Variant report

Variant	rs72679004
Chromosome Location	chr4:119611445-119611446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119610419..119612181-chr4:119612941..119614649,2	K562	blood:
2	chr4:119608875..119611520-chr4:119620589..119622906,3	K562	blood:
3	chr4:119603589..119605828-chr4:119610331..119611922,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145388	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11724866	0.85[AMR][1000 genomes]
rs11945703	0.84[AMR][1000 genomes]
rs12640223	0.85[AMR][1000 genomes]
rs12646268	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12646298	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12648682	0.84[AMR][1000 genomes]
rs12648778	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13111664	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13115157	0.85[AMR][1000 genomes]
rs13124091	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13146440	0.82[AMR][1000 genomes]
rs13146816	0.81[AMR][1000 genomes]
rs2046779	0.82[AMR][1000 genomes]
rs3087958	0.85[AMR][1000 genomes]
rs34091082	0.82[AMR][1000 genomes]
rs34508500	0.82[AMR][1000 genomes]
rs35023705	0.84[AMR][1000 genomes]
rs35392662	0.82[AMR][1000 genomes]
rs35404779	0.82[AMR][1000 genomes]
rs35522890	0.85[AMR][1000 genomes]
rs35613641	0.84[AMR][1000 genomes]
rs35952841	0.85[AMR][1000 genomes]
rs36023173	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3733517	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs66500248	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs66942289	0.84[AMR][1000 genomes]
rs67151421	0.84[AMR][1000 genomes]
rs67989872	0.82[AMR][1000 genomes]
rs6813357	0.84[AMR][1000 genomes]
rs6814447	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6817790	0.85[AMR][1000 genomes]
rs6818241	0.85[AMR][1000 genomes]
rs6821350	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6831197	0.85[AMR][1000 genomes]
rs6836005	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6837652	0.85[AMR][1000 genomes]
rs6847706	0.82[AMR][1000 genomes]
rs6852706	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6855919	0.85[AMR][1000 genomes]
rs6857285	0.82[AMR][1000 genomes]
rs71610228	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72679023	0.82[AMR][1000 genomes]
rs7653962	0.82[AMR][1000 genomes]
rs7692721	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7695602	0.82[AMR][1000 genomes]
rs7696543	0.82[AMR][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72679004	RP11-384K6.6	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607000-119644800	Weak transcription	Small Intestine	intestine
2	chr4:119607200-119615800	Weak transcription	Esophagus	oesophagus
3	chr4:119607200-119659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:119607400-119613200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:119607600-119613000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:119607600-119615800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:119607800-119613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:119607800-119615800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:119607800-119615800	Weak transcription	Psoas Muscle	Psoas
10	chr4:119607800-119618000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:119607800-119625600	Weak transcription	Aorta	Aorta
12	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:119608000-119618800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:119608000-119645000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:119608400-119612000	Weak transcription	HSMM	muscle
16	chr4:119608400-119612600	Weak transcription	NHDF-Ad	bronchial
17	chr4:119608400-119613200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:119608400-119613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:119608400-119613600	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:119608400-119613800	Weak transcription	Brain Germinal Matrix	brain
21	chr4:119608400-119615600	Weak transcription	A549	lung
22	chr4:119608400-119615800	Weak transcription	NHLF	lung
23	chr4:119608400-119618600	Weak transcription	Brain Substantia Nigra	brain
24	chr4:119608600-119612600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr4:119608600-119612800	Weak transcription	K562	blood
26	chr4:119608600-119618400	Weak transcription	Colonic Mucosa	Colon
27	chr4:119608600-119635200	Strong transcription	Fetal Thymus	thymus
28	chr4:119608600-119635800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach
30	chr4:119608800-119611600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr4:119608800-119613000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:119608800-119613200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:119608800-119613200	Weak transcription	GM12878-XiMat	blood
34	chr4:119608800-119613600	Weak transcription	Brain Angular Gyrus	brain
35	chr4:119608800-119613800	Weak transcription	HMEC	breast
36	chr4:119608800-119618000	Weak transcription	Hela-S3	cervix
37	chr4:119608800-119625400	Weak transcription	HSMMtube	muscle
38	chr4:119608800-119635000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:119609000-119611600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr4:119609000-119611800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:119609000-119611800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:119609000-119611800	Strong transcription	Fetal Muscle Leg	muscle
43	chr4:119609000-119612000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:119609000-119612000	Strong transcription	Fetal Stomach	stomach
45	chr4:119609000-119614600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:119609000-119614600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:119609000-119615600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr4:119609000-119620000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:119609000-119620400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr4:119609000-119620800	Strong transcription	Liver	Liver

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