Variant report

Variant	rs11655584
Chromosome Location	chr17:38139024-38139025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38137564-38139125	K562	blood:	n/a	n/a
2	POLR2A	chr17:38138945-38139072	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38038617..38042523-chr17:38137576..38140223,3	K562	blood:
2	chr17:38136187..38139299-chr17:38140015..38144342,5	K562	blood:
3	chr17:38137253..38140627-chr17:38150200..38152697,4	MCF-7	breast:
4	chr17:38138604..38140537-chr17:38144740..38146417,2	K562	blood:
5	chr17:38073305..38078163-chr17:38135913..38140017,5	K562	blood:
6	chr17:38137876..38139862-chr17:38253958..38255577,2	K562	blood:
7	chr17:38107027..38109287-chr17:38138129..38139921,2	K562	blood:
8	chr17:38136308..38139120-chr17:38254735..38257246,2	MCF-7	breast:
9	chr17:38073305..38078633-chr17:38135671..38140017,6	K562	blood:
10	chr17:38137113..38139548-chr17:38217878..38220392,2	K562	blood:
11	chr17:38039742..38042523-chr17:38137576..38139684,2	K562	blood:

No data

Variant related genes	Relation type
PSMD3	TF binding region
ENSG00000108344	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000172057	Chromatin interaction
ENSG00000073605	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11078932	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11555254	1.00[CHD][hapmap]
rs2012	0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs2227325	0.85[EUR][1000 genomes]
rs2827	1.00[CHD][hapmap]
rs3859188	0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58212353	1.00[ASN][1000 genomes]
rs7222556	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8080546	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs9912981	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9916279	1.00[CHD][hapmap];0.86[LWK][hapmap];0.80[MKK][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];1.00[ASN][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	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38137800-38139200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
2	chr17:38137800-38139200	Transcr. at gene 5' and 3'	NHEK	skin
3	chr17:38137800-38140400	Weak transcription	Spleen	Spleen
4	chr17:38137800-38140600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr17:38138000-38139200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:38138000-38139200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:38138200-38139200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr17:38138200-38139200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr17:38138200-38139200	Transcr. at gene 5' and 3'	K562	blood
10	chr17:38138200-38139200	Flanking Active TSS	NHDF-Ad	bronchial
11	chr17:38138200-38140000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:38138200-38140400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:38138200-38140600	Weak transcription	Aorta	Aorta
14	chr17:38138400-38139600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:38138400-38139800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr17:38138400-38139800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr17:38138400-38140000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:38138400-38140000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr17:38138400-38140000	Weak transcription	Lung	lung
20	chr17:38138400-38140400	Weak transcription	Esophagus	oesophagus
21	chr17:38138400-38140400	Weak transcription	Pancreas	Pancrea
22	chr17:38138400-38140600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr17:38138400-38140600	Weak transcription	Left Ventricle	heart
24	chr17:38138400-38140600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr17:38138600-38139200	Enhancers	Primary T cells from cord blood	blood
26	chr17:38138600-38139200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr17:38138600-38139200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr17:38138600-38139200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr17:38138600-38139200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:38138600-38139200	Enhancers	Brain Angular Gyrus	brain
31	chr17:38138600-38139200	Enhancers	Brain Cingulate Gyrus	brain
32	chr17:38138600-38139200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr17:38138600-38139200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:38138600-38139200	Enhancers	Brain Substantia Nigra	brain
35	chr17:38138600-38139200	Enhancers	Colon Smooth Muscle	Colon
36	chr17:38138600-38139200	Enhancers	Duodenum Mucosa	Duodenum
37	chr17:38138600-38139200	Enhancers	Rectal Smooth Muscle	rectum
38	chr17:38138600-38139200	Enhancers	Thymus	Thymus
39	chr17:38138600-38139200	Enhancers	Hela-S3	cervix
40	chr17:38138600-38139200	Active TSS	NHLF	lung
41	chr17:38138600-38139400	Enhancers	Primary B cells from cord blood	blood
42	chr17:38138600-38139400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr17:38138600-38139400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:38138600-38139400	Enhancers	Liver	Liver
45	chr17:38138600-38139400	Enhancers	Fetal Intestine Large	intestine
46	chr17:38138600-38139400	Enhancers	Fetal Lung	lung
47	chr17:38138600-38139400	Weak transcription	Fetal Thymus	thymus
48	chr17:38138600-38139400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr17:38138600-38139400	Enhancers	HUVEC	blood vessel
50	chr17:38138600-38139600	Enhancers	Brain Germinal Matrix	brain

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