Variant report

Variant	rs10799561
Chromosome Location	chr1:224502154-224502155
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10799560	1.00[AMR][1000 genomes]
rs16849317	1.00[AMR][1000 genomes]
rs1878852	1.00[AMR][1000 genomes]
rs2404860	1.00[AMR][1000 genomes]
rs35529540	1.00[AMR][1000 genomes]
rs4436353	1.00[AMR][1000 genomes]
rs4653576	1.00[AMR][1000 genomes]
rs4654018	1.00[AMR][1000 genomes]
rs58444825	1.00[AMR][1000 genomes]
rs6426109	1.00[AMR][1000 genomes]
rs6682420	1.00[AMR][1000 genomes]
rs6682432	1.00[AMR][1000 genomes]
rs6692013	1.00[AMR][1000 genomes]
rs73124418	1.00[AMR][1000 genomes]
rs73124426	1.00[AMR][1000 genomes]
rs73124444	1.00[AMR][1000 genomes]
rs73124475	1.00[AMR][1000 genomes]
rs73124496	1.00[AMR][1000 genomes]
rs73124501	1.00[AMR][1000 genomes]
rs7522125	1.00[AMR][1000 genomes]
rs7530828	1.00[AMR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224433400-224516200	Weak transcription	Fetal Heart	heart
2	chr1:224461200-224505600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:224465000-224504400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:224465000-224504400	Strong transcription	Liver	Liver
5	chr1:224465000-224505200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:224465000-224505600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:224465400-224505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:224466400-224505400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr1:224466400-224505400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:224466400-224505600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:224466600-224505600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:224468000-224505200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:224473600-224505400	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:224473600-224505400	Strong transcription	Fetal Thymus	thymus
15	chr1:224475600-224505800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:224476000-224505600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:224476000-224506200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:224476400-224505600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:224476600-224505600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:224476600-224506200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:224477400-224505800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:224478400-224504800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:224478400-224505400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:224478800-224505200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr1:224478800-224505400	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:224482200-224504800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:224482800-224517000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:224483800-224517200	Weak transcription	Small Intestine	intestine
29	chr1:224484800-224505600	Strong transcription	Hela-S3	cervix
30	chr1:224486800-224505400	Strong transcription	Fetal Intestine Large	intestine
31	chr1:224487400-224515600	Weak transcription	Psoas Muscle	Psoas
32	chr1:224488200-224502600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:224488800-224505400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:224491600-224503600	Weak transcription	Right Ventricle	heart
35	chr1:224491800-224505400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:224491800-224511200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:224491800-224515600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:224491800-224516200	Weak transcription	Fetal Brain Male	brain
39	chr1:224491800-224516400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:224491800-224516600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:224492000-224513400	Weak transcription	Lung	lung
42	chr1:224492400-224516400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:224493000-224505000	Strong transcription	Fetal Intestine Small	intestine
44	chr1:224493200-224514400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:224493400-224504800	Strong transcription	Fetal Stomach	stomach
46	chr1:224494000-224505400	Strong transcription	Placenta	Placenta
47	chr1:224494400-224505600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:224495200-224515600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:224495400-224503600	Weak transcription	Gastric	stomach
50	chr1:224495400-224503600	Weak transcription	Pancreas	Pancrea

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