Variant report

Variant	rs8055329
Chromosome Location	chr16:75694016-75694017
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75691958..75693608-chr16:75693696..75696714,3	MCF-7	breast:
2	chr16:75689969..75691811-chr16:75693985..75695587,2	K562	blood:
3	chr16:75689525..75691811-chr16:75693504..75695587,3	K562	blood:

Variant related genes	Relation type
ENSG00000166848	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10871314	0.87[EUR][1000 genomes]
rs12443899	0.81[EUR][1000 genomes]
rs12445389	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12445937	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12446652	0.84[AMR][1000 genomes]
rs12595883	0.88[EUR][1000 genomes]
rs12596033	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12596083	0.81[EUR][1000 genomes]
rs12596724	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12598094	0.84[AMR][1000 genomes]
rs12598741	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12598751	0.94[EUR][1000 genomes]
rs12599212	0.88[EUR][1000 genomes]
rs12599322	0.84[AMR][1000 genomes]
rs12600066	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12600271	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17697211	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17764821	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17764918	0.87[EUR][1000 genomes]
rs1812507	0.88[EUR][1000 genomes]
rs1836547	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1865493	0.84[ASN][1000 genomes]
rs1979717	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2164245	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2242406	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2278469	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2289063	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2903096	0.87[EUR][1000 genomes]
rs3743599	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3743601	0.87[EUR][1000 genomes]
rs3743603	0.84[AMR][1000 genomes]
rs3851741	0.82[EUR][1000 genomes]
rs4887835	0.87[EUR][1000 genomes]
rs4887836	0.87[EUR][1000 genomes]
rs4887837	0.87[EUR][1000 genomes]
rs4888436	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888437	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888440	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4888442	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888444	0.93[EUR][1000 genomes]
rs4888448	0.84[EUR][1000 genomes]
rs4888449	0.87[EUR][1000 genomes]
rs4888451	0.87[EUR][1000 genomes]
rs4888455	0.81[EUR][1000 genomes]
rs56954102	0.81[EUR][1000 genomes]
rs57208266	0.87[EUR][1000 genomes]
rs58091977	0.87[EUR][1000 genomes]
rs58273293	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58508930	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58533792	0.87[EUR][1000 genomes]
rs58597869	0.83[AMR][1000 genomes]
rs58719566	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58846463	0.87[EUR][1000 genomes]
rs59449831	0.87[EUR][1000 genomes]
rs60393074	0.84[AMR][1000 genomes]
rs60952428	0.84[AMR][1000 genomes]
rs61036571	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61183686	0.81[EUR][1000 genomes]
rs61537885	0.94[EUR][1000 genomes]
rs6564268	0.84[AMR][1000 genomes]
rs7187419	0.87[EUR][1000 genomes]
rs7187672	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7193066	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7195338	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs719574	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7206799	0.88[EUR][1000 genomes]
rs7499759	0.83[AMR][1000 genomes]
rs8051713	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8056968	0.83[AMR][1000 genomes]
rs8192516	0.83[AMR][1000 genomes]
rs963820	0.86[AMR][1000 genomes]
rs9788802	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75684600-75695400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:75686200-75694400	Weak transcription	Right Atrium	heart
3	chr16:75686400-75695800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:75686600-75695200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:75687000-75695400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr16:75687400-75696000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr16:75687600-75694200	Strong transcription	Fetal Muscle Leg	muscle
8	chr16:75687600-75694600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:75687600-75695600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:75687600-75696000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:75687600-75696000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr16:75687600-75696400	Strong transcription	Primary B cells from cord blood	blood
13	chr16:75687600-75696400	Strong transcription	Fetal Stomach	stomach
14	chr16:75687800-75694200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr16:75687800-75694600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr16:75687800-75694800	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:75687800-75695400	Strong transcription	Fetal Thymus	thymus
18	chr16:75687800-75695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:75687800-75696200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:75687800-75696200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:75688000-75694200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr16:75688000-75694800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr16:75688000-75695200	Strong transcription	Liver	Liver
24	chr16:75688000-75695200	Strong transcription	GM12878-XiMat	blood
25	chr16:75688000-75695800	Strong transcription	Placenta	Placenta
26	chr16:75688200-75695800	Strong transcription	Primary T cells from cord blood	blood
27	chr16:75688200-75696000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr16:75688200-75696000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr16:75688400-75694200	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr16:75688400-75695600	Strong transcription	Primary hematopoietic stem cells	blood
31	chr16:75688400-75695600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:75688400-75695800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:75688400-75696000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr16:75688400-75696000	Strong transcription	NHDF-Ad	bronchial
35	chr16:75688600-75694600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:75688600-75695600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:75688600-75696400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr16:75689400-75695000	Strong transcription	Spleen	Spleen
39	chr16:75689400-75696000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr16:75690600-75695200	Weak transcription	Aorta	Aorta
41	chr16:75690600-75697000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr16:75691400-75695000	Strong transcription	Fetal Intestine Small	intestine
43	chr16:75691400-75696000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:75691600-75695400	Weak transcription	Fetal Heart	heart
45	chr16:75691800-75694800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:75691800-75697000	Weak transcription	Fetal Kidney	kidney
47	chr16:75691800-75697200	Weak transcription	Fetal Brain Male	brain
48	chr16:75692000-75695200	Weak transcription	Small Intestine	intestine
49	chr16:75692200-75697000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr16:75692200-75697000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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