Variant report

Variant	rs4715145
Chromosome Location	chr6:13197581-13197582
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13197054..13199735-chr6:13296855..13299373,2	K562	blood:
2	chr6:13195285..13198115-chr6:13330626..13333611,2	K562	blood:
3	chr6:13196170..13199973-chr6:13613936..13615929,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225921	Chromatin interaction
ENSG00000261071	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10948504	0.94[GIH][hapmap];0.81[TSI][hapmap]
rs1150595	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1150598	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1150600	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs11760186	0.95[CEU][hapmap]
rs12193156	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12198274	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1223562	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1223563	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1232378	0.81[EUR][1000 genomes]
rs12526983	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13191209	0.91[EUR][1000 genomes]
rs13206277	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34624425	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35207258	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3916163	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs4711936	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4715146	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4715147	1.00[CEU][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4715150	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62385558	0.89[AMR][1000 genomes];0.94[EUR][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	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4715145	ELOVL2	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13178800-13217400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:13182000-13205400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:13182000-13211800	Weak transcription	Fetal Brain Female	brain
4	chr6:13182000-13212000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:13182000-13230000	Weak transcription	Brain Angular Gyrus	brain
6	chr6:13183000-13207000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:13184000-13220800	Weak transcription	Brain Germinal Matrix	brain
8	chr6:13185000-13202800	Weak transcription	Brain Anterior Caudate	brain
9	chr6:13185200-13204000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:13185200-13205200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:13185400-13204800	Weak transcription	Lung	lung
12	chr6:13185400-13205800	Weak transcription	Aorta	Aorta
13	chr6:13185400-13205800	Weak transcription	Pancreas	Pancrea
14	chr6:13187400-13217400	Weak transcription	Right Atrium	heart
15	chr6:13191200-13204400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:13191800-13210800	Weak transcription	Fetal Heart	heart
17	chr6:13192000-13205600	Weak transcription	Right Ventricle	heart
18	chr6:13192400-13216800	Weak transcription	Fetal Intestine Small	intestine
19	chr6:13193400-13205400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:13195400-13197600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:13195600-13201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:13195600-13205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:13195800-13206200	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:13195800-13207400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:13196000-13198400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:13197000-13197800	Strong transcription	Stomach Smooth Muscle	stomach
27	chr6:13197000-13198400	Strong transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links