Variant report

Variant	rs4652549
Chromosome Location	chr1:180975032-180975033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180970620..180972519-chr1:180973045..180976019,2	K562	blood:
2	chr1:180970472..180977735-chr1:180989614..180993655,8	MCF-7	breast:
3	chr1:180974639..180977645-chr1:181057239..181059965,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162783	Chromatin interaction
ENSG00000135823	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10797664	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10910848	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10910849	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10910850	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589765	0.80[AMR][1000 genomes]
rs12073184	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12411105	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565758	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35672928	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3930261	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4545301	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3383831	chr1:180937224-181029755	Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1011081	chr1:180973159-181135953	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180940400-180988400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:180943600-180979800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:180959200-180990800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:180959800-180979800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:180960600-180985200	Weak transcription	Stomach Mucosa	stomach
6	chr1:180960800-180979800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:180961400-180979800	Weak transcription	NH-A	brain
8	chr1:180964000-180980400	Weak transcription	Fetal Heart	heart
9	chr1:180964400-180975200	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:180967000-180975200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:180967400-180975600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:180968800-180976800	Strong transcription	Primary B cells from cord blood	blood
13	chr1:180970600-180975200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:180970600-180975400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:180972200-180975200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:180972400-180979400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:180972600-180976400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:180973000-180980000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:180973400-180981000	Weak transcription	Fetal Kidney	kidney
20	chr1:180973600-180979000	Weak transcription	NHDF-Ad	bronchial
21	chr1:180973600-180980000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:180973800-180979000	Weak transcription	HSMMtube	muscle
23	chr1:180973800-180981200	Weak transcription	Aorta	Aorta
24	chr1:180973800-180982400	Weak transcription	Spleen	Spleen
25	chr1:180973800-180988200	Weak transcription	Fetal Brain Male	brain
26	chr1:180973800-180989600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:180973800-180990600	Weak transcription	Colonic Mucosa	Colon
28	chr1:180973800-180990800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:180974000-180977000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:180974000-180978600	Weak transcription	Adipose Nuclei	Adipose
31	chr1:180974000-180979200	Weak transcription	NHLF	lung
32	chr1:180974000-180979400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:180974000-180979400	Weak transcription	Placenta	Placenta
34	chr1:180974000-180979600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:180974000-180979600	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:180974000-180979800	Weak transcription	Ovary	ovary
37	chr1:180974000-180979800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:180974000-180979800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:180974000-180979800	Weak transcription	HSMM	muscle
40	chr1:180974000-180980800	Weak transcription	Lung	lung
41	chr1:180974000-180990800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:180974200-180978600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:180974200-180980000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:180974200-180980000	Weak transcription	Brain Angular Gyrus	brain
45	chr1:180974200-180980200	Weak transcription	Fetal Brain Female	brain
46	chr1:180974400-180990000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:180974600-180975600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:180974600-180976600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:180974600-180978800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:180974600-180978800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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