Variant report

Variant	rs72685363
Chromosome Location	chr1:78435892-78435893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78434019..78436134-chr1:78467540..78469438,2	MCF-7	breast:
2	chr1:78435772..78437977-chr1:78438825..78441558,2	MCF-7	breast:
3	chr1:78427480..78429581-chr1:78433506..78436047,2	MCF-7	breast:
4	chr1:78430857..78433275-chr1:78433917..78436532,2	MCF-7	breast:
5	chr1:78432055..78439376-chr1:78440995..78447364,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137960	Chromatin interaction
ENSG00000162616	Chromatin interaction
ENSG00000162613	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1039863	0.90[ASN][1000 genomes]
rs10873961	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10873962	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10873963	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11162401	1.00[ASN][1000 genomes]
rs1166696	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1166699	0.93[ASN][1000 genomes]
rs1166700	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11805942	1.00[ASN][1000 genomes]
rs11806130	0.98[ASN][1000 genomes]
rs11811805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1510244	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17101101	1.00[ASN][1000 genomes]
rs1749911	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1749913	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1780044	0.93[ASN][1000 genomes]
rs1780045	0.93[ASN][1000 genomes]
rs1780047	0.93[ASN][1000 genomes]
rs1780048	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1780052	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2296452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296454	1.00[ASN][1000 genomes]
rs3736909	1.00[ASN][1000 genomes]
rs3767024	1.00[ASN][1000 genomes]
rs3767025	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4083559	0.90[ASN][1000 genomes]
rs4107671	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4483454	0.93[ASN][1000 genomes]
rs4543852	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6424648	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6424653	0.90[ASN][1000 genomes]
rs6680447	0.86[ASN][1000 genomes]
rs6699513	0.81[ASN][1000 genomes]
rs6702465	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72685364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72685368	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7520255	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7523874	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7524504	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9661687	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9662129	0.93[ASN][1000 genomes]
rs9729146	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv518855	chr1:78416669-78456355	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78405800-78442200	Strong transcription	Fetal Thymus	thymus
2	chr1:78406000-78436200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:78406600-78436200	Strong transcription	Liver	Liver
4	chr1:78406600-78440600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:78406800-78436400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:78407000-78437200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:78407400-78436600	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr1:78407400-78437600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:78407400-78437800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr1:78407600-78437200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:78407800-78436800	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr1:78407800-78437200	Strong transcription	Placenta	Placenta
13	chr1:78408000-78437600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:78408400-78436400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr1:78408400-78439600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:78408600-78437000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:78409600-78437200	Strong transcription	Hela-S3	cervix
18	chr1:78411800-78438200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:78415000-78437200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:78415800-78436400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:78415800-78436800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:78415800-78437600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:78415800-78440200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:78416400-78437400	Strong transcription	K562	blood
25	chr1:78416400-78438200	Strong transcription	HMEC	breast
26	chr1:78417200-78438000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:78417800-78437400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:78418000-78436600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:78418400-78438000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:78418400-78438200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr1:78418400-78440800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:78420800-78438200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:78421200-78437800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:78421600-78436200	Strong transcription	HSMM	muscle
35	chr1:78424600-78440600	Weak transcription	Stomach Mucosa	stomach
36	chr1:78426200-78436600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:78426400-78439600	Weak transcription	Spleen	Spleen
38	chr1:78427600-78436800	Strong transcription	NH-A	brain
39	chr1:78428000-78437200	Strong transcription	HepG2	liver
40	chr1:78428200-78436000	Strong transcription	Osteobl	bone
41	chr1:78428600-78438200	Strong transcription	Fetal Intestine Large	intestine
42	chr1:78428800-78437400	Weak transcription	Right Ventricle	heart
43	chr1:78429600-78441800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:78430200-78438600	Strong transcription	NHEK	skin
45	chr1:78430800-78436400	Weak transcription	Small Intestine	intestine
46	chr1:78430800-78440800	Weak transcription	Psoas Muscle	Psoas
47	chr1:78431600-78436000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr1:78432200-78436000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:78432200-78436400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:78432200-78436400	Weak transcription	Gastric	stomach

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