Variant report

Variant	rs2249948
Chromosome Location	chr15:43720570-43720571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1814540	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2245161	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2247734	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264051	1.00[EUR][1000 genomes]
rs2444031	1.00[EUR][1000 genomes]
rs2444248	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2447200	1.00[EUR][1000 genomes]
rs2447214	1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs2601019	0.89[AFR][1000 genomes]
rs28370962	1.00[EUR][1000 genomes]
rs492046	1.00[EUR][1000 genomes]
rs4924721	1.00[EUR][1000 genomes]
rs509037	1.00[EUR][1000 genomes]
rs509197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545430	1.00[EUR][1000 genomes]
rs555252	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs558010	1.00[EUR][1000 genomes]
rs559805	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56329224	1.00[EUR][1000 genomes]
rs573201	1.00[EUR][1000 genomes]
rs575304	1.00[EUR][1000 genomes]
rs59083674	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs689735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs690262	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7173990	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74009133	1.00[EUR][1000 genomes]
rs933942	1.00[EUR][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	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43665000-43730000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:43668200-43732800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:43675600-43744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:43682800-43720800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:43682800-43727800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:43683400-43732200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:43686000-43720600	Strong transcription	Brain Germinal Matrix	brain
8	chr15:43686000-43727000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:43686600-43726000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr15:43686600-43733200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:43686600-43733800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr15:43686800-43725400	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr15:43686800-43725600	Strong transcription	Osteobl	bone
14	chr15:43686800-43733400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:43687000-43725400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:43687000-43732200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:43687200-43733400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr15:43687600-43731600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr15:43689200-43737200	Weak transcription	Stomach Mucosa	stomach
20	chr15:43700000-43748400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr15:43703200-43739800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:43703600-43731400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:43703800-43724800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:43704200-43727200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:43705400-43720800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:43709200-43724400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr15:43709400-43741600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:43709800-43723600	Weak transcription	Fetal Brain Male	brain
29	chr15:43711000-43720800	Strong transcription	Adipose Nuclei	Adipose
30	chr15:43711400-43720800	Strong transcription	Dnd41	blood
31	chr15:43711400-43726400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr15:43711600-43723000	Weak transcription	Psoas Muscle	Psoas
33	chr15:43712200-43720600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr15:43712400-43720600	Strong transcription	Placenta	Placenta
35	chr15:43712400-43721000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr15:43713200-43729600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr15:43713600-43750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:43713800-43722000	Weak transcription	Fetal Heart	heart
39	chr15:43714000-43748200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr15:43714400-43723000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:43714400-43724200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr15:43714400-43724200	Weak transcription	Small Intestine	intestine
43	chr15:43714400-43724400	Weak transcription	HMEC	breast
44	chr15:43714400-43733000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr15:43715000-43722800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr15:43715000-43723800	Weak transcription	NHLF	lung
47	chr15:43715000-43747600	Weak transcription	Right Ventricle	heart
48	chr15:43715200-43723200	Weak transcription	Pancreas	Pancrea
49	chr15:43715400-43724400	Weak transcription	Spleen	Spleen
50	chr15:43715600-43748200	Weak transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links