Variant report

Variant	rs245513
Chromosome Location	chr5:14200762-14200763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs152781	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs164109	0.81[YRI][hapmap]
rs2463803	0.81[YRI][hapmap]
rs26290	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26292	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27367	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27632	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27666	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs32976	1.00[CEU][hapmap]
rs32977	1.00[CEU][hapmap]
rs32978	1.00[CEU][hapmap]
rs32979	1.00[CEU][hapmap]
rs33028	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33029	1.00[CEU][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33030	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];0.94[EUR][1000 genomes]
rs348113	1.00[CEU][hapmap]
rs348116	1.00[CEU][hapmap]
rs40298	1.00[CEU][hapmap]
rs42289	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62344640	0.97[EUR][1000 genomes]
rs62346562	0.94[EUR][1000 genomes]
rs696289	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs696290	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs773764	0.82[ASW][hapmap]
rs773765	0.82[ASW][hapmap]

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	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv1792551	chr5:14180257-14202590	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14184600-14202600	Weak transcription	Fetal Intestine Small	intestine
2	chr5:14188800-14204000	Weak transcription	Fetal Kidney	kidney
3	chr5:14189000-14203600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:14191400-14202600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:14191600-14202200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr5:14191800-14201600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:14192200-14208000	Weak transcription	Hela-S3	cervix
8	chr5:14193800-14200800	Genic enhancers	HSMM	muscle
9	chr5:14194800-14202200	Weak transcription	Primary B cells from cord blood	blood
10	chr5:14196600-14200800	Enhancers	Psoas Muscle	Psoas
11	chr5:14196600-14200800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr5:14197000-14202600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:14197000-14203800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:14197000-14204800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:14197200-14201200	Enhancers	Fetal Thymus	thymus
16	chr5:14197400-14203800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:14197400-14203800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:14197600-14201600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:14197600-14202800	Weak transcription	Fetal Brain Female	brain
20	chr5:14197600-14203800	Weak transcription	Gastric	stomach
21	chr5:14197600-14204800	Weak transcription	Fetal Lung	lung
22	chr5:14198000-14203400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:14198000-14203800	Weak transcription	NHEK	skin
24	chr5:14198600-14201600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:14198600-14203800	Weak transcription	HMEC	breast
26	chr5:14198600-14204600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:14198800-14201000	Enhancers	Thymus	Thymus
28	chr5:14198800-14202600	Enhancers	HUVEC	blood vessel
29	chr5:14198800-14203400	Enhancers	A549	lung
30	chr5:14199000-14200800	Enhancers	Ovary	ovary
31	chr5:14199000-14200800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr5:14199000-14201000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:14199000-14202600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr5:14199200-14200800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:14199200-14200800	Enhancers	Colon Smooth Muscle	Colon
36	chr5:14199400-14202600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:14199600-14200800	Enhancers	Brain Angular Gyrus	brain
38	chr5:14199600-14200800	Enhancers	Brain Germinal Matrix	brain
39	chr5:14199600-14200800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:14199600-14200800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr5:14199600-14201000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:14199600-14201200	Enhancers	Left Ventricle	heart
43	chr5:14199600-14204000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:14199600-14204800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:14199600-14205000	Enhancers	HSMMtube	muscle
46	chr5:14199600-14205000	Enhancers	Osteobl	bone
47	chr5:14199800-14200800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:14199800-14200800	Enhancers	Small Intestine	intestine
49	chr5:14199800-14201000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:14199800-14201000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links