Variant report

Variant	rs799025
Chromosome Location	chr5:14285795-14285796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14284680..14287380-chr5:14290475..14293181,2	K562	blood:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13175673	1.00[ASN][1000 genomes]
rs164861	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17302408	1.00[ASN][1000 genomes]
rs187125	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434605	1.00[ASN][1000 genomes]
rs245577	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2591277	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2607077	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607078	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2697663	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30616	1.00[ASN][1000 genomes]
rs30617	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30619	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30620	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354305	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354308	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39856	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42485	1.00[ASN][1000 genomes]
rs706271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773701	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773763	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897724	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897726	0.98[EUR][1000 genomes];1.00[ASN][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	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
2	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
3	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
4	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14265200-14293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:14265400-14286600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:14268600-14291000	Weak transcription	Fetal Kidney	kidney
4	chr5:14269200-14286400	Weak transcription	Pancreas	Pancrea
5	chr5:14269200-14286600	Weak transcription	Spleen	Spleen
6	chr5:14270200-14290800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:14270400-14286400	Weak transcription	Fetal Intestine Small	intestine
8	chr5:14270400-14286800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:14270400-14288800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:14270400-14289400	Weak transcription	Gastric	stomach
11	chr5:14270400-14293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
14	chr5:14270800-14286800	Weak transcription	Fetal Brain Male	brain
15	chr5:14270800-14293000	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:14271000-14295800	Weak transcription	Brain Angular Gyrus	brain
17	chr5:14276800-14290800	Weak transcription	Esophagus	oesophagus
18	chr5:14277200-14291000	Weak transcription	Brain Anterior Caudate	brain
19	chr5:14277800-14286800	Weak transcription	Brain Substantia Nigra	brain
20	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:14278600-14285800	Strong transcription	HSMM	muscle
22	chr5:14278600-14296200	Strong transcription	NH-A	brain
23	chr5:14279600-14295600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:14279800-14287800	Enhancers	Fetal Heart	heart
25	chr5:14279800-14287800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr5:14279800-14293200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:14279800-14294600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:14280000-14286200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:14280000-14295000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:14280800-14286800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr5:14281000-14285800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:14281000-14287000	Weak transcription	Placenta	Placenta
33	chr5:14281400-14286000	Weak transcription	NHEK	skin
34	chr5:14281400-14291000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:14281600-14286200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr5:14282000-14287400	Weak transcription	Fetal Intestine Large	intestine
37	chr5:14282200-14285800	Strong transcription	Osteobl	bone
38	chr5:14282200-14286200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:14282200-14286400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:14282200-14286800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:14282200-14287200	Weak transcription	Lung	lung
42	chr5:14282200-14290000	Weak transcription	Fetal Thymus	thymus
43	chr5:14282400-14286600	Weak transcription	Adipose Nuclei	Adipose
44	chr5:14282400-14287000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:14282400-14293400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr5:14283000-14287000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:14283200-14286200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:14283200-14286200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr5:14283400-14286800	Weak transcription	Liver	Liver

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