Variant report

Variant	rs7596403
Chromosome Location	chr2:55380255-55380256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55378428..55381284-chr2:55382487..55384417,2	MCF-7	breast:
2	chr2:55277310..55277991-chr2:55380185..55381166,2	Hela-S3	cervix:
3	chr2:55366215..55370313-chr2:55376970..55382641,6	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11886358	1.00[EUR][1000 genomes]
rs11887112	1.00[EUR][1000 genomes]
rs11889466	1.00[EUR][1000 genomes]
rs11890896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11896438	1.00[EUR][1000 genomes]
rs11902622	1.00[EUR][1000 genomes]
rs17046771	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17046787	0.91[AMR][1000 genomes]
rs2972077	1.00[EUR][1000 genomes]
rs55726603	0.91[AMR][1000 genomes]
rs55735105	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56219595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56887573	0.91[AMR][1000 genomes]
rs56902676	0.91[AMR][1000 genomes]
rs57489147	0.91[AMR][1000 genomes]
rs57517202	0.91[AMR][1000 genomes]
rs58016152	1.00[EUR][1000 genomes]
rs58207828	0.91[AMR][1000 genomes]
rs58485503	0.91[AMR][1000 genomes]
rs60944260	1.00[EUR][1000 genomes]
rs61197615	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707902	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716121	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6721728	0.91[AMR][1000 genomes]
rs6723598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6724153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736539	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936831	1.00[EUR][1000 genomes]
rs73936834	1.00[EUR][1000 genomes]
rs73936837	1.00[EUR][1000 genomes]
rs73936845	1.00[EUR][1000 genomes]
rs73936947	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73936949	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936964	0.91[AMR][1000 genomes]
rs7608709	0.91[AMR][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	nsv1010438	chr2:55373562-55450144	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55365200-55381000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:55371600-55382400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:55373400-55381000	Weak transcription	Stomach Mucosa	stomach
4	chr2:55376000-55380400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:55376000-55381000	Weak transcription	Fetal Thymus	thymus
6	chr2:55376000-55381000	Weak transcription	HSMM	muscle
7	chr2:55376000-55383800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:55376400-55380800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:55376800-55382000	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:55376800-55382400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:55377400-55381800	Enhancers	GM12878-XiMat	blood
12	chr2:55377400-55382000	Enhancers	Primary B cells from cord blood	blood
13	chr2:55377600-55381000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:55377600-55381800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr2:55378000-55386800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:55378000-55386800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:55378200-55381000	Enhancers	Stomach Smooth Muscle	stomach
18	chr2:55378200-55382400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:55378200-55383600	Enhancers	Brain Substantia Nigra	brain
20	chr2:55378200-55386200	Enhancers	Brain Hippocampus Middle	brain
21	chr2:55378200-55388000	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:55378200-55388800	Enhancers	Adipose Nuclei	Adipose
23	chr2:55378400-55381800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr2:55378400-55383800	Enhancers	NHLF	lung
25	chr2:55378600-55383200	Enhancers	Colon Smooth Muscle	Colon
26	chr2:55378600-55383600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:55378600-55385600	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:55378600-55386800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:55378600-55386800	Enhancers	Fetal Stomach	stomach
30	chr2:55378800-55380800	Enhancers	Duodenum Mucosa	Duodenum
31	chr2:55378800-55382000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr2:55378800-55382600	Enhancers	Placenta	Placenta
33	chr2:55378800-55383200	Enhancers	Fetal Brain Male	brain
34	chr2:55378800-55383600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:55378800-55385600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:55378800-55386800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:55379000-55381000	Weak transcription	Esophagus	oesophagus
38	chr2:55379000-55382000	Weak transcription	Left Ventricle	heart
39	chr2:55379000-55384200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:55379200-55381000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:55379200-55381000	Weak transcription	Spleen	Spleen
42	chr2:55379200-55383000	Enhancers	Fetal Brain Female	brain
43	chr2:55379200-55383600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:55379200-55385200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:55379400-55380800	Weak transcription	NHDF-Ad	bronchial
46	chr2:55379400-55380800	Enhancers	NHEK	skin
47	chr2:55379400-55381000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:55379400-55381800	Enhancers	Small Intestine	intestine
49	chr2:55379400-55385200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:55379400-55386600	Enhancers	Fetal Intestine Large	intestine

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