Variant report

Variant	rs13099193
Chromosome Location	chr3:141128804-141128805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141122791..141124629-chr3:141128045..141130082,2	K562	blood:
2	chr3:141127732..141130108-chr3:141132601..141134481,2	MCF-7	breast:
3	chr3:141124961..141126673-chr3:141128452..141131076,2	K562	blood:
4	chr3:141125595..141129103-chr3:141133581..141136725,3	K562	blood:
5	chr3:141126713..141129325-chr3:141173577..141175312,2	MCF-7	breast:
6	chr3:141126444..141129026-chr3:141149280..141150902,2	K562	blood:
7	chr3:141103656..141105219-chr3:141126997..141129386,2	K562	blood:
8	chr3:141030275..141032040-chr3:141128069..141130455,2	K562	blood:
9	chr3:141085385..141089817-chr3:141128434..141134875,8	K562	blood:
10	chr3:141085740..141088451-chr3:141128434..141131392,3	K562	blood:
11	chr3:141128423..141130797-chr3:141173455..141176523,3	MCF-7	breast:
12	chr3:141119734..141124291-chr3:141125562..141133374,8	K562	blood:
13	chr3:141029007..141031829-chr3:141128539..141131843,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177311	Chromatin interaction
ENSG00000249417	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13066993	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13067032	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13068065	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13069734	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13091182	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13095453	0.92[CEU][hapmap]
rs2011092	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35225290	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6767786	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6767899	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6785073	1.00[CEU][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6789653	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6807935	0.90[EUR][1000 genomes]
rs726838	0.93[CEU][hapmap]
rs9821337	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9822195	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9822327	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9857275	0.92[CEU][hapmap]
rs9858603	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141122000-141129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:141122000-141130200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:141122000-141131800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:141122200-141129400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:141122600-141130400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:141122600-141130400	Genic enhancers	NH-A	brain
7	chr3:141122800-141129400	Enhancers	Fetal Heart	heart
8	chr3:141123200-141129200	Genic enhancers	Primary T cells fromperipheralblood	blood
9	chr3:141123200-141130400	Genic enhancers	Osteobl	bone
10	chr3:141123200-141130600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:141123200-141130600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:141123800-141129200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:141123800-141129200	Weak transcription	Fetal Brain Female	brain
14	chr3:141123800-141129400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:141123800-141130200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:141123800-141131400	Weak transcription	Thymus	Thymus
17	chr3:141124000-141129400	Weak transcription	Primary T cells from cord blood	blood
18	chr3:141124000-141131000	Weak transcription	Primary B cells from cord blood	blood
19	chr3:141124400-141129200	Genic enhancers	NHLF	lung
20	chr3:141124600-141129200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:141124800-141129000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:141124800-141130000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:141125000-141131000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:141125200-141129600	Genic enhancers	NHDF-Ad	bronchial
25	chr3:141125400-141131200	Weak transcription	Brain Germinal Matrix	brain
26	chr3:141125800-141129000	Weak transcription	Fetal Kidney	kidney
27	chr3:141125800-141130000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:141126000-141130400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:141126000-141130400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:141126600-141130600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr3:141126600-141130600	Enhancers	Right Ventricle	heart
32	chr3:141126600-141131800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr3:141126800-141130200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:141126800-141132000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:141126800-141138000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:141127000-141129000	Weak transcription	HSMMtube	muscle
37	chr3:141127000-141129200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:141127000-141129400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr3:141127000-141131000	Weak transcription	Fetal Brain Male	brain
40	chr3:141127200-141129200	Enhancers	HUVEC	blood vessel
41	chr3:141127200-141129400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:141127200-141130600	Enhancers	Left Ventricle	heart
43	chr3:141127600-141129000	Genic enhancers	Fetal Stomach	stomach
44	chr3:141127600-141129400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:141127600-141129600	Genic enhancers	Rectal Mucosa Donor 31	rectum
46	chr3:141127600-141130400	Enhancers	HepG2	liver
47	chr3:141127600-141131000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:141127600-141131000	Enhancers	Stomach Mucosa	stomach
49	chr3:141127600-141132200	Genic enhancers	Fetal Intestine Small	intestine
50	chr3:141127800-141130200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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