Variant report

Variant	rs2485788
Chromosome Location	chr13:38926390-38926391
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:38917886..38920151-chr13:38925868..38928712,2	K562	blood:
2	chr13:38922765..38925249-chr13:38925440..38927480,2	K562	blood:
3	chr13:38924316..38926531-chr13:38938318..38940718,2	MCF-7	breast:
4	chr13:38915558..38922004-chr13:38925835..38933064,8	K562	blood:
5	chr13:38926354..38928723-chr13:38929621..38932377,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120686	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1360385	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1553300	0.81[EUR][1000 genomes]
rs2019520	0.81[EUR][1000 genomes]
rs2150468	0.81[EUR][1000 genomes]
rs2231323	0.81[EUR][1000 genomes]
rs2231328	0.81[EUR][1000 genomes]
rs2231330	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2231332	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2481877	0.81[EUR][1000 genomes]
rs2481879	0.81[EUR][1000 genomes]
rs2481880	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2485783	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2485789	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2496473	0.81[EUR][1000 genomes]
rs2496475	0.81[EUR][1000 genomes]
rs2496476	0.81[EUR][1000 genomes]
rs6563608	0.81[EUR][1000 genomes]
rs6563609	0.81[EUR][1000 genomes]
rs9548318	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv561512	chr13:38881318-38930893	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv900005	chr13:38881318-38932949	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv976234	chr13:38924727-38933604	Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv900006	chr13:38924871-38970825	Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 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	chr13:38924400-38938800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:38924800-38936400	Weak transcription	Esophagus	oesophagus
3	chr13:38924800-38937000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:38924800-38937200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:38924800-38937400	Weak transcription	Gastric	stomach
6	chr13:38924800-38939000	Weak transcription	Lung	lung
7	chr13:38924800-38939400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:38925000-38936800	Weak transcription	Aorta	Aorta
9	chr13:38925000-38937400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:38925200-38928400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr13:38925200-38928800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:38925200-38929000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:38925200-38939600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr13:38925400-38927200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr13:38925400-38927400	Strong transcription	K562	blood
16	chr13:38925400-38927800	Weak transcription	Fetal Kidney	kidney
17	chr13:38925400-38927800	Weak transcription	Fetal Thymus	thymus
18	chr13:38925400-38928000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr13:38925400-38928200	Weak transcription	HSMMtube	muscle
20	chr13:38925400-38928400	Weak transcription	Left Ventricle	heart
21	chr13:38925400-38929000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:38925400-38931800	Strong transcription	Placenta	Placenta
23	chr13:38925400-38934800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr13:38925400-38937200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr13:38925400-38937200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:38925400-38937800	Weak transcription	Pancreas	Pancrea
27	chr13:38925600-38928400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr13:38925600-38928800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr13:38925600-38929000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr13:38925600-38929000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:38925600-38931000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr13:38925600-38931800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr13:38925600-38937800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr13:38925600-38938000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:38925600-38938000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr13:38925600-38939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:38925800-38930000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr13:38925800-38931400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr13:38925800-38931800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:38925800-38935600	Weak transcription	Stomach Mucosa	stomach
41	chr13:38925800-38935800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr13:38925800-38938400	Weak transcription	Fetal Stomach	stomach
43	chr13:38925800-38939000	Weak transcription	Spleen	Spleen
44	chr13:38925800-38939400	Weak transcription	Thymus	Thymus
45	chr13:38925800-38939800	Weak transcription	Small Intestine	intestine
46	chr13:38926000-38926600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr13:38926000-38926600	Genic enhancers	Fetal Muscle Leg	muscle
48	chr13:38926000-38926600	Enhancers	NHLF	lung
49	chr13:38926000-38926800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr13:38926000-38926800	Weak transcription	Liver	Liver

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