Variant report

Variant	rs17164854
Chromosome Location	chr5:126865968-126865969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126850559..126855661-chr5:126863742..126868759,5	K562	blood:
2	chr5:126865735..126868719-chr5:126869508..126872408,3	MCF-7	breast:
3	chr5:126852792..126855816-chr5:126865292..126869822,6	K562	blood:

Variant related genes	Relation type
ENSG00000164244	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10064653	1.00[CHB][hapmap]
rs10491250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519935	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs11745840	1.00[CEU][hapmap]
rs12109001	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12110288	0.81[EUR][1000 genomes]
rs1363384	1.00[AFR][1000 genomes]
rs1363386	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1529468	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17164752	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17164824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164923	1.00[CEU][hapmap]
rs17164951	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17165013	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17165018	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17165019	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17684644	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17684655	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17684679	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17684691	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17684740	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17684775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17763126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17763172	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17839687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1990954	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1990955	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2042942	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2108888	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2270933	1.00[CEU][hapmap]
rs3851468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3885906	0.93[EUR][1000 genomes]
rs55821064	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865700	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6866275	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6873921	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6874260	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6877383	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6892624	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6897163	1.00[CEU][hapmap]
rs7728864	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7737871	1.00[CEU][hapmap]
rs929781	1.00[CEU][hapmap]
rs929782	1.00[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126855400-126883200	Weak transcription	Stomach Mucosa	stomach
2	chr5:126855600-126872200	Strong transcription	Fetal Intestine Large	intestine
3	chr5:126855800-126869400	Weak transcription	Psoas Muscle	Psoas
4	chr5:126856000-126876400	Strong transcription	NH-A	brain
5	chr5:126856200-126876200	Strong transcription	NHDF-Ad	bronchial
6	chr5:126856200-126877000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:126857200-126867400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:126857200-126875800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:126857200-126876000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:126857400-126867400	Strong transcription	Dnd41	blood
11	chr5:126857600-126876400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr5:126857600-126876800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:126857600-126877000	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr5:126857800-126866800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:126857800-126872600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:126857800-126875400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:126857800-126875600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:126857800-126876400	Strong transcription	HSMM	muscle
19	chr5:126857800-126876800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:126857800-126877000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:126857800-126877000	Strong transcription	Liver	Liver
22	chr5:126858200-126873600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:126858200-126874600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:126858200-126874800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:126858200-126876600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:126858400-126876400	Strong transcription	Fetal Thymus	thymus
27	chr5:126858600-126875000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:126858600-126876400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr5:126858600-126876600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:126858600-126877000	Strong transcription	Placenta	Placenta
31	chr5:126858800-126876400	Strong transcription	Osteobl	bone
32	chr5:126859000-126874800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr5:126859000-126875200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:126859000-126876000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:126859000-126876400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:126859000-126876600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr5:126859000-126876800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr5:126859000-126877000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr5:126859200-126867400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:126859200-126872000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:126859200-126872000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:126859200-126872200	Strong transcription	Adipose Nuclei	Adipose
43	chr5:126859200-126875800	Strong transcription	HepG2	liver
44	chr5:126859200-126876600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr5:126859400-126873000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr5:126860000-126867200	Strong transcription	Fetal Kidney	kidney
47	chr5:126860000-126871800	Strong transcription	Fetal Brain Female	brain
48	chr5:126860200-126867000	Strong transcription	A549	lung
49	chr5:126860200-126867400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr5:126860400-126866800	Weak transcription	Pancreas	Pancrea

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