Variant report

Variant	rs73096557
Chromosome Location	chr1:220247111-220247112
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17007135	0.88[ASN][1000 genomes]
rs2577152	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3754060	0.86[ASN][1000 genomes]
rs59991104	0.84[ASN][1000 genomes]
rs60736051	0.86[ASN][1000 genomes]
rs61018457	0.88[ASN][1000 genomes]
rs61569366	0.86[ASN][1000 genomes]
rs73096599	0.88[ASN][1000 genomes]
rs73098515	0.86[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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220220400-220257600	Weak transcription	Stomach Mucosa	stomach
2	chr1:220220600-220262400	Weak transcription	Pancreas	Pancrea
3	chr1:220220600-220262400	Weak transcription	NHLF	lung
4	chr1:220220800-220261600	Weak transcription	Fetal Brain Male	brain
5	chr1:220231000-220247600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:220231200-220247800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:220231200-220248600	Strong transcription	Duodenum Mucosa	Duodenum
8	chr1:220232400-220250000	Weak transcription	Small Intestine	intestine
9	chr1:220234400-220247600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:220234400-220248000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:220234400-220253600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:220234600-220247600	Strong transcription	Liver	Liver
13	chr1:220235000-220247400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:220235000-220247800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:220235800-220247800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:220236000-220247400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:220236400-220262800	Weak transcription	Esophagus	oesophagus
18	chr1:220237400-220247200	Strong transcription	GM12878-XiMat	blood
19	chr1:220238000-220262800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:220238000-220267400	Weak transcription	Spleen	Spleen
21	chr1:220238200-220262800	Weak transcription	Gastric	stomach
22	chr1:220239200-220247400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:220239400-220262000	Weak transcription	Brain Germinal Matrix	brain
24	chr1:220239600-220248000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:220239600-220255200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:220239600-220261600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:220239600-220262400	Weak transcription	Right Ventricle	heart
28	chr1:220241200-220256800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:220241200-220258200	Weak transcription	Hela-S3	cervix
30	chr1:220241200-220261800	Weak transcription	A549	lung
31	chr1:220241200-220262000	Weak transcription	HMEC	breast
32	chr1:220241200-220262400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:220241200-220262400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:220241400-220262400	Weak transcription	NHEK	skin
35	chr1:220241600-220253000	Strong transcription	Fetal Intestine Small	intestine
36	chr1:220241800-220248600	Weak transcription	Psoas Muscle	Psoas
37	chr1:220242000-220247400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:220242000-220247600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:220242200-220247600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:220242600-220262800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:220243000-220247400	Strong transcription	Placenta	Placenta
42	chr1:220243400-220247600	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr1:220243800-220262400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:220244200-220247200	Strong transcription	Fetal Thymus	thymus
45	chr1:220244200-220247600	Strong transcription	HepG2	liver
46	chr1:220244400-220247400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:220244400-220247600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:220244400-220247600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:220244400-220247600	Strong transcription	K562	blood
50	chr1:220244400-220248000	Strong transcription	Fetal Stomach	stomach

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