Variant report

Variant	rs10489727
Chromosome Location	chr1:184482618-184482619
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:9)

rs_ID	r²[population]
rs16823266	1.00[AMR][1000 genomes]
rs1977144	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58369306	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61004935	1.00[AMR][1000 genomes]
rs73046716	1.00[AMR][1000 genomes]
rs73061657	1.00[AMR][1000 genomes]
rs73063518	1.00[AMR][1000 genomes]
rs73063548	1.00[AMR][1000 genomes]
rs73063553	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184456400-184502200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:184459600-184483000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:184461600-184502800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:184468000-184482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:184473600-184489400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:184473800-184483000	Weak transcription	Colonic Mucosa	Colon
7	chr1:184474200-184488600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:184474400-184483200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:184474400-184488000	Weak transcription	Right Ventricle	heart
10	chr1:184474400-184505400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:184476800-184482800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:184476800-184489800	Weak transcription	Fetal Stomach	stomach
13	chr1:184477000-184483000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:184477200-184483000	Weak transcription	A549	lung
15	chr1:184477200-184487600	Weak transcription	Fetal Brain Female	brain
16	chr1:184477200-184488000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:184477400-184483000	Weak transcription	NHLF	lung
18	chr1:184477400-184487200	Weak transcription	Fetal Brain Male	brain
19	chr1:184477400-184487800	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:184477400-184488600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:184477400-184489000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:184477400-184494800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:184477400-184502200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:184477800-184489200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:184477800-184491800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:184478000-184493200	Weak transcription	HSMM	muscle
27	chr1:184478400-184486600	Weak transcription	Adipose Nuclei	Adipose
28	chr1:184478400-184486600	Weak transcription	Fetal Lung	lung
29	chr1:184478400-184505200	Weak transcription	Fetal Intestine Small	intestine
30	chr1:184478600-184486000	Weak transcription	Fetal Intestine Large	intestine
31	chr1:184478600-184488600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:184478600-184501200	Weak transcription	Fetal Heart	heart
33	chr1:184478800-184483000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:184478800-184483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:184478800-184487800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:184478800-184502200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:184479000-184483400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:184479200-184483000	Weak transcription	Aorta	Aorta
39	chr1:184479200-184483000	Weak transcription	Lung	lung
40	chr1:184479200-184493800	Weak transcription	Ovary	ovary
41	chr1:184479400-184489000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:184479800-184483000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:184480000-184483000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:184480000-184495000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:184480200-184489200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:184480200-184505200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:184480600-184501400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:184481400-184504000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:184481600-184483000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:184482000-184482800	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links