Variant report

Variant	rs17021775
Chromosome Location	chr4:95472721-95472722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95466562..95469843-chr4:95470075..95473924,5	K562	blood:
2	chr4:95455791..95459041-chr4:95471671..95474537,3	K562	blood:
3	chr4:95464708..95469426-chr4:95470140..95474023,5	K562	blood:
4	chr4:95373076..95374774-chr4:95472504..95474063,2	MCF-7	breast:
5	chr4:95386864..95390124-chr4:95470356..95473538,3	K562	blood:
6	chr4:95472261..95474248-chr4:95480587..95483073,2	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10003483	1.00[CEU][hapmap]
rs10019452	0.85[JPT][hapmap]
rs10023909	0.80[EUR][1000 genomes]
rs10026467	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10034254	0.85[JPT][hapmap]
rs10516952	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722955	0.85[JPT][hapmap];1.00[MEX][hapmap]
rs11725792	0.86[EUR][1000 genomes]
rs11731783	0.85[JPT][hapmap];1.00[MEX][hapmap]
rs11735827	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.97[EUR][1000 genomes]
rs13133845	0.85[JPT][hapmap]
rs17021818	0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs17021930	0.85[JPT][hapmap];1.00[MEX][hapmap]
rs17336470	0.85[JPT][hapmap];1.00[MEX][hapmap]
rs1812924	0.80[EUR][1000 genomes]
rs2510772	0.81[LWK][hapmap];0.81[YRI][hapmap]
rs28492872	0.80[EUR][1000 genomes]
rs28560157	0.80[EUR][1000 genomes]
rs28579984	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28612590	0.91[EUR][1000 genomes]
rs28690414	0.91[EUR][1000 genomes]
rs28717041	0.91[EUR][1000 genomes]
rs3792662	0.89[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792665	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805265	0.88[GIH][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs3805282	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55858829	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6840774	0.85[JPT][hapmap]
rs6843496	1.00[CEU][hapmap]
rs7690869	0.85[JPT][hapmap]
rs9307143	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307145	0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs9307146	0.85[JPT][hapmap]
rs9996560	1.00[CEU][hapmap]
rs9997947	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:95457400-95485400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:95458000-95480400	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:95458200-95483000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:95458200-95488800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:95459000-95473000	Weak transcription	Fetal Kidney	kidney
7	chr4:95459000-95480400	Weak transcription	Adipose Nuclei	Adipose
8	chr4:95459800-95481200	Weak transcription	Aorta	Aorta
9	chr4:95463000-95480400	Weak transcription	Right Ventricle	heart
10	chr4:95463000-95487800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:95463200-95481200	Weak transcription	Left Ventricle	heart
12	chr4:95466000-95474800	Weak transcription	Psoas Muscle	Psoas
13	chr4:95466000-95475000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:95467600-95479400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:95469800-95476600	Enhancers	Fetal Heart	heart
16	chr4:95470000-95489200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:95470400-95472800	Weak transcription	NHDF-Ad	bronchial
18	chr4:95470400-95473000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:95470400-95473200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:95470400-95473200	Enhancers	HSMMtube	muscle
21	chr4:95470400-95477800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:95470400-95479600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:95470400-95479600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:95470400-95480400	Weak transcription	NHLF	lung
25	chr4:95470400-95482600	Weak transcription	HepG2	liver
26	chr4:95470400-95484800	Weak transcription	Fetal Intestine Large	intestine
27	chr4:95470600-95472800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:95470600-95473200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:95470600-95479400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:95470600-95480800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:95470600-95483600	Weak transcription	Fetal Intestine Small	intestine
32	chr4:95470600-95489200	Weak transcription	Small Intestine	intestine
33	chr4:95470800-95474400	Weak transcription	NHEK	skin
34	chr4:95470800-95479200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:95471000-95472800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:95471000-95472800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:95471000-95472800	Enhancers	K562	blood
38	chr4:95471000-95479200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:95471000-95480200	Weak transcription	HMEC	breast
40	chr4:95471000-95480400	Weak transcription	Hela-S3	cervix
41	chr4:95471000-95480600	Weak transcription	Placenta	Placenta
42	chr4:95471200-95472800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:95471200-95480600	Weak transcription	Right Atrium	heart
44	chr4:95471400-95473200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:95471400-95473800	Enhancers	Osteobl	bone
46	chr4:95471600-95473200	Genic enhancers	HSMM	muscle
47	chr4:95472400-95473000	Enhancers	Colon Smooth Muscle	Colon
48	chr4:95472400-95475000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:95472600-95472800	Flanking Active TSS	HUVEC	blood vessel
50	chr4:95472600-95473200	Enhancers	A549	lung

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