Variant report

Variant	rs9329083
Chromosome Location	chr5:179001200-179001201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179001067..179003316-chr5:179026144..179027789,2	MCF-7	breast:
2	chr5:178989647..178992005-chr5:179000001..179001767,2	K562	blood:
3	chr5:178984119..178986610-chr5:178999493..179002273,3	K562	blood:
4	chr5:178996663..178999644-chr5:179000508..179002723,3	K562	blood:
5	chr5:178997303..179000137-chr5:179000501..179003984,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249140	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10036118	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057868	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059134	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064557	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11249645	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249646	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11743261	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521172	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522890	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13361148	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28510162	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28607444	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28611242	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075890	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075891	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700810	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4701134	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6601052	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7378831	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7447429	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9329084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
5	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
6	nsv1022509	chr5:178950829-179002751	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
9	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1028236	chr5:178962087-179019981	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:178987400-179013200	Strong transcription	Fetal Stomach	stomach
3	chr5:178987400-179019800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
5	chr5:178987800-179006600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:178987800-179006800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:178987800-179009600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:178987800-179012200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:178987800-179017000	Strong transcription	Osteobl	bone
10	chr5:178987800-179031000	Strong transcription	Fetal Muscle Leg	muscle
11	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:178988000-179004600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:178988000-179006800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:178988000-179009600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:178988200-179003400	Strong transcription	Placenta	Placenta
16	chr5:178988400-179002800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:178988400-179006200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:178988400-179006600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:178988400-179010200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:178988800-179003200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr5:178989000-179003400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr5:178989000-179003600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr5:178989000-179006200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr5:178989000-179006600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:178989000-179010200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:178989200-179006200	Strong transcription	Fetal Thymus	thymus
27	chr5:178989200-179006600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:178989400-179003400	Strong transcription	Primary B cells from cord blood	blood
29	chr5:178989400-179006600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr5:178989600-179001200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:178989600-179006200	Strong transcription	Thymus	Thymus
32	chr5:178989600-179006400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:178991200-179016600	Weak transcription	Stomach Mucosa	stomach
34	chr5:178992200-179001600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:178994200-179006200	Strong transcription	Fetal Brain Female	brain
36	chr5:178994400-179001200	Strong transcription	Brain Cingulate Gyrus	brain
37	chr5:178994400-179003600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:178995600-179001400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:178995800-179003200	Strong transcription	Left Ventricle	heart
40	chr5:178996200-179006600	Strong transcription	Adipose Nuclei	Adipose
41	chr5:178996200-179022600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:178996600-179002200	Weak transcription	K562	blood
43	chr5:178996600-179002400	Weak transcription	Fetal Brain Male	brain
44	chr5:178996600-179013200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:178996800-179004400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:178996800-179034000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr5:178997000-179002200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:178997600-179002000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:178997600-179012800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr5:178997600-179020200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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