Variant report

Variant	rs11955223
Chromosome Location	chr5:179668708-179668709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17627593	0.93[CHB][hapmap];0.96[YRI][hapmap]
rs4362908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[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];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56131100	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs58528869	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61478999	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6601104	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6703	0.93[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6860142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896513	0.93[CHB][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs7710896	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7724543	0.87[CHB][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap]
rs7726664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9605	0.93[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.90[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	chr5:179650200-179669000	Weak transcription	Fetal Brain Male	brain
2	chr5:179651600-179678000	Weak transcription	Fetal Heart	heart
3	chr5:179653600-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:179655000-179679600	Weak transcription	Stomach Mucosa	stomach
5	chr5:179655400-179712600	ZNF genes & repeats	Liver	Liver
6	chr5:179655800-179675400	Strong transcription	Primary B cells from cord blood	blood
7	chr5:179656200-179675000	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:179656600-179703000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr5:179657400-179669200	Strong transcription	Fetal Stomach	stomach
10	chr5:179657400-179669200	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:179657400-179673600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:179657400-179674400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:179657800-179674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:179657800-179697000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:179658400-179669600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:179658400-179670600	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:179658400-179670800	Strong transcription	Fetal Muscle Leg	muscle
18	chr5:179658400-179672600	Strong transcription	Thymus	Thymus
19	chr5:179658400-179679200	Strong transcription	Primary T cells from cord blood	blood
20	chr5:179658800-179680400	Weak transcription	Fetal Kidney	kidney
21	chr5:179659000-179669800	Strong transcription	Placenta	Placenta
22	chr5:179659000-179670800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:179659000-179677600	Strong transcription	Dnd41	blood
24	chr5:179659200-179668800	Weak transcription	K562	blood
25	chr5:179659200-179670000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:179659200-179672600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:179659200-179674200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr5:179659400-179674800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:179659600-179674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:179660000-179669600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr5:179660000-179670800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr5:179660200-179669000	Strong transcription	Brain Anterior Caudate	brain
33	chr5:179660200-179669800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:179660200-179669800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:179660200-179670000	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr5:179660200-179671200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:179660200-179671400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:179660200-179672800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:179660200-179679800	Weak transcription	HUVEC	blood vessel
40	chr5:179660400-179669200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
41	chr5:179660400-179677600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr5:179660600-179670600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:179660600-179670800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr5:179660600-179671800	Weak transcription	HMEC	breast
45	chr5:179660800-179669800	Strong transcription	Osteobl	bone
46	chr5:179660800-179670200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr5:179660800-179671800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:179660800-179672000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:179660800-179706800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:179661000-179669000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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