Variant report

Variant	rs8019754
Chromosome Location	chr14:77967610-77967611
allele	C/T
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	RXRA	chr14:77967377-77967750	HepG2	liver:	n/a	n/a
2	REST	chr14:77967478-77967625	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77786622..77788558-chr14:77966272..77968373,2	MCF-7	breast:

Variant related genes	Relation type
ISM2	TF binding region
ENSG00000100577	Chromatin interaction
ENSG00000009830	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10130138	0.81[AFR][1000 genomes]
rs10132095	0.96[AFR][1000 genomes]
rs10873306	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11844239	1.00[AMR][1000 genomes]
rs2364159	0.83[AMR][1000 genomes]
rs2364160	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4145507	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6574375	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6574378	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6574380	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7157218	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7159082	0.94[AFR][1000 genomes]
rs760258	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs926114	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77965600-77977600	Weak transcription	Aorta	Aorta
2	chr14:77965800-77974600	Weak transcription	A549	lung
3	chr14:77966000-77973400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:77966000-77977400	Weak transcription	HMEC	breast
5	chr14:77966200-77970600	Weak transcription	HSMM	muscle
6	chr14:77966400-77972800	Weak transcription	Esophagus	oesophagus
7	chr14:77966400-77974000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:77966400-77976800	Weak transcription	Spleen	Spleen
9	chr14:77966400-77977000	Weak transcription	Pancreas	Pancrea
10	chr14:77966400-77977600	Weak transcription	Gastric	stomach
11	chr14:77966600-77977000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:77966600-77977600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:77966600-77977800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:77966800-77972600	Weak transcription	Osteobl	bone
15	chr14:77966800-77972800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:77966800-77973200	Weak transcription	Placenta	Placenta
17	chr14:77967000-77974200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:77967200-77970000	Enhancers	HepG2	liver
19	chr14:77967200-77971600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:77967200-77972600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:77967200-77978000	Weak transcription	Stomach Mucosa	stomach
22	chr14:77967400-77974600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:77967400-77977000	Weak transcription	NH-A	brain
24	chr14:77967600-77969400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:77967600-77969600	Weak transcription	Fetal Intestine Small	intestine
26	chr14:77967600-77972200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:77967600-77972600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:77967600-77972600	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links