Variant report

Variant	rs1997896
Chromosome Location	chr14:68163157-68163158
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr14:68161292-68163357	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr14:68161300-68163176	IMR90	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68085007..68087641-chr14:68161734..68163830,3	MCF-7	breast:
2	chr14:68153591..68158250-chr14:68160092..68166006,8	K562	blood:
3	chr14:68083940..68087212-chr14:68160289..68163699,4	K562	blood:
4	chr14:68139847..68143415-chr14:68157981..68164641,9	K562	blood:
5	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
6	chr14:68160479..68163286-chr14:68167983..68171190,4	MCF-7	breast:
7	chr14:68139933..68142840-chr14:68159503..68163270,4	K562	blood:
8	chr14:68152032..68159100-chr14:68160764..68163993,10	K562	blood:
9	chr14:68084183..68087028-chr14:68160218..68163936,5	MCF-7	breast:
10	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:
11	chr14:68082006..68084010-chr14:68160991..68163508,2	MCF-7	breast:

No data

Variant related genes	Relation type
RDH11	TF binding region
ENSG00000081181	Chromatin interaction
ENSG00000201529	Chromatin interaction
ENSG00000139988	Chromatin interaction
ENSG00000258466	Chromatin interaction
ENSG00000259648	Chromatin interaction
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10483801	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1120877	0.81[CEU][hapmap]
rs17836809	0.80[JPT][hapmap]
rs4902511	0.81[CEU][hapmap]
rs7149221	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7160527	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1997896	RDH11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68162600-68163200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:68162600-68163200	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:68162600-68163400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr14:68162600-68163800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:68162600-68163800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:68162600-68164400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr14:68162600-68166200	Enhancers	Liver	Liver
8	chr14:68162600-68167000	Weak transcription	Osteobl	bone
9	chr14:68162600-68171400	Weak transcription	Aorta	Aorta
10	chr14:68162600-68171600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:68162800-68163200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr14:68162800-68163200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:68162800-68163200	Enhancers	Brain Angular Gyrus	brain
14	chr14:68162800-68163200	Enhancers	Esophagus	oesophagus
15	chr14:68162800-68163200	Enhancers	Pancreas	Pancrea
16	chr14:68162800-68163200	Enhancers	Right Ventricle	heart
17	chr14:68162800-68163200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr14:68162800-68163200	Enhancers	Hela-S3	cervix
19	chr14:68162800-68163200	Flanking Active TSS	HepG2	liver
20	chr14:68162800-68164000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:68162800-68171000	Weak transcription	A549	lung
22	chr14:68162800-68171200	Weak transcription	K562	blood
23	chr14:68163000-68163200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:68163000-68163200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:68163000-68163200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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