Variant report

Variant	rs230723
Chromosome Location	chr14:65316017-65316018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65312151..65316310-chr14:65346214..65348556,3	K562	blood:
2	chr14:65310132..65313690-chr14:65314321..65317713,3	K562	blood:
3	chr14:65315035..65317899-chr14:65322274..65327051,4	MCF-7	breast:
4	chr14:65313975..65316632-chr14:65343546..65346097,2	MCF-7	breast:
5	chr14:65310132..65314457-chr14:65315119..65319141,7	K562	blood:
6	chr14:65315994..65317932-chr14:65325129..65327129,2	K562	blood:
7	chr14:65301529..65304426-chr14:65315345..65318109,2	K562	blood:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10121	1.00[CHB][hapmap]
rs10144554	0.95[TSI][hapmap]
rs12433757	0.85[CEU][hapmap]
rs12435626	0.85[CEU][hapmap];0.90[TSI][hapmap]
rs12436545	0.85[CEU][hapmap]
rs17102190	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs17102258	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17180385	1.00[CEU][hapmap]
rs17180532	0.85[CEU][hapmap]
rs17767870	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957416	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2181127	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2269292	0.90[TSI][hapmap]
rs2269293	0.86[TSI][hapmap]
rs2273475	0.85[CEU][hapmap]
rs2285003	0.85[CEU][hapmap]
rs229669	1.00[CEU][hapmap]
rs230698	0.87[ASW][hapmap];0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs230700	0.87[ASW][hapmap];0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs230701	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs230715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs230718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372933	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs380741	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3819918	0.85[CEU][hapmap];0.89[TSI][hapmap]
rs4902325	0.95[TSI][hapmap]
rs61012404	0.82[EUR][1000 genomes]
rs6573571	0.85[CEU][hapmap]
rs6573581	0.95[TSI][hapmap]
rs66511472	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66883381	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7144515	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7144637	0.82[EUR][1000 genomes]
rs72625636	0.97[ASN][1000 genomes]
rs72625637	0.97[ASN][1000 genomes]
rs72625638	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72625640	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72625641	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72625642	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72625643	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72625644	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72625645	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72625646	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72625647	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72625648	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73279812	0.82[EUR][1000 genomes]
rs73279816	0.82[EUR][1000 genomes]
rs73279823	0.82[EUR][1000 genomes]
rs73279833	0.82[EUR][1000 genomes]
rs73279834	0.82[EUR][1000 genomes]
rs763346	0.95[TSI][hapmap]

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	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs230723	RAB15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65311800-65318200	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr14:65312800-65316600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:65314400-65317400	Enhancers	GM12878-XiMat	blood
4	chr14:65314600-65318800	Weak transcription	Right Atrium	heart
5	chr14:65314800-65317000	Weak transcription	Psoas Muscle	Psoas
6	chr14:65314800-65318000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:65314800-65318800	Weak transcription	Fetal Heart	heart
8	chr14:65314800-65319000	Weak transcription	Right Ventricle	heart
9	chr14:65315000-65318800	Weak transcription	K562	blood
10	chr14:65315400-65316400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:65315400-65324600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:65316000-65316200	Enhancers	Left Ventricle	heart

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