Variant report

Variant	rs1697168
Chromosome Location	chr5:14264661-14264662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14010058..14012896-chr5:14263995..14266243,3	MCF-7	breast:
2	chr5:14250457..14253122-chr5:14263365..14265859,2	K562	blood:
3	chr5:14255845..14258384-chr5:14262309..14265414,3	MCF-7	breast:
4	chr5:14263429..14265117-chr5:14272580..14275150,2	K562	blood:
5	chr5:14260701..14263279-chr5:14263395..14266329,3	K562	blood:
6	chr5:14152278..14154256-chr5:14262116..14264900,2	MCF-7	breast:
7	chr5:14264035..14266359-chr5:14267149..14269027,3	MCF-7	breast:
8	chr5:14142083..14147002-chr5:14262644..14273159,29	MCF-7	breast:
9	chr5:14151730..14153750-chr5:14264012..14266030,2	MCF-7	breast:
10	chr5:14264366..14264966-chr6:26157493..26158137,2	Hela-S3	cervix:
11	chr5:14142928..14148372-chr5:14263664..14268038,8	MCF-7	breast:
12	chr5:14264363..14267106-chr5:14269370..14271398,3	K562	blood:
13	chr5:14238501..14240091-chr5:14263372..14265550,2	K562	blood:
14	chr5:14193728..14196151-chr5:14263145..14265627,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11133785	0.83[EUR][1000 genomes]
rs16903375	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903389	0.95[EUR][1000 genomes]
rs1697170	0.97[EUR][1000 genomes]
rs2463803	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58383010	0.95[EUR][1000 genomes]
rs60768136	0.83[EUR][1000 genomes]
rs62344973	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62344976	0.83[EUR][1000 genomes]
rs62346588	1.00[EUR][1000 genomes]
rs62346590	0.95[EUR][1000 genomes]
rs6879505	0.95[EUR][1000 genomes]
rs6887831	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs696290	0.83[EUR][1000 genomes]
rs697558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs697559	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7710935	0.83[EUR][1000 genomes]
rs7731443	0.83[EUR][1000 genomes]
rs7732548	1.00[EUR][1000 genomes]
rs773764	1.00[EUR][1000 genomes]
rs773765	1.00[EUR][1000 genomes]
rs773766	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14256400-14265400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:14257200-14264800	Weak transcription	Stomach Mucosa	stomach
3	chr5:14257200-14265000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:14258800-14265000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:14259000-14268400	Weak transcription	Esophagus	oesophagus
6	chr5:14259200-14265000	Weak transcription	Colonic Mucosa	Colon
7	chr5:14259200-14267400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:14259200-14268400	Weak transcription	Spleen	Spleen
9	chr5:14259200-14268600	Weak transcription	Gastric	stomach
10	chr5:14259600-14264800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:14259600-14265000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:14259800-14264800	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:14260400-14265000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:14261600-14264800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:14261600-14264800	Weak transcription	Placenta	Placenta
16	chr5:14261600-14265000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:14261600-14268200	Weak transcription	Small Intestine	intestine
18	chr5:14261800-14265000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:14261800-14265000	Weak transcription	Aorta	Aorta
20	chr5:14261800-14268600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:14262000-14265000	Enhancers	HMEC	breast
22	chr5:14262200-14264800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:14262200-14266000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:14262200-14270800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:14262400-14264800	Weak transcription	Brain Angular Gyrus	brain
26	chr5:14262400-14265000	Enhancers	NHDF-Ad	bronchial
27	chr5:14262400-14268400	Weak transcription	Right Ventricle	heart
28	chr5:14262600-14264800	Enhancers	Osteobl	bone
29	chr5:14262600-14267400	Weak transcription	Lung	lung
30	chr5:14262600-14268600	Weak transcription	Pancreas	Pancrea
31	chr5:14262800-14264800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr5:14262800-14265000	Weak transcription	Fetal Heart	heart
33	chr5:14263000-14265200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:14263000-14266200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:14263000-14266200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:14263000-14266200	Weak transcription	Left Ventricle	heart
37	chr5:14263200-14264800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:14263600-14264800	Flanking Active TSS	NHEK	skin
39	chr5:14263600-14265000	Enhancers	HSMMtube	muscle
40	chr5:14263800-14264800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr5:14263800-14265000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr5:14264000-14264800	Enhancers	HSMM	muscle
43	chr5:14264000-14265000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:14264000-14265000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:14264000-14265000	Weak transcription	NHLF	lung
46	chr5:14264200-14264800	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:14264200-14265200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:14264400-14264800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr5:14264400-14264800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr5:14264400-14264800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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