Variant report

Variant	rs593519
Chromosome Location	chr1:62909708-62909709
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10889341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1167995	0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1167997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168008	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168016	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168038	1.00[AMR][1000 genomes]
rs1168048	1.00[AMR][1000 genomes]
rs1168088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168091	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168125	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690760	0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690764	0.88[YRI][hapmap]
rs1690765	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1748194	0.87[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781215	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2801387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2813926	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34186185	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4329539	0.89[YRI][hapmap]
rs584387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs612455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs657444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs660642	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7515054	0.89[YRI][hapmap]
rs9436660	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
2	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr1:62903600-62914600	Weak transcription	Spleen	Spleen
2	chr1:62904000-62915200	Weak transcription	Lung	lung
3	chr1:62904200-62911000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:62904200-62911400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:62904200-62911400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:62904200-62913000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:62904200-62914200	Weak transcription	Colonic Mucosa	Colon
8	chr1:62904200-62914600	Weak transcription	Gastric	stomach
9	chr1:62904200-62915400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:62904200-62917800	Weak transcription	Pancreas	Pancrea
11	chr1:62904200-62931400	Weak transcription	HSMMtube	muscle
12	chr1:62904200-62940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:62904400-62914600	Weak transcription	Psoas Muscle	Psoas
14	chr1:62904600-62911800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:62904600-62913000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:62904600-62916400	Weak transcription	Stomach Mucosa	stomach
17	chr1:62904800-62910400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:62904800-62911000	Weak transcription	Brain Angular Gyrus	brain
19	chr1:62904800-62914600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:62904800-62931600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:62905200-62915000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:62905400-62912200	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:62905400-62926800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:62905600-62923200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:62905800-62910600	Weak transcription	Fetal Brain Male	brain
26	chr1:62905800-62911000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:62905800-62919400	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr1:62906000-62913000	Weak transcription	Fetal Heart	heart
29	chr1:62906000-62922200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:62906000-62923400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:62906000-62925200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:62906200-62921200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:62906200-62923200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:62906200-62923400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:62906400-62911200	Weak transcription	Small Intestine	intestine
36	chr1:62906400-62911400	Weak transcription	Ovary	ovary
37	chr1:62906400-62914600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:62906400-62918800	Strong transcription	K562	blood
39	chr1:62906400-62919000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:62906400-62923400	Strong transcription	Placenta	Placenta
41	chr1:62906600-62922600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr1:62906800-62909800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:62906800-62915400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:62906800-62919000	Strong transcription	Hela-S3	cervix
45	chr1:62906800-62920000	Strong transcription	Fetal Thymus	thymus
46	chr1:62907000-62910800	Strong transcription	HUVEC	blood vessel
47	chr1:62907000-62911400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:62907000-62912400	Strong transcription	A549	lung
49	chr1:62907000-62917400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:62907000-62918400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links