Variant report

Variant	rs17116430
Chromosome Location	chr5:154166013-154166014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:154164555..154166068-chr5:154237467..154239293,2	K562	blood:
2	chr5:154133706..154138034-chr5:154163446..154168926,6	MCF-7	breast:
3	chr5:154158451..154160663-chr5:154164358..154166909,3	MCF-7	breast:
4	chr5:154163381..154166073-chr5:154170171..154172796,2	MCF-7	breast:
5	chr5:154164286..154166504-chr5:154178715..154180679,2	MCF-7	breast:
6	chr5:154161718..154166122-chr5:154172267..154174755,4	MCF-7	breast:
7	chr5:154029552..154031402-chr5:154164708..154167490,2	K562	blood:

Variant related genes	Relation type
ENSG00000155506	Chromatin interaction
ENSG00000170271	Chromatin interaction
ENSG00000155508	Chromatin interaction

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

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

rs_ID	r²[population]
rs10434715	1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10463258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12652443	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12653909	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1467294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17116362	1.00[EUR][1000 genomes]
rs17116407	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17116424	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17116466	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4958768	1.00[AMR][1000 genomes];1.00[EUR][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	nsv830521	chr5:154147567-154244266	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 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	chr5:154151600-154171200	Weak transcription	Fetal Brain Male	brain
2	chr5:154152600-154168200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr5:154152600-154168400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr5:154157800-154168000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:154157800-154168200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr5:154157800-154168200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:154157800-154168400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:154158000-154168200	Enhancers	Left Ventricle	heart
9	chr5:154158000-154168400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr5:154158200-154168200	Enhancers	Spleen	Spleen
11	chr5:154158800-154168200	Enhancers	Pancreas	Pancrea
12	chr5:154159000-154166800	Weak transcription	HUVEC	blood vessel
13	chr5:154159000-154168000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr5:154159400-154167800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:154159400-154168200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:154159600-154168200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:154159800-154167400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:154159800-154168400	Strong transcription	Dnd41	blood
19	chr5:154160400-154168200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:154161200-154167600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:154161200-154168000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:154161200-154168000	Enhancers	Stomach Mucosa	stomach
23	chr5:154161200-154168400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:154161200-154168600	Enhancers	Fetal Heart	heart
25	chr5:154161400-154166200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:154161400-154166400	Enhancers	Fetal Intestine Large	intestine
27	chr5:154161400-154166800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:154161400-154167600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr5:154161400-154168000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:154161400-154168200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:154161400-154168200	Enhancers	Brain Anterior Caudate	brain
32	chr5:154161400-154168200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:154161400-154168200	Enhancers	Ovary	ovary
34	chr5:154161400-154168600	Enhancers	Psoas Muscle	Psoas
35	chr5:154161600-154166800	Enhancers	Osteobl	bone
36	chr5:154161600-154167400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:154161600-154168000	Enhancers	Brain Hippocampus Middle	brain
38	chr5:154161600-154168200	Enhancers	Colon Smooth Muscle	Colon
39	chr5:154161800-154168200	Enhancers	Lung	lung
40	chr5:154161800-154168600	Enhancers	Right Atrium	heart
41	chr5:154161800-154169800	Weak transcription	HMEC	breast
42	chr5:154162200-154167000	Weak transcription	Thymus	Thymus
43	chr5:154162400-154170200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr5:154162600-154168200	Enhancers	Primary B cells from peripheral blood	blood
45	chr5:154163000-154167600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:154163000-154169600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr5:154163000-154169800	Weak transcription	Fetal Brain Female	brain
48	chr5:154163000-154171200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:154163200-154169400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr5:154163200-154169800	Weak transcription	NHLF	lung

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