Variant report

Variant	rs59644148
Chromosome Location	chr13:95225976-95225977
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	chr13:95224504..95226213-chr13:95246736..95248584,2	K562	blood:

Variant related genes	Relation type
ENSG00000088451	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58752239	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60975003	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7320230	0.87[AFR][1000 genomes]
rs7326503	0.94[EUR][1000 genomes]
rs73546623	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73546690	0.87[AFR][1000 genomes]
rs7989918	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv562756	chr13:95178317-95238154	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832685	chr13:95179676-95279966	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95215000-95235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:95218400-95232800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:95219200-95238200	Strong transcription	Primary T cells from cord blood	blood
4	chr13:95219600-95237000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:95219600-95245600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr13:95220600-95227800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:95220800-95226200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:95220800-95227800	Strong transcription	Thymus	Thymus
9	chr13:95220800-95229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:95220800-95231000	Strong transcription	Liver	Liver
11	chr13:95220800-95237000	Strong transcription	GM12878-XiMat	blood
12	chr13:95220800-95237600	Strong transcription	Fetal Intestine Large	intestine
13	chr13:95221000-95226200	Strong transcription	Fetal Stomach	stomach
14	chr13:95221000-95237000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:95221000-95238000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr13:95221000-95240000	Strong transcription	Fetal Thymus	thymus
17	chr13:95221000-95241000	Strong transcription	Dnd41	blood
18	chr13:95221200-95235600	Strong transcription	Adipose Nuclei	Adipose
19	chr13:95221200-95236600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr13:95221200-95237400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr13:95221200-95238000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:95221200-95239200	Weak transcription	Brain Germinal Matrix	brain
23	chr13:95221400-95226200	Strong transcription	Fetal Intestine Small	intestine
24	chr13:95221400-95226200	Strong transcription	Gastric	stomach
25	chr13:95221400-95228000	Strong transcription	Fetal Muscle Leg	muscle
26	chr13:95221400-95235400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:95221400-95237400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:95221400-95242800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr13:95221400-95245800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr13:95221600-95226000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:95221600-95226200	Strong transcription	Spleen	Spleen
32	chr13:95221600-95240000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr13:95221800-95228600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:95221800-95237000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr13:95221800-95239800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:95221800-95241200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr13:95222000-95226000	Strong transcription	Pancreas	Pancrea
38	chr13:95222000-95226200	Strong transcription	Lung	lung
39	chr13:95222000-95227200	Strong transcription	Left Ventricle	heart
40	chr13:95222000-95227200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr13:95222000-95228000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr13:95222000-95230200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr13:95222000-95236000	Strong transcription	HMEC	breast
44	chr13:95222000-95237400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr13:95222000-95238200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:95222000-95240000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr13:95222000-95245000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr13:95222000-95247200	Weak transcription	Fetal Brain Male	brain
49	chr13:95222200-95226400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr13:95222200-95229200	Strong transcription	Muscle Satellite Cultured Cells	--

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