Variant report

Variant	rs4148440
Chromosome Location	chr13:95898428-95898429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95893721..95895916-chr13:95898093..95900583,2	K562	blood:
2	chr13:95898278..95901890-chr13:95902438..95906069,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11616679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.93[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11841205	1.00[ASW][hapmap]
rs17235159	1.00[ASW][hapmap]
rs17300921	1.00[ASW][hapmap]
rs17300928	1.00[ASW][hapmap]
rs1926657	0.81[GIH][hapmap]
rs2153673	0.86[MEX][hapmap]
rs2766476	0.81[GIH][hapmap]
rs2892713	0.91[GIH][hapmap];0.81[MEX][hapmap]
rs3782965	0.81[GIH][hapmap]
rs4148422	0.80[MEX][hapmap]
rs4148431	0.81[CHD][hapmap];0.86[MEX][hapmap]
rs4148442	0.82[CHB][hapmap]
rs4148451	0.82[CHB][hapmap]
rs4148455	0.92[GIH][hapmap];0.81[MEX][hapmap]
rs4148464	0.81[GIH][hapmap]
rs4148465	0.81[GIH][hapmap]
rs4148469	0.81[GIH][hapmap]
rs4303338	0.81[GIH][hapmap]
rs4334136	0.81[GIH][hapmap]
rs4505186	0.81[GIH][hapmap]
rs4612933	0.81[GIH][hapmap]
rs4636781	0.81[GIH][hapmap]
rs4773847	0.81[GIH][hapmap]
rs4773854	0.81[GIH][hapmap]
rs4773857	0.89[GIH][hapmap]
rs4773860	0.96[ASN][1000 genomes]
rs6492769	0.81[GIH][hapmap]
rs7324354	0.85[EUR][1000 genomes]
rs7325019	0.81[GIH][hapmap]
rs7329432	0.83[GIH][hapmap]
rs7333281	0.81[GIH][hapmap]
rs7335147	0.81[GIH][hapmap]
rs7983336	0.81[GIH][hapmap]
rs7987653	0.81[GIH][hapmap]
rs7988494	0.81[GIH][hapmap]
rs8003006	0.82[CHB][hapmap]
rs873706	1.00[ASW][hapmap]
rs899496	0.83[GIH][hapmap]
rs899497	0.81[GIH][hapmap]
rs9516545	0.81[GIH][hapmap]
rs9524833	0.81[GIH][hapmap]
rs9524856	0.92[GIH][hapmap]
rs9524859	0.82[CHD][hapmap]
rs9524860	0.82[CHD][hapmap]

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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95859000-95901000	Weak transcription	Aorta	Aorta
2	chr13:95859200-95901400	Weak transcription	Primary T cells from cord blood	blood
3	chr13:95859200-95902200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr13:95861600-95906200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:95861800-95899000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr13:95879200-95907400	Weak transcription	Small Intestine	intestine
7	chr13:95879200-95914000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
9	chr13:95880800-95898600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr13:95880800-95902400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:95881600-95904000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:95884200-95901200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:95884800-95906400	Weak transcription	Hela-S3	cervix
14	chr13:95887000-95918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:95888000-95909000	Weak transcription	Fetal Stomach	stomach
16	chr13:95888400-95906800	Weak transcription	Gastric	stomach
17	chr13:95889000-95899400	Weak transcription	HUVEC	blood vessel
18	chr13:95890000-95898600	Weak transcription	Fetal Lung	lung
19	chr13:95890000-95907600	Weak transcription	Colon Smooth Muscle	Colon
20	chr13:95890800-95906400	Weak transcription	Osteobl	bone
21	chr13:95891800-95908000	Weak transcription	Esophagus	oesophagus
22	chr13:95892600-95905400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr13:95893000-95905400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr13:95893600-95899400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr13:95894000-95899400	Weak transcription	Brain Hippocampus Middle	brain
26	chr13:95894000-95899600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr13:95895000-95900000	Enhancers	Primary hematopoietic stem cells	blood
28	chr13:95895200-95898600	Strong transcription	A549	lung
29	chr13:95895400-95900000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr13:95895400-95900000	Strong transcription	NHLF	lung
31	chr13:95895600-95899800	Weak transcription	Spleen	Spleen
32	chr13:95895800-95899400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:95896000-95902000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:95896200-95923400	Weak transcription	Ovary	ovary
35	chr13:95897000-95898600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr13:95897000-95899000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr13:95897000-95899000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr13:95897000-95900400	Genic enhancers	GM12878-XiMat	blood
39	chr13:95897000-95927400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr13:95897200-95900000	Genic enhancers	Lung	lung
41	chr13:95897400-95900000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr13:95897400-95900000	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr13:95897400-95900600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr13:95897600-95898600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:95897600-95898800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:95897600-95899000	Strong transcription	Fetal Intestine Large	intestine
47	chr13:95897600-95899400	Enhancers	Duodenum Mucosa	Duodenum
48	chr13:95897600-95901200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr13:95897800-95898600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr13:95897800-95898800	Enhancers	Pancreas	Pancrea

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