Variant report

Variant	rs2463803
Chromosome Location	chr5:14253070-14253071
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	chr5:14250457..14253122-chr5:14263365..14265859,2	K562	blood:
2	chr5:14141623..14144642-chr5:14252312..14255113,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11133785	0.85[EUR][1000 genomes]
rs11949756	0.85[CEU][hapmap]
rs11950000	0.85[CEU][hapmap]
rs12109756	0.85[CEU][hapmap]
rs12110161	0.85[CEU][hapmap]
rs16903375	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs16903389	0.93[EUR][1000 genomes]
rs16903421	0.82[CEU][hapmap]
rs16903453	0.82[CEU][hapmap]
rs16903460	0.85[CEU][hapmap]
rs16903464	0.85[CEU][hapmap]
rs1697168	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1697170	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs26290	0.81[YRI][hapmap]
rs26292	0.82[CEU][hapmap]
rs27367	0.82[CEU][hapmap]
rs27632	0.82[CEU][hapmap]
rs27666	0.82[CEU][hapmap]
rs33028	0.81[YRI][hapmap]
rs33029	0.82[CEU][hapmap]
rs348116	0.82[CEU][hapmap]
rs40298	0.82[CEU][hapmap]
rs58383010	0.93[EUR][1000 genomes]
rs60768136	0.85[EUR][1000 genomes]
rs62344973	0.93[EUR][1000 genomes]
rs62344976	0.85[EUR][1000 genomes]
rs62346588	0.97[EUR][1000 genomes]
rs62346590	0.93[EUR][1000 genomes]
rs6879505	0.93[EUR][1000 genomes]
rs6887831	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs696290	0.85[EUR][1000 genomes]
rs697558	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs697559	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7710935	0.85[EUR][1000 genomes]
rs7731443	0.85[EUR][1000 genomes]
rs7732548	0.97[EUR][1000 genomes]
rs773764	1.00[CEU][hapmap];0.81[YRI][hapmap];0.97[EUR][1000 genomes]
rs773765	1.00[CEU][hapmap];0.81[YRI][hapmap];0.97[EUR][1000 genomes]
rs773766	1.00[CEU][hapmap];0.97[EUR][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	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
2	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
3	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
4	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14247200-14256800	Weak transcription	Stomach Mucosa	stomach
2	chr5:14247400-14254600	Weak transcription	Hela-S3	cervix
3	chr5:14247400-14257000	Weak transcription	Gastric	stomach
4	chr5:14248400-14253800	Enhancers	Fetal Muscle Trunk	muscle
5	chr5:14248400-14255400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:14248600-14255000	Enhancers	Psoas Muscle	Psoas
7	chr5:14248800-14253800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:14248800-14254000	Enhancers	Fetal Thymus	thymus
9	chr5:14249400-14253200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:14249400-14253200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:14249400-14253200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:14249400-14254800	Enhancers	Lung	lung
13	chr5:14249600-14256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:14250000-14254000	Enhancers	Thymus	Thymus
15	chr5:14250600-14255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:14250800-14253200	Enhancers	Adipose Nuclei	Adipose
17	chr5:14250800-14253200	Enhancers	Brain Anterior Caudate	brain
18	chr5:14250800-14253800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:14250800-14253800	Weak transcription	K562	blood
20	chr5:14250800-14255200	Weak transcription	NHDF-Ad	bronchial
21	chr5:14250800-14256200	Weak transcription	Small Intestine	intestine
22	chr5:14250800-14256400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:14250800-14256800	Weak transcription	Ovary	ovary
24	chr5:14250800-14257000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:14251200-14253200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:14251200-14256200	Weak transcription	HepG2	liver
27	chr5:14251400-14253800	Weak transcription	HUVEC	blood vessel
28	chr5:14251400-14254200	Weak transcription	Fetal Intestine Small	intestine
29	chr5:14251400-14255000	Enhancers	Left Ventricle	heart
30	chr5:14251400-14255200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr5:14251400-14257200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:14251600-14255200	Weak transcription	Osteobl	bone
33	chr5:14251800-14253800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:14251800-14254600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:14251800-14254600	Weak transcription	Spleen	Spleen
36	chr5:14251800-14254600	Weak transcription	HSMMtube	muscle
37	chr5:14251800-14254600	Weak transcription	NH-A	brain
38	chr5:14251800-14255200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:14251800-14256400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:14251800-14257200	Weak transcription	Brain Angular Gyrus	brain
41	chr5:14252000-14253200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:14252000-14255200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:14252000-14255200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr5:14252000-14256000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:14252000-14256400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr5:14252000-14256400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr5:14252000-14256800	Weak transcription	Fetal Stomach	stomach
48	chr5:14252000-14258200	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:14252200-14253200	Enhancers	Aorta	Aorta
50	chr5:14252200-14254200	Enhancers	Fetal Heart	heart

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