Variant report

Variant	rs17586019
Chromosome Location	chr4:110493384-110493385
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110480002..110482808-chr4:110493140..110496581,4	MCF-7	breast:
2	chr4:110481532..110484563-chr4:110491225..110493548,4	K562	blood:

Variant related genes	Relation type
ENSG00000005059	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1018929	1.00[EUR][1000 genomes]
rs10488910	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11941206	1.00[ASN][1000 genomes]
rs12642304	0.87[EUR][1000 genomes]
rs17040512	0.89[EUR][1000 genomes]
rs17040528	1.00[ASN][1000 genomes]
rs17585970	1.00[EUR][1000 genomes]
rs17619262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17619310	1.00[EUR][1000 genomes]
rs6821051	0.84[EUR][1000 genomes]
rs6821221	0.84[EUR][1000 genomes]
rs6821382	0.96[ASN][1000 genomes]
rs7687245	0.85[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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110482800-110494400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:110482800-110495400	Weak transcription	Stomach Mucosa	stomach
3	chr4:110483000-110498200	Weak transcription	HMEC	breast
4	chr4:110483200-110494400	Weak transcription	NHLF	lung
5	chr4:110483400-110494000	Weak transcription	HSMM	muscle
6	chr4:110484000-110496000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:110484200-110493600	Weak transcription	NHEK	skin
8	chr4:110484200-110495800	Weak transcription	Fetal Thymus	thymus
9	chr4:110484200-110509400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:110484400-110495400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:110484400-110495800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:110484400-110497200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:110484400-110509400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:110484400-110509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:110484400-110509400	Weak transcription	Thymus	Thymus
16	chr4:110484800-110495600	Weak transcription	Dnd41	blood
17	chr4:110485000-110495400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:110486000-110493800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:110486800-110495200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:110490000-110502600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr4:110490600-110495800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr4:110490800-110493400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr4:110491000-110493600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:110491200-110493400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr4:110491200-110495800	Weak transcription	GM12878-XiMat	blood
26	chr4:110491600-110495200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:110491800-110494200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr4:110491800-110495400	Weak transcription	HUVEC	blood vessel
29	chr4:110492000-110495000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:110492200-110494600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr4:110492400-110494800	Weak transcription	Primary T cells from cord blood	blood
32	chr4:110492800-110493400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr4:110492800-110493800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr4:110493000-110493800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr4:110493000-110495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:110493200-110495400	Weak transcription	Brain Germinal Matrix	brain
37	chr4:110493200-110497600	Weak transcription	Primary B cells from cord blood	blood

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