Variant report

Variant	rs2760223
Chromosome Location	chr1:62595059-62595060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17097039	1.00[AMR][1000 genomes]
rs17123080	1.00[AMR][1000 genomes]
rs2365986	1.00[AMR][1000 genomes]
rs2666497	0.85[AFR][1000 genomes]
rs2774935	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv461650	chr1:62542717-62657530	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv546417	chr1:62542717-62657530	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1012683	chr1:62587852-62643998	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62508200-62628400	Weak transcription	Colonic Mucosa	Colon
2	chr1:62536200-62619400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:62545400-62606800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:62548400-62629800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:62550200-62607800	Weak transcription	Right Ventricle	heart
6	chr1:62551800-62614000	Weak transcription	Primary T cells from cord blood	blood
7	chr1:62554200-62614000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:62563600-62617400	Weak transcription	Brain Anterior Caudate	brain
9	chr1:62566200-62603400	Weak transcription	Esophagus	oesophagus
10	chr1:62566200-62604400	Weak transcription	Lung	lung
11	chr1:62566200-62614000	Weak transcription	Adipose Nuclei	Adipose
12	chr1:62566800-62608000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:62570200-62607800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:62575200-62608000	Weak transcription	Fetal Kidney	kidney
15	chr1:62576600-62596800	Weak transcription	Fetal Stomach	stomach
16	chr1:62576600-62618000	Weak transcription	Psoas Muscle	Psoas
17	chr1:62576800-62607800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:62580000-62611600	Weak transcription	Pancreas	Pancrea
19	chr1:62580200-62617200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:62584600-62603400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:62584600-62607800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:62588000-62596800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:62588600-62622600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:62588800-62602000	Weak transcription	HMEC	breast
25	chr1:62589000-62602800	Weak transcription	NHEK	skin
26	chr1:62589800-62599000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:62590200-62598400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:62590800-62609400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:62592400-62597400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:62593000-62605000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:62593200-62607800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:62593200-62621800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:62593400-62596200	Strong transcription	Fetal Intestine Small	intestine
34	chr1:62593400-62617600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:62593600-62596000	Strong transcription	Liver	Liver
36	chr1:62593600-62596000	Strong transcription	Fetal Intestine Large	intestine
37	chr1:62593600-62597000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:62593600-62636200	Weak transcription	Spleen	Spleen
39	chr1:62593800-62596200	Strong transcription	Ovary	ovary
40	chr1:62593800-62607800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:62594000-62595200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr1:62594200-62595200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr1:62594200-62595200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:62594200-62595600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:62594200-62595800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:62594200-62596000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr1:62594200-62596000	Strong transcription	Left Ventricle	heart
48	chr1:62594200-62598400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:62594400-62595200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:62594400-62595200	Strong transcription	Gastric	stomach

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