Variant report

Variant	rs72607857
Chromosome Location	chr4:77889698-77889699
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77886236..77888366-chr4:77888596..77892615,3	K562	blood:
2	chr4:77889376..77894977-chr4:77900561..77905998,5	MCF-7	breast:
3	chr4:77869847..77872649-chr4:77888817..77891045,3	K562	blood:
4	chr4:77884853..77887082-chr4:77888550..77891018,2	MCF-7	breast:
5	chr4:77888598..77890964-chr4:77928304..77930541,2	K562	blood:
6	chr4:77868953..77873083-chr4:77887736..77890644,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138758	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1532449	0.83[EUR][1000 genomes]
rs2645669	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645671	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645698	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2645702	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703103	0.83[EUR][1000 genomes]
rs6822843	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72607858	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72607860	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73826488	0.83[EUR][1000 genomes]
rs7696359	1.00[EUR][1000 genomes]
rs904045	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1810313	chr4:77778670-77902099	Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77872600-77890800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:77872600-77894400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:77872600-77899200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:77872600-77900400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:77873000-77899200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:77873400-77894200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:77873400-77894400	Weak transcription	NHEK	skin
8	chr4:77874400-77891000	Weak transcription	K562	blood
9	chr4:77876000-77895200	Weak transcription	Aorta	Aorta
10	chr4:77876400-77891200	Weak transcription	HUVEC	blood vessel
11	chr4:77876600-77895400	Weak transcription	Right Atrium	heart
12	chr4:77876800-77906000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:77877800-77890400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:77878000-77890400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:77878400-77890600	Weak transcription	Ovary	ovary
16	chr4:77878800-77899200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:77879000-77893600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:77879000-77894400	Weak transcription	Fetal Stomach	stomach
19	chr4:77879000-77898400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:77879600-77893400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:77879600-77894200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:77879600-77904200	Weak transcription	Gastric	stomach
23	chr4:77881200-77889800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:77881600-77891200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:77881600-77899200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:77881800-77889800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:77882200-77893000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:77882200-77905200	Weak transcription	Fetal Intestine Large	intestine
29	chr4:77882400-77893400	Weak transcription	NH-A	brain
30	chr4:77884000-77891200	Weak transcription	Brain Germinal Matrix	brain
31	chr4:77884200-77891000	Weak transcription	Fetal Brain Female	brain
32	chr4:77884200-77893200	Weak transcription	NHLF	lung
33	chr4:77884200-77894400	Weak transcription	Fetal Intestine Small	intestine
34	chr4:77884600-77890000	Weak transcription	Fetal Kidney	kidney
35	chr4:77884600-77893200	Weak transcription	Fetal Brain Male	brain
36	chr4:77884600-77893600	Weak transcription	Fetal Lung	lung
37	chr4:77884800-77893600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:77884800-77899200	Weak transcription	Placenta	Placenta
39	chr4:77884800-77899200	Weak transcription	Small Intestine	intestine
40	chr4:77884800-77904200	Weak transcription	Pancreas	Pancrea
41	chr4:77886000-77893000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:77886000-77893200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:77886000-77895000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:77886200-77890200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:77886200-77891000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:77886200-77891200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:77886200-77891200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:77886200-77895000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:77886200-77898200	Weak transcription	Primary T cells from cord blood	blood
50	chr4:77886200-77898200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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