Variant report

Variant	rs60104959
Chromosome Location	chr5:179036268-179036269
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179034167..179038139-chr5:179125249..179127406,3	MCF-7	breast:
2	chr5:179011616..179013589-chr5:179034982..179036835,2	K562	blood:
3	chr5:179032616..179037685-chr5:179101606..179106447,5	K562	blood:
4	chr5:179001446..179003213-chr5:179035112..179037785,2	K562	blood:
5	chr5:178977786..178979426-chr5:179034377..179036476,2	MCF-7	breast:
6	chr5:179034995..179037887-chr5:179124544..179128614,3	K562	blood:
7	chr5:179017199..179019587-chr5:179035470..179037928,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225051	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000127022	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10479544	0.84[ASN][1000 genomes]
rs11958537	0.82[ASN][1000 genomes]
rs12188476	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514650	0.88[ASN][1000 genomes]
rs12518041	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519803	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17355294	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28533619	0.83[ASN][1000 genomes]
rs4128628	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128629	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4535419	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4701133	0.83[ASN][1000 genomes]
rs55696570	0.85[ASN][1000 genomes]
rs55741920	0.85[ASN][1000 genomes]
rs55821473	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55837909	0.82[ASN][1000 genomes]
rs56198018	0.83[ASN][1000 genomes]
rs56370020	0.92[ASN][1000 genomes]
rs58788190	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61408162	1.00[ASN][1000 genomes]
rs62392796	0.88[ASN][1000 genomes]
rs6874476	0.85[ASN][1000 genomes]
rs72824554	1.00[ASN][1000 genomes]
rs7442819	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7706115	0.83[ASN][1000 genomes]
rs7710813	0.83[ASN][1000 genomes]
rs7715391	0.84[ASN][1000 genomes]
rs7732888	0.81[ASN][1000 genomes]

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	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
2	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
3	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
4	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
5	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

No data

Chromatin state (count:127 , 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	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
3	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:179002200-179045600	Strong transcription	Fetal Intestine Large	intestine
5	chr5:179007400-179037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:179007400-179040200	Strong transcription	Placenta	Placenta
7	chr5:179007400-179045000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:179011000-179045600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:179011200-179039000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:179011200-179043800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:179012400-179036400	Strong transcription	Lung	lung
12	chr5:179012600-179037600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:179012600-179047000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr5:179012800-179039000	Strong transcription	Left Ventricle	heart
15	chr5:179012800-179040000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr5:179013600-179037800	Strong transcription	Fetal Stomach	stomach
17	chr5:179013800-179044800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:179014000-179042000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:179014000-179044400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:179014000-179046000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:179016000-179041800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:179016200-179045000	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr5:179023200-179037800	Weak transcription	Fetal Heart	heart
24	chr5:179023400-179037800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:179025200-179045000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:179026600-179036800	Weak transcription	K562	blood
27	chr5:179026600-179040600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:179027600-179039600	Weak transcription	Small Intestine	intestine
29	chr5:179028200-179046200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr5:179028400-179046000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr5:179028600-179046200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:179028800-179037800	Strong transcription	NHLF	lung
33	chr5:179028800-179045000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr5:179029000-179038800	Strong transcription	Fetal Lung	lung
35	chr5:179029200-179045600	Strong transcription	Primary B cells from cord blood	blood
36	chr5:179030000-179037400	Weak transcription	Psoas Muscle	Psoas
37	chr5:179030000-179040800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:179030600-179036800	Weak transcription	HSMMtube	muscle
39	chr5:179031000-179041000	Genic enhancers	Fetal Muscle Leg	muscle
40	chr5:179031000-179045600	Strong transcription	Osteobl	bone
41	chr5:179031000-179046200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr5:179031200-179036400	Strong transcription	Spleen	Spleen
43	chr5:179032200-179038800	Strong transcription	Pancreas	Pancrea
44	chr5:179032200-179039200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr5:179032200-179045800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:179032200-179046400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:179032400-179038400	Strong transcription	HepG2	liver
48	chr5:179032400-179039800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
49	chr5:179032400-179045600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:179032400-179047400	Strong transcription	H9 Cell Line	embryonic stem cell

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