Variant report

Variant	rs72708661
Chromosome Location	chr1:179878189-179878190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179870344..179874512-chr1:179875182..179879064,5	K562	blood:
2	chr1:179877736..179879361-chr1:179907717..179909785,2	K562	blood:
3	chr1:179867675..179869971-chr1:179874720..179878392,3	K562	blood:
4	chr1:179870344..179873386-chr1:179876338..179880165,3	K562	blood:

Variant related genes	Relation type
ENSG00000264916	Chromatin interaction
ENSG00000143337	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1048418	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10494523	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10913894	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10913895	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10913905	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913909	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119431	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12121694	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12126625	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12136091	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136465	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143942	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144991	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16854910	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845388	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301600	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61740391	0.92[EUR][1000 genomes]
rs6425596	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6659939	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6673144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708662	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527215	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7531195	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7545581	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7549317	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9726605	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv429947	chr1:179790518-179925104	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats 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	48 gene(s)	inside rSNPs	diseases
4	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 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	chr1:179853000-179884800	Weak transcription	Esophagus	oesophagus
2	chr1:179853000-179890400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:179853200-179886600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:179853200-179890800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:179853400-179878200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:179853400-179882800	Weak transcription	Fetal Brain Male	brain
7	chr1:179854000-179886800	Weak transcription	Fetal Heart	heart
8	chr1:179857600-179886800	Weak transcription	Psoas Muscle	Psoas
9	chr1:179860200-179890200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:179860400-179878800	Weak transcription	Colonic Mucosa	Colon
11	chr1:179861200-179886600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:179861400-179882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:179861600-179886600	Weak transcription	Pancreas	Pancrea
14	chr1:179867200-179886600	Weak transcription	Small Intestine	intestine
15	chr1:179867400-179897200	Weak transcription	Stomach Mucosa	stomach
16	chr1:179868200-179879800	Strong transcription	Stomach Smooth Muscle	stomach
17	chr1:179868200-179880800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:179868200-179891600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr1:179868200-179891800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr1:179868400-179880600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:179868400-179880600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:179868400-179888800	Strong transcription	Adipose Nuclei	Adipose
23	chr1:179868400-179890600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:179868400-179890800	Strong transcription	Dnd41	blood
25	chr1:179868600-179891600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:179868600-179892000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:179868800-179889000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:179868800-179889200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:179868800-179889600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:179869000-179879000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr1:179869000-179888200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:179869200-179879600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:179869200-179879600	Strong transcription	Fetal Muscle Leg	muscle
34	chr1:179869200-179880400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:179869200-179881000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:179869200-179885600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:179869200-179891600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:179869400-179880000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:179869400-179880400	Strong transcription	Osteobl	bone
40	chr1:179869400-179881000	Strong transcription	Colon Smooth Muscle	Colon
41	chr1:179869400-179889600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:179869400-179891400	Strong transcription	Liver	Liver
43	chr1:179869600-179880400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:179870000-179890400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:179871200-179879200	Strong transcription	Fetal Intestine Small	intestine
46	chr1:179871200-179879800	Strong transcription	Fetal Thymus	thymus
47	chr1:179871200-179891000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:179871600-179880800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:179872000-179886600	Weak transcription	Brain Angular Gyrus	brain
50	chr1:179873200-179878400	Weak transcription	GM12878-XiMat	blood

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