Variant report

Variant	rs56245630
Chromosome Location	chr14:77714185-77714186
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	chr14:77712852..77714702-chr14:77715843..77718574,2	K562	blood:

Variant related genes	Relation type
ENSG00000165548	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17105594	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2287383	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2287385	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs425310	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55903932	0.82[EUR][1000 genomes]
rs55923743	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56753733	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59262654	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67130018	0.82[EUR][1000 genomes]
rs67366981	0.82[EUR][1000 genomes]
rs8003060	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8003151	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8003177	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8004209	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8006117	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8006676	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8006732	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8007762	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1361	chr14:77707417-77753024	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77697600-77726800	Weak transcription	Brain Substantia Nigra	brain
2	chr14:77698400-77720000	Weak transcription	Pancreas	Pancrea
3	chr14:77704800-77719200	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:77705600-77714400	Weak transcription	Brain Anterior Caudate	brain
5	chr14:77708400-77720600	Strong transcription	Fetal Brain Female	brain
6	chr14:77708600-77714800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:77709000-77718400	Strong transcription	Brain Inferior Temporal Lobe	brain
8	chr14:77709800-77729600	Weak transcription	Fetal Brain Male	brain
9	chr14:77710600-77714600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:77711000-77717600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:77711200-77731000	Weak transcription	Spleen	Spleen
12	chr14:77711800-77714800	Weak transcription	Brain Germinal Matrix	brain
13	chr14:77712400-77720800	Strong transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:77712800-77714400	Weak transcription	Esophagus	oesophagus
15	chr14:77712800-77720800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:77713000-77714600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:77713000-77715400	Weak transcription	Fetal Intestine Small	intestine
18	chr14:77713200-77714800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:77713200-77726800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:77713400-77714200	Weak transcription	Brain Angular Gyrus	brain
21	chr14:77713400-77720200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:77713400-77720200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:77714000-77723400	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links