Variant report

Variant	rs74067991
Chromosome Location	chr14:79760305-79760306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:79759760-79760311	H1-neurons	neurons:	n/a	n/a
2	REST	chr14:79759558-79760525	H1-neurons	neurons:	n/a	chr14:79760078-79760091

Variant related genes	Relation type
NRXN3	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17109019	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1868636	1.00[AMR][1000 genomes]
rs60679807	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61387635	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153825	1.00[AMR][1000 genomes]
rs7161402	1.00[AMR][1000 genomes]
rs74067963	1.00[AMR][1000 genomes]
rs74067968	1.00[AMR][1000 genomes]
rs74067969	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74067989	0.92[AFR][1000 genomes]
rs74067995	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74067998	1.00[AMR][1000 genomes]
rs74069723	1.00[AMR][1000 genomes]
rs74069731	1.00[AMR][1000 genomes]
rs74069736	1.00[AMR][1000 genomes]
rs8004460	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79750200-79760400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:79756200-79768600	Weak transcription	Aorta	Aorta
3	chr14:79759200-79760400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr14:79759400-79761200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:79759400-79762800	Enhancers	Colon Smooth Muscle	Colon
6	chr14:79759600-79760400	Enhancers	Brain Germinal Matrix	brain
7	chr14:79759600-79760600	Enhancers	Fetal Brain Male	brain
8	chr14:79759600-79761600	Enhancers	Rectal Smooth Muscle	rectum
9	chr14:79759800-79760400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:79759800-79760400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:79759800-79760400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:79759800-79760400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:79759800-79760600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr14:79759800-79760600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr14:79760000-79760400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr14:79760000-79760400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr14:79760000-79760600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:79760000-79761400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr14:79760200-79760400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:79760200-79760400	Active TSS	Brain Cingulate Gyrus	brain
21	chr14:79760200-79760400	Enhancers	Brain Hippocampus Middle	brain
22	chr14:79760200-79760400	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr14:79760200-79761000	Weak transcription	Fetal Kidney	kidney
24	chr14:79760200-79761200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links