Variant report

Variant	rs41300322
Chromosome Location	chr1:62594395-62594396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72677942	1.00[AFR][1000 genomes]
rs72677948	1.00[AMR][1000 genomes]
rs72677952	1.00[AFR][1000 genomes];0.87[EUR][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	chr1:62566200-62594400	Weak transcription	Aorta	Aorta
10	chr1:62566200-62603400	Weak transcription	Esophagus	oesophagus
11	chr1:62566200-62604400	Weak transcription	Lung	lung
12	chr1:62566200-62614000	Weak transcription	Adipose Nuclei	Adipose
13	chr1:62566800-62608000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:62569800-62594400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:62570000-62594400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:62570200-62607800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:62575200-62608000	Weak transcription	Fetal Kidney	kidney
18	chr1:62576600-62596800	Weak transcription	Fetal Stomach	stomach
19	chr1:62576600-62618000	Weak transcription	Psoas Muscle	Psoas
20	chr1:62576800-62607800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:62580000-62594400	Weak transcription	Gastric	stomach
22	chr1:62580000-62611600	Weak transcription	Pancreas	Pancrea
23	chr1:62580200-62617200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:62580600-62594400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:62582400-62594400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:62582600-62594600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:62584400-62594600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:62584600-62603400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:62584600-62607800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:62588000-62596800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:62588600-62595000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:62588600-62622600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:62588800-62602000	Weak transcription	HMEC	breast
34	chr1:62589000-62602800	Weak transcription	NHEK	skin
35	chr1:62589800-62599000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:62590200-62598400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:62590600-62594800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:62590800-62609400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:62592400-62597400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:62593000-62605000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:62593200-62607800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:62593200-62621800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:62593400-62596200	Strong transcription	Fetal Intestine Small	intestine
44	chr1:62593400-62617600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:62593600-62594800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:62593600-62596000	Strong transcription	Liver	Liver
47	chr1:62593600-62596000	Strong transcription	Fetal Intestine Large	intestine
48	chr1:62593600-62597000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:62593600-62636200	Weak transcription	Spleen	Spleen
50	chr1:62593800-62596200	Strong transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links