Variant report

Variant	rs61831151
Chromosome Location	chr1:186283422-186283423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186272061..186274014-chr1:186281964..186283567,2	K562	blood:
2	chr1:186281788..186283924-chr1:186342590..186344870,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047410	Chromatin interaction

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

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

rs_ID	r²[population]
rs1003127	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911847	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911849	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911854	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911858	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11582844	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12064371	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078527	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12082399	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12084264	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12085497	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12093440	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1547084	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17580052	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2037959	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2273779	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2383479	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2383480	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3737940	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3753564	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3753567	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61810289	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61810292	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61831150	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7519719	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7539128	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][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	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186272000-186306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:186273200-186283800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:186273200-186284000	Weak transcription	Spleen	Spleen
4	chr1:186273200-186286200	Weak transcription	Pancreas	Pancrea
5	chr1:186273200-186290000	Weak transcription	Gastric	stomach
6	chr1:186275000-186284000	Weak transcription	Aorta	Aorta
7	chr1:186275000-186284000	Weak transcription	Esophagus	oesophagus
8	chr1:186275000-186284000	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:186275000-186284000	Weak transcription	Lung	lung
10	chr1:186275000-186284000	Weak transcription	Right Ventricle	heart
11	chr1:186275000-186284800	Weak transcription	Brain Substantia Nigra	brain
12	chr1:186275000-186286200	Weak transcription	Psoas Muscle	Psoas
13	chr1:186275200-186284000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:186275600-186283600	Weak transcription	HSMMtube	muscle
15	chr1:186276800-186284800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:186276800-186285800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:186277000-186283600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:186277600-186295200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:186277600-186342600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:186277800-186297000	Strong transcription	Primary B cells from cord blood	blood
21	chr1:186278000-186284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:186278000-186284000	Weak transcription	Fetal Stomach	stomach
23	chr1:186278000-186284000	Weak transcription	Thymus	Thymus
24	chr1:186278200-186284000	Weak transcription	Ovary	ovary
25	chr1:186278200-186284000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:186278400-186284000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:186278400-186284000	Weak transcription	Fetal Intestine Small	intestine
28	chr1:186278400-186342600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr1:186278600-186292800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:186278800-186320400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:186279200-186284200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:186279400-186295800	Strong transcription	A549	lung
33	chr1:186279400-186342400	Strong transcription	Fetal Thymus	thymus
34	chr1:186279600-186283600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:186279600-186284000	Weak transcription	Small Intestine	intestine
36	chr1:186279600-186284800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:186279600-186292200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:186279600-186317600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:186279600-186342400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:186280000-186284000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:186280000-186285600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:186280000-186317600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:186280000-186320200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:186280000-186340400	Strong transcription	Dnd41	blood
45	chr1:186280000-186342000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:186280000-186342400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:186280000-186342400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr1:186280000-186342400	Strong transcription	Osteobl	bone
49	chr1:186280000-186342600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:186280000-186342600	Strong transcription	HSMM	muscle

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