Variant report

Variant	rs17118423
Chromosome Location	chr1:59394821-59394822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59279498..59283509-chr1:59392349..59395635,3	MCF-7	breast:
2	chr1:59244053..59249750-chr1:59393075..59399809,12	K562	blood:
3	chr1:59392641..59396388-chr1:59399124..59401431,3	K562	blood:
4	chr1:59246732..59251125-chr1:59394532..59399253,8	MCF-7	breast:
5	chr1:59393493..59395224-chr1:59396747..59398606,2	MCF-7	breast:
6	chr1:59245645..59251479-chr1:59393366..59398471,10	MCF-7	breast:
7	chr1:59284595..59286940-chr1:59394772..59397437,2	K562	blood:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11806596	0.82[EUR][1000 genomes]
rs12071047	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12089816	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12093908	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17096897	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17118430	0.81[EUR][1000 genomes]
rs17118441	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1886744	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477743	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764909	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35393496	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55675910	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55834295	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55872264	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56175432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56219110	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56251271	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56349902	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6681035	0.81[EUR][1000 genomes]
rs72678885	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72678896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678899	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678901	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680106	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680107	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680109	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680113	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921571	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59385200-59397800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:59386600-59399800	Enhancers	Fetal Intestine Small	intestine
3	chr1:59388400-59397800	Weak transcription	NHLF	lung
4	chr1:59388600-59397800	Weak transcription	Lung	lung
5	chr1:59388800-59397800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:59388800-59398600	Weak transcription	Pancreas	Pancrea
7	chr1:59389000-59398800	Weak transcription	Right Atrium	heart
8	chr1:59389000-59407000	Weak transcription	Spleen	Spleen
9	chr1:59389200-59395400	Weak transcription	Fetal Thymus	thymus
10	chr1:59389200-59398600	Weak transcription	Psoas Muscle	Psoas
11	chr1:59389200-59401400	Weak transcription	Left Ventricle	heart
12	chr1:59390200-59399600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:59391200-59399600	Enhancers	Fetal Intestine Large	intestine
14	chr1:59391600-59396200	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:59391800-59396600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:59392000-59397800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:59392000-59399600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:59392600-59395000	Enhancers	NHEK	skin
19	chr1:59392600-59395200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:59392600-59396200	Enhancers	HMEC	breast
21	chr1:59392600-59398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:59392600-59399400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:59392800-59395000	Enhancers	A549	lung
24	chr1:59393000-59396000	Enhancers	K562	blood
25	chr1:59393200-59398400	Weak transcription	Adipose Nuclei	Adipose
26	chr1:59393400-59395400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:59393400-59397600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:59393400-59398800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:59393600-59397600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:59393600-59398600	Weak transcription	Fetal Lung	lung
31	chr1:59393600-59400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:59393600-59406800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:59393800-59395200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:59393800-59396000	Flanking Active TSS	Hela-S3	cervix
35	chr1:59393800-59398600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:59394000-59395200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:59394200-59395600	Enhancers	Colonic Mucosa	Colon
38	chr1:59394400-59395200	Weak transcription	Esophagus	oesophagus
39	chr1:59394400-59395800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:59394400-59396200	Bivalent Enhancer	HepG2	liver
41	chr1:59394400-59396600	Enhancers	Small Intestine	intestine
42	chr1:59394600-59395200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:59394600-59395400	Enhancers	Gastric	stomach
44	chr1:59394600-59395800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr1:59394600-59396000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:59394600-59396400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:59394800-59395000	Flanking Active TSS	Stomach Mucosa	stomach
48	chr1:59394800-59395400	Active TSS	Rectal Smooth Muscle	rectum
49	chr1:59394800-59395600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr1:59394800-59396000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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