Variant report

Variant	rs7726664
Chromosome Location	chr5:179672108-179672109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179669999..179672400-chr5:179718996..179720849,2	K562	blood:
2	chr5:179670436..179673688-chr5:179675507..179679295,5	K562	blood:

Variant related genes	Relation type
ENSG00000050748	Chromatin interaction
ENSG00000248367	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1127575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955223	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17627593	0.93[CHB][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs4362908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4481314	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56131100	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs58528869	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61478999	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6601104	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6703	0.93[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.96[ASN][1000 genomes]
rs6860142	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896513	0.93[CHB][hapmap];0.87[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs7710896	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7724543	0.87[CHB][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap]
rs9605	0.93[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr5:179651600-179678000	Weak transcription	Fetal Heart	heart
2	chr5:179653600-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:179655000-179679600	Weak transcription	Stomach Mucosa	stomach
4	chr5:179655400-179712600	ZNF genes & repeats	Liver	Liver
5	chr5:179655800-179675400	Strong transcription	Primary B cells from cord blood	blood
6	chr5:179656200-179675000	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:179656600-179703000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr5:179657400-179673600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:179657400-179674400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:179657800-179674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:179657800-179697000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:179658400-179672600	Strong transcription	Thymus	Thymus
13	chr5:179658400-179679200	Strong transcription	Primary T cells from cord blood	blood
14	chr5:179658800-179680400	Weak transcription	Fetal Kidney	kidney
15	chr5:179659000-179677600	Strong transcription	Dnd41	blood
16	chr5:179659200-179672600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:179659200-179674200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr5:179659400-179674800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:179659600-179674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:179660200-179672800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:179660200-179679800	Weak transcription	HUVEC	blood vessel
22	chr5:179660400-179677600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr5:179660800-179706800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:179661000-179674200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:179661400-179674200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:179661800-179673800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:179663400-179672200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:179664400-179677000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr5:179665800-179696600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:179666000-179697000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr5:179666400-179674600	Strong transcription	A549	lung
32	chr5:179667200-179672800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr5:179667600-179672200	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr5:179667600-179672800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr5:179667600-179673000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr5:179667600-179673600	Weak transcription	NHDF-Ad	bronchial
37	chr5:179667800-179674200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:179668000-179673600	Weak transcription	HSMMtube	muscle
39	chr5:179668000-179674200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:179668000-179674400	Weak transcription	Brain Angular Gyrus	brain
41	chr5:179668000-179678400	Weak transcription	Brain Substantia Nigra	brain
42	chr5:179668200-179673200	Weak transcription	NH-A	brain
43	chr5:179668200-179673600	Weak transcription	Fetal Lung	lung
44	chr5:179668200-179674400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:179668200-179674400	Weak transcription	NHLF	lung
46	chr5:179668200-179696800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
47	chr5:179668400-179673600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:179668800-179673600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:179669000-179673600	Weak transcription	Brain Anterior Caudate	brain
50	chr5:179669000-179674200	Weak transcription	HepG2	liver

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