Variant report

Variant	rs4424519
Chromosome Location	chr1:94910394-94910395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1023058	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11165143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11165150	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12080254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12094329	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12142995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12404710	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12750904	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1415758	0.84[ASN][1000 genomes]
rs4148045	0.91[ASN][1000 genomes]
rs4148046	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4148051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4579764	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6656819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6660167	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7528491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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	nsv871097	chr1:94850443-94941890	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94885200-94915000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:94888400-94914600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:94889200-94914200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:94894600-94914800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:94899200-94914800	Weak transcription	HSMM	muscle
6	chr1:94901800-94911200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:94904600-94910400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:94904600-94910600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:94904600-94914800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:94906200-94910800	Weak transcription	Gastric	stomach
11	chr1:94906200-94912000	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:94906200-94914600	Weak transcription	Left Ventricle	heart
13	chr1:94906200-94915200	Weak transcription	Pancreas	Pancrea
14	chr1:94907200-94911400	Weak transcription	Liver	Liver
15	chr1:94908600-94918800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:94909000-94910400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:94909400-94914800	Weak transcription	Fetal Kidney	kidney
18	chr1:94909600-94911200	ZNF genes & repeats	Thymus	Thymus
19	chr1:94909600-94912000	ZNF genes & repeats	Fetal Thymus	thymus
20	chr1:94909600-94914600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:94910000-94911200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr1:94910000-94911400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr1:94910000-94911600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr1:94910000-94914800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:94910200-94910600	ZNF genes & repeats	A549	lung
26	chr1:94910200-94911000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:94910200-94911000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:94910200-94911200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:94910200-94911200	ZNF genes & repeats	Fetal Muscle Leg	muscle
30	chr1:94910200-94911400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:94910200-94911400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:94910200-94912000	ZNF genes & repeats	Fetal Intestine Small	intestine

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