Variant report

Variant	rs10131497
Chromosome Location	chr14:72939735-72939736
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	CTCF	chr14:72939720-72939870	AG04449	skin:	n/a	chr14:72939744-72939753
2	CTCF	chr14:72939700-72939850	HPF	lung:	n/a	chr14:72939744-72939753
3	CTCF	chr14:72939700-72939850	GM12872	blood:	n/a	chr14:72939744-72939753
4	CTCF	chr14:72939680-72939830	AG04450	lung:	n/a	chr14:72939744-72939753
5	CTCF	chr14:72939706-72939773	K562	blood:	n/a	chr14:72939744-72939753
6	CTCF	chr14:72939549-72939886	MCF-7	breast:	n/a	chr14:72939744-72939753
7	CTCF	chr14:72939680-72939830	HRPEpiC	eye:	n/a	chr14:72939744-72939753
8	CTCF	chr14:72939700-72939850	HVMF	connective:	n/a	chr14:72939744-72939753
9	CTCF	chr14:72939468-72939931	A549	lung:	n/a	chr14:72939744-72939753
10	CTCF	chr14:72939660-72939810	HCPEpiC	choroid plexus:	n/a	chr14:72939744-72939753
11	CTCF	chr14:72939680-72939830	MCF-7	breast:	n/a	chr14:72939744-72939753
12	CTCF	chr14:72939540-72939750	HFF	foreskin:	n/a	n/a
13	CTCF	chr14:72939720-72939870	BE2_C	brain:	n/a	chr14:72939744-72939753
14	CTCF	chr14:72939707-72939803	Hela-S3	cervix:	n/a	chr14:72939744-72939753
15	CTCF	chr14:72939640-72939790	GM12878	blood:	n/a	chr14:72939744-72939753
16	CTCF	chr14:72939585-72939842	IMR90	lung:	n/a	chr14:72939744-72939753
17	CTCF	chr14:72939640-72939790	GM12873	blood:	n/a	chr14:72939744-72939753
18	CTCF	chr14:72939680-72939830	GM12873	blood:	n/a	chr14:72939744-72939753
19	CTCF	chr14:72939620-72939770	HRPEpiC	eye:	n/a	chr14:72939744-72939753
20	CTCF	chr14:72939700-72939850	HMF	breast:	n/a	chr14:72939744-72939753
21	CTCF	chr14:72939720-72939870	Hela-S3	cervix:	n/a	chr14:72939744-72939753
22	RAD21	chr14:72939488-72939954	MCF-7	breast:	n/a	chr14:72939743-72939752
23	CTCF	chr14:72939540-72939790	GM12866	blood:	n/a	chr14:72939744-72939753
24	CTCF	chr14:72939600-72939750	AG04450	lung:	n/a	n/a
25	CTCF	chr14:72939700-72939850	K562	blood:	n/a	chr14:72939744-72939753
26	CTCF	chr14:72939610-72939897	K562	blood:	n/a	chr14:72939744-72939753
27	CTCF	chr14:72939680-72939830	HRE	kidney:	n/a	chr14:72939744-72939753
28	CTCF	chr14:72939660-72939810	GM12869	blood:	n/a	chr14:72939744-72939753
29	CTCF	chr14:72939634-72939801	GM12878	blood:	n/a	chr14:72939744-72939753
30	CTCF	chr14:72939640-72939790	HA-sp	spinal cord:	n/a	chr14:72939744-72939753
31	CTCF	chr14:72939680-72939830	HPF	lung:	n/a	chr14:72939744-72939753
32	CTCF	chr14:72939660-72939810	BJ	skin:	n/a	chr14:72939744-72939753
33	CTCF	chr14:72939640-72939790	AG10803	skin:	n/a	chr14:72939744-72939753
34	CTCF	chr14:72939680-72939830	BE2_C	brain:	n/a	chr14:72939744-72939753
35	CTCF	chr14:72939647-72939854	LNCaP	prostate:	n/a	chr14:72939744-72939753
36	CTCF	chr14:72939567-72939832	MCF-7	breast:	n/a	chr14:72939744-72939753
37	CTCF	chr14:72939640-72939790	GM12864	blood:	n/a	chr14:72939744-72939753
38	CTCF	chr14:72939640-72939790	SK-N-SH_RA	brain:	n/a	chr14:72939744-72939753
39	CTCF	chr14:72939700-72939850	AG09309	skin:	n/a	chr14:72939744-72939753
40	CTCF	chr14:72939720-72939870	A549	lung:	n/a	chr14:72939744-72939753
41	CTCF	chr14:72939680-72939830	HCFaa	heart:	n/a	chr14:72939744-72939753
42	CTCF	chr14:72939640-72939790	HEK293	kidney:	n/a	chr14:72939744-72939753
43	CTCF	chr14:72939600-72939750	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr14:72939680-72939830	HBMEC	blood vessel:	n/a	chr14:72939744-72939753
45	CTCF	chr14:72939700-72939850	HCT-116	colon:	n/a	chr14:72939744-72939753
46	CTCF	chr14:72939700-72939850	RPTEC	kidney:	n/a	chr14:72939744-72939753
47	CTCF	chr14:72939700-72939850	HPAF	blood vessel:	n/a	chr14:72939744-72939753
48	SMC3	chr14:72939590-72939780	K562	blood:	n/a	chr14:72939743-72939757 chr14:72939743-72939750
49	CTCF	chr14:72939640-72939790	HAc	cerebellar:	n/a	chr14:72939744-72939753
50	CTCF	chr14:72939692-72939819	LNCaP	prostate:	n/a	chr14:72939744-72939753

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72937315..72940089-chr14:72941556..72943605,3	MCF-7	breast:
2	chr14:72939695..72940254-chr14:72980478..72981117,2	MCF-7	breast:

Variant related genes	Relation type
RGS6	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10139942	0.90[CHB][hapmap]
rs11844202	0.88[JPT][hapmap]
rs12050430	0.89[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs12891926	0.88[JPT][hapmap]
rs1544524	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs1548685	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs17116363	0.80[CEU][hapmap]
rs17780517	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs2190937	0.88[JPT][hapmap]
rs2238177	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs2238179	0.88[JPT][hapmap]
rs2238181	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs2239273	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs2239274	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs2239275	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs2239276	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs2283377	0.89[CEU][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2283381	0.90[CHB][hapmap]
rs3819549	0.84[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs4140998	0.82[CHB][hapmap]
rs7159382	0.88[JPT][hapmap]
rs72726152	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs917426	0.88[JPT][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10131497	ACOT4	cis	cerebellum	SCAN
rs10131497	ACOT6	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72919400-72945200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:72923800-72946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:72930200-72943400	Weak transcription	Left Ventricle	heart
4	chr14:72930400-72943000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:72933800-72942000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:72934400-72943400	Weak transcription	Spleen	Spleen
7	chr14:72935600-72941600	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:72936000-72946200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:72936800-72940200	Weak transcription	Fetal Brain Female	brain
10	chr14:72937600-72943000	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:72938600-72943400	Weak transcription	Lung	lung
12	chr14:72939400-72943000	Weak transcription	Primary T cells from cord blood	blood
13	chr14:72939600-72941400	Weak transcription	Dnd41	blood
14	chr14:72939600-72943000	Weak transcription	Fetal Thymus	thymus

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