	chr8:125552400-125553200	Enhancers	Rectal Smooth Muscle	rectum
34	chr8:125552400-125553200	Flanking Active TSS	A549	lung
35	chr8:125552400-125553400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:125552400-125553800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr8:125552400-125554000	Weak transcription	Thymus	Thymus
38	chr8:125552400-125554200	Weak transcription	Fetal Thymus	thymus
39	chr8:125552400-125554400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr8:125552400-125554400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:125552400-125554400	Weak transcription	Gastric	stomach
42	chr8:125552400-125554400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:125552400-125554400	Weak transcription	Spleen	Spleen
44	chr8:125552400-125554600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:125552400-125554600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:125552400-125554600	Weak transcription	Left Ventricle	heart
47	chr8:125552400-125554600	Weak transcription	Ovary	ovary
48	chr8:125552400-125554800	Weak transcription	HSMMtube	muscle
49	chr8:125552400-125555200	Weak transcription	Placenta	Placenta
50	chr8:125552400-125555400	Weak transcription	Colonic Mucosa	Colon

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