Variant report

Variant	rs1833560
Chromosome Location	chr5:112255072-112255073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112254440..112257035-chr5:112267383..112269669,3	K562	blood:
2	chr5:112253961..112259306-chr5:112310933..112315767,8	K562	blood:
3	chr5:112254019..112256413-chr5:112263500..112265377,2	MCF-7	breast:
4	chr5:112132025..112134986-chr5:112254619..112257174,2	K562	blood:
5	chr5:112253073..112255997-chr5:112284078..112285645,2	K562	blood:
6	chr5:112253344..112255730-chr5:112269581..112271953,2	MCF-7	breast:
7	chr5:112243328..112246108-chr5:112252960..112255177,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172795	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10064080	0.80[ASN][1000 genomes]
rs13360667	0.80[ASN][1000 genomes]
rs17135067	0.80[EUR][1000 genomes]
rs17135193	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17290064	0.80[EUR][1000 genomes]
rs17310536	0.86[EUR][1000 genomes]
rs17311019	0.86[EUR][1000 genomes]
rs17311096	0.86[EUR][1000 genomes]
rs17359859	0.80[EUR][1000 genomes]
rs17360045	0.80[EUR][1000 genomes]
rs17369211	0.86[EUR][1000 genomes]
rs17369487	0.86[EUR][1000 genomes]
rs17370550	0.93[EUR][1000 genomes]
rs17371015	0.93[EUR][1000 genomes]
rs28789211	0.80[ASN][1000 genomes]
rs3892986	0.86[ASN][1000 genomes]
rs3962814	0.83[ASN][1000 genomes]
rs55684649	0.80[EUR][1000 genomes]
rs55771309	0.81[EUR][1000 genomes]
rs55771959	0.80[EUR][1000 genomes]
rs55798475	0.86[EUR][1000 genomes]
rs56155803	0.81[EUR][1000 genomes]
rs56194248	0.80[EUR][1000 genomes]
rs56218335	0.80[EUR][1000 genomes]
rs56320268	0.80[EUR][1000 genomes]
rs56321569	0.93[EUR][1000 genomes]
rs56328836	0.80[EUR][1000 genomes]
rs57043077	0.80[EUR][1000 genomes]
rs57749964	0.89[ASN][1000 genomes]
rs58775131	0.88[ASN][1000 genomes]
rs59349522	0.95[ASN][1000 genomes]
rs6864647	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs728344	0.86[ASN][1000 genomes]
rs73220038	0.80[EUR][1000 genomes]
rs73227370	0.86[ASN][1000 genomes]
rs73227382	0.89[ASN][1000 genomes]
rs73227383	0.86[ASN][1000 genomes]
rs7728766	0.93[EUR][1000 genomes]
rs7730241	0.98[ASN][1000 genomes]
rs7730441	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1030103	chr5:112197662-112255712	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv537863	chr5:112197662-112255712	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv2763866	chr5:112254282-112284223	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:112223000-112256400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:112223000-112256600	Weak transcription	Thymus	Thymus
8	chr5:112229600-112256600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:112242600-112256800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:112247800-112255800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:112248000-112255600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:112248200-112255600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:112248400-112256000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:112249400-112255600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:112250800-112255400	Strong transcription	HMEC	breast
16	chr5:112251000-112256000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr5:112251200-112255800	Strong transcription	A549	lung
18	chr5:112251200-112256000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:112251200-112256000	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr5:112251200-112256200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:112251400-112255600	Genic enhancers	Dnd41	blood
22	chr5:112251400-112255800	Strong transcription	Fetal Stomach	stomach
23	chr5:112251400-112256000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:112251400-112256000	Genic enhancers	Monocytes-CD14+_RO01746	blood
25	chr5:112251600-112255600	Strong transcription	NH-A	brain
26	chr5:112251600-112256000	Genic enhancers	Primary B cells from cord blood	blood
27	chr5:112251600-112256200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:112251600-112256200	Genic enhancers	Adipose Nuclei	Adipose
29	chr5:112251600-112256400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr5:112251800-112255400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:112251800-112255400	Genic enhancers	Brain Anterior Caudate	brain
32	chr5:112251800-112255600	Genic enhancers	Left Ventricle	heart
33	chr5:112251800-112256000	Genic enhancers	Primary monocytes fromperipheralblood	blood
34	chr5:112252000-112255200	Genic enhancers	Fetal Brain Female	brain
35	chr5:112252000-112255400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:112252000-112255800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:112252200-112255200	Strong transcription	HUVEC	blood vessel
38	chr5:112252200-112255600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:112252600-112255800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:112252800-112255200	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr5:112252800-112255400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:112252800-112255400	Genic enhancers	Lung	lung
43	chr5:112252800-112255400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
44	chr5:112252800-112255600	Strong transcription	Fetal Intestine Small	intestine
45	chr5:112252800-112255600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
46	chr5:112252800-112255800	Genic enhancers	HepG2	liver
47	chr5:112253000-112256000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:112253000-112256600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr5:112253200-112255400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:112253200-112255400	Genic enhancers	Pancreas	Pancrea

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