Variant report

Variant	rs57040195
Chromosome Location	chr1:186369402-186369403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs16825183	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16825185	0.90[ASN][1000 genomes]
rs16825201	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16825224	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16825243	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16825248	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16825279	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs16825335	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17491733	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1919199	0.82[ASN][1000 genomes]
rs2272412	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2273777	0.84[ASN][1000 genomes]
rs2297226	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28715477	0.84[ASN][1000 genomes]
rs34585917	0.84[ASN][1000 genomes]
rs3736595	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3736597	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3753565	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3766699	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3766702	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3766703	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3766704	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3766705	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3766707	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3820181	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3820182	0.84[ASN][1000 genomes]
rs6425024	0.84[ASN][1000 genomes]
rs6425027	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6425028	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6664763	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6665157	0.83[AFR][1000 genomes]
rs6667940	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6678193	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6689129	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7339969	0.81[AFR][1000 genomes]
rs7514615	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7525634	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7556543	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers 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	34 gene(s)	inside rSNPs	diseases
6	nsv872589	chr1:186354146-186390303	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186345400-186371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:186345400-186371600	Weak transcription	Esophagus	oesophagus
3	chr1:186345400-186371600	Weak transcription	Gastric	stomach
4	chr1:186345400-186390600	Weak transcription	Small Intestine	intestine
5	chr1:186345400-186398200	Weak transcription	Spleen	Spleen
6	chr1:186345800-186377400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:186346200-186380400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:186346200-186388400	Weak transcription	Colonic Mucosa	Colon
9	chr1:186346400-186376000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:186346400-186388000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:186346400-186390000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:186347200-186370800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:186347400-186370400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:186347400-186370400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:186347600-186370800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:186348000-186382000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:186348600-186370200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:186348600-186370600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:186348600-186372000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:186348600-186372200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:186348600-186373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:186348600-186390200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:186348800-186370200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:186348800-186370200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr1:186348800-186370200	Strong transcription	Dnd41	blood
26	chr1:186348800-186371000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:186348800-186372000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:186348800-186372200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:186349200-186373200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:186349600-186373200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr1:186349800-186370000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:186355600-186379200	Strong transcription	K562	blood
33	chr1:186355600-186381800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:186356400-186370400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:186357000-186372200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:186357400-186371400	Strong transcription	Adipose Nuclei	Adipose
37	chr1:186357400-186373400	Strong transcription	Liver	Liver
38	chr1:186357600-186373200	Strong transcription	Placenta	Placenta
39	chr1:186360000-186374400	Weak transcription	Fetal Lung	lung
40	chr1:186360000-186379200	Weak transcription	NHLF	lung
41	chr1:186361000-186370600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:186361000-186371600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:186361200-186375000	Weak transcription	HepG2	liver
44	chr1:186361400-186377000	Weak transcription	Fetal Heart	heart
45	chr1:186361600-186388400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:186362200-186370200	Strong transcription	NH-A	brain
47	chr1:186362200-186371600	Weak transcription	Pancreas	Pancrea
48	chr1:186362400-186370000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:186362400-186405600	Weak transcription	Brain Angular Gyrus	brain
50	chr1:186362800-186375400	Weak transcription	Colon Smooth Muscle	Colon

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