Variant report

Variant	rs73128639
Chromosome Location	chr1:223066698-223066699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223062880..223064889-chr1:223066694..223069200,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17163519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2378614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28834670	1.00[EUR][1000 genomes]
rs34080450	0.90[AFR][1000 genomes]
rs73126884	1.00[EUR][1000 genomes]
rs73126893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128611	1.00[EUR][1000 genomes]
rs73128618	1.00[EUR][1000 genomes]
rs73128629	1.00[EUR][1000 genomes]
rs73128632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128633	1.00[EUR][1000 genomes]
rs73128635	1.00[EUR][1000 genomes]
rs73128643	1.00[EUR][1000 genomes]
rs73128645	1.00[EUR][1000 genomes]
rs73128668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128682	1.00[EUR][1000 genomes]
rs73128692	1.00[EUR][1000 genomes]
rs73130611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223029800-223066800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:223051600-223070600	Weak transcription	Small Intestine	intestine
3	chr1:223051800-223070000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:223051800-223070000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:223052800-223070200	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:223054400-223066800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:223055800-223082800	Weak transcription	Fetal Heart	heart
8	chr1:223057800-223068000	Weak transcription	Placenta	Placenta
9	chr1:223060200-223071200	Weak transcription	Ovary	ovary
10	chr1:223060400-223070000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:223060600-223070000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:223060800-223070200	Weak transcription	Fetal Lung	lung
13	chr1:223062800-223070200	Weak transcription	Adipose Nuclei	Adipose
14	chr1:223063000-223066800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:223063200-223070400	Weak transcription	Primary T cells from cord blood	blood
16	chr1:223063800-223068400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:223064800-223067800	Enhancers	HepG2	liver
18	chr1:223065000-223067000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:223065200-223067600	Weak transcription	Gastric	stomach
20	chr1:223065200-223083000	Weak transcription	Aorta	Aorta
21	chr1:223065400-223069200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:223065800-223066800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:223065800-223070000	Weak transcription	Osteobl	bone
24	chr1:223066000-223067800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:223066000-223069400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:223066000-223070000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:223066200-223066800	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr1:223066200-223069800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:223066200-223070200	Weak transcription	NHDF-Ad	bronchial
30	chr1:223066200-223070400	Weak transcription	NHLF	lung
31	chr1:223066200-223070600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:223066400-223066800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:223066600-223066800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:223066600-223066800	Enhancers	Right Ventricle	heart
35	chr1:223066600-223067000	ZNF genes & repeats	Lung	lung
36	chr1:223066600-223067000	Enhancers	Spleen	Spleen
37	chr1:223066600-223067000	Flanking Active TSS	NHEK	skin
38	chr1:223066600-223067400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:223066600-223067400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:223066600-223067400	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr1:223066600-223067400	Enhancers	Psoas Muscle	Psoas
42	chr1:223066600-223067400	Enhancers	HMEC	breast
43	chr1:223066600-223067600	ZNF genes & repeats	Dnd41	blood
44	chr1:223066600-223067800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:223066600-223068200	ZNF genes & repeats	Fetal Stomach	stomach

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