Variant report

Variant	rs255749
Chromosome Location	chr5:53318596-53318597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:53318073..53320029-chr5:53321875..53324645,4	K562	blood:
2	chr5:53317383..53319420-chr5:53606124..53608735,2	K562	blood:
3	chr5:53317328..53319798-chr5:53320168..53323539,4	K562	blood:
4	chr5:53306604..53309631-chr5:53315795..53318869,3	K562	blood:

Variant related genes	Relation type
ENSG00000185305	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs194281	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs255747	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs255748	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs255750	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs255751	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs255753	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs255754	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs255758	0.85[ASN][1000 genomes]
rs255760	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs31127	0.96[ASN][1000 genomes]
rs373284	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs406517	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs426659	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697109	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1032504	chr5:52908394-53398435	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv537763	chr5:52908394-53398435	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv880713	chr5:53198059-53906103	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv830299	chr5:53207020-53386600	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv881265	chr5:53305742-53504764	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv880619	chr5:53305742-53525671	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
9	nsv881616	chr5:53305742-53639975	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv881018	chr5:53305742-53744849	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv880734	chr5:53305742-53770217	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
12	nsv881161	chr5:53305742-53815495	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
13	nsv881600	chr5:53305742-53823285	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
14	nsv598176	chr5:53311502-53739530	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
15	nsv880773	chr5:53311918-53815495	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
16	nsv1024303	chr5:53317896-53788276	Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
17	nsv1029224	chr5:53317896-53812899	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
18	nsv949098	chr5:53317990-53816782	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53310600-53336000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:53314600-53321800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:53316200-53335200	Weak transcription	Gastric	stomach
4	chr5:53316200-53387400	Weak transcription	Left Ventricle	heart
5	chr5:53316400-53319600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:53316400-53324000	Weak transcription	Primary B cells from cord blood	blood
7	chr5:53316800-53318800	Flanking Active TSS	Dnd41	blood
8	chr5:53317000-53318600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:53317000-53318600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:53317000-53318800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:53317000-53319000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:53317200-53318600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr5:53317400-53318600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:53317400-53318600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:53317400-53318600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:53317400-53318600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:53317400-53318600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:53317400-53318600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr5:53317400-53318600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:53317400-53318800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:53317400-53318800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:53317400-53318800	Enhancers	Primary T cells from cord blood	blood
23	chr5:53317400-53319000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:53317400-53319000	Enhancers	Primary hematopoietic stem cells	blood
25	chr5:53317600-53318600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:53317600-53318600	Enhancers	Fetal Heart	heart
27	chr5:53317600-53318800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr5:53317600-53319000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr5:53317600-53319800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:53317800-53318600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:53317800-53318800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr5:53318000-53318600	Enhancers	Fetal Intestine Small	intestine
33	chr5:53318000-53318800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr5:53318000-53319600	Enhancers	Fetal Intestine Large	intestine
35	chr5:53318000-53337200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:53318200-53318600	Enhancers	Small Intestine	intestine
37	chr5:53318200-53319000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:53318200-53319400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:53318200-53319600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:53318200-53319800	Enhancers	K562	blood
41	chr5:53318200-53319800	Weak transcription	NHDF-Ad	bronchial
42	chr5:53318200-53319800	Weak transcription	Osteobl	bone
43	chr5:53318200-53320000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:53318200-53320000	Weak transcription	NHEK	skin
45	chr5:53318200-53329200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:53318400-53318800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:53318400-53319400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:53318400-53319800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr5:53318400-53319800	Weak transcription	HMEC	breast
50	chr5:53318400-53319800	Weak transcription	NHLF	lung

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