Variant report

Variant	rs72688831
Chromosome Location	chr14:78272490-78272491
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78265266..78267437-chr14:78271460..78273740,2	K562	blood:
2	chr14:78266261..78268585-chr14:78272111..78274515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1076496	0.81[ASN][1000 genomes]
rs12432030	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12587155	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12587584	0.82[AMR][1000 genomes]
rs12587825	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12590320	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12880300	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12880840	0.97[ASN][1000 genomes]
rs12886631	0.80[ASN][1000 genomes]
rs12892669	0.80[ASN][1000 genomes]
rs2267755	0.81[ASN][1000 genomes]
rs2270443	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2299931	0.80[ASN][1000 genomes]
rs35657726	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4540996	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4899676	0.84[AMR][1000 genomes]
rs4903644	0.97[ASN][1000 genomes]
rs4903647	0.83[ASN][1000 genomes]
rs67408612	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7145979	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8022886	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][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	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78284800	Weak transcription	Brain Angular Gyrus	brain
2	chr14:78267200-78285200	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:78267200-78285200	Weak transcription	Fetal Stomach	stomach
4	chr14:78267200-78285400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:78267200-78285400	Weak transcription	Lung	lung
6	chr14:78267200-78288200	Weak transcription	Spleen	Spleen
7	chr14:78267200-78288800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
9	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
10	chr14:78267400-78272800	Weak transcription	Stomach Mucosa	stomach
11	chr14:78267400-78285000	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:78267400-78285000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:78267400-78285200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:78267400-78285400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:78267600-78285000	Weak transcription	Primary T cells from cord blood	blood
16	chr14:78267600-78285400	Weak transcription	Brain Substantia Nigra	brain
17	chr14:78267800-78285400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:78268800-78272600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:78268800-78272800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:78269800-78274400	Weak transcription	K562	blood
21	chr14:78270800-78288400	Weak transcription	Fetal Intestine Small	intestine
22	chr14:78270800-78288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:78272400-78273000	Enhancers	Psoas Muscle	Psoas
24	chr14:78272400-78273400	Enhancers	Left Ventricle	heart
25	chr14:78272400-78285200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links