Variant report

Variant	rs1695778
Chromosome Location	chr14:65243476-65243477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65242147..65244989-chr14:65249995..65252297,2	K562	blood:
2	chr14:65240103..65245460-chr14:65248143..65253609,8	MCF-7	breast:
3	chr14:65234409..65236355-chr14:65242728..65245039,2	K562	blood:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11627632	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17102073	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1741490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2012515	0.86[CHB][hapmap]
rs6573571	1.00[CHB][hapmap]
rs911001	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs94788	0.86[CHB][hapmap]
rs94789	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv902025	chr14:65229364-65246181	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1695778	RAB15	cis	occipital cortex	BrainEAC

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65229600-65246200	Weak transcription	Psoas Muscle	Psoas
3	chr14:65231600-65244000	Strong transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:65231600-65244400	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:65231600-65250600	Weak transcription	Brain Angular Gyrus	brain
6	chr14:65231600-65250600	Weak transcription	Brain Anterior Caudate	brain
7	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:65232000-65246000	Weak transcription	Pancreas	Pancrea
9	chr14:65232200-65244600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:65232200-65274200	Weak transcription	Gastric	stomach
11	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
12	chr14:65240000-65243600	Weak transcription	Fetal Heart	heart
13	chr14:65240200-65245600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:65240400-65262800	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:65240600-65244200	Strong transcription	Fetal Muscle Leg	muscle
16	chr14:65241400-65244200	Weak transcription	Spleen	Spleen
17	chr14:65241400-65244800	Weak transcription	Fetal Brain Female	brain
18	chr14:65242000-65251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:65242200-65250400	Weak transcription	Brain Germinal Matrix	brain
20	chr14:65242400-65243600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:65242400-65243800	Weak transcription	Left Ventricle	heart
22	chr14:65242400-65243800	Weak transcription	Right Ventricle	heart
23	chr14:65242400-65252600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:65242600-65243800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr14:65242600-65248800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:65243400-65244400	Strong transcription	K562	blood

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