Variant report

Variant	rs72664341
Chromosome Location	chr1:56990753-56990754
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17114036	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17114046	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2404715	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4634932	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55694910	0.85[EUR][1000 genomes]
rs55869368	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56170783	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186267	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56322312	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56348932	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664303	0.82[EUR][1000 genomes]
rs72664304	0.82[EUR][1000 genomes]
rs72664318	0.95[EUR][1000 genomes]
rs72664324	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72664332	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664335	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664353	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664354	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664355	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664358	0.91[ASN][1000 genomes]
rs9970807	0.98[EUR][1000 genomes];0.90[ASN][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56972400-56990800	Strong transcription	HSMM	muscle
3	chr1:56976400-56991600	Strong transcription	Fetal Stomach	stomach
4	chr1:56976800-56992400	Weak transcription	Brain Germinal Matrix	brain
5	chr1:56977800-56991200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:56977800-56999200	Weak transcription	A549	lung
7	chr1:56978000-56991400	Weak transcription	Fetal Brain Male	brain
8	chr1:56978000-56992600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:56979200-56992600	Strong transcription	HepG2	liver
10	chr1:56980600-56991600	Genic enhancers	Left Ventricle	heart
11	chr1:56983200-56991200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr1:56983200-56991400	Strong transcription	Osteobl	bone
13	chr1:56983200-56992400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:56983400-56992200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:56983400-57000800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:56983600-56991200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:56983800-56991000	Strong transcription	Fetal Intestine Large	intestine
18	chr1:56983800-56991200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:56984200-56992000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:56984200-56992200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:56984200-56992400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:56985000-56993400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:56985000-56993600	Weak transcription	Fetal Brain Female	brain
24	chr1:56985400-56991400	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr1:56986000-56991600	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:56986200-56990800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr1:56986200-56992600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:56986400-56990800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:56986400-56991000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:56986800-56990800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:56986800-56992000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:56987000-56990800	Strong transcription	NHLF	lung
33	chr1:56987000-56991000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr1:56987000-56991400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:56987000-56991800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
37	chr1:56987400-56991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:56987600-56990800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:56987600-56991000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:56987600-56994200	Enhancers	Dnd41	blood
41	chr1:56987800-56990800	Strong transcription	Fetal Kidney	kidney
42	chr1:56987800-56993000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr1:56988000-56990800	Strong transcription	Fetal Intestine Small	intestine
44	chr1:56988400-56991600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:56988400-56992800	Enhancers	Right Atrium	heart
46	chr1:56988400-56993800	Enhancers	Primary B cells from peripheral blood	blood
47	chr1:56988800-56991000	Strong transcription	Adipose Nuclei	Adipose
48	chr1:56988800-56991200	Weak transcription	Psoas Muscle	Psoas
49	chr1:56988800-56991800	Weak transcription	Stomach Mucosa	stomach
50	chr1:56988800-56992000	Weak transcription	Fetal Heart	heart

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