Variant report

Variant	rs9323285
Chromosome Location	chr14:55863829-55863830
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55863036..55866300-chr14:55870450..55873492,4	K562	blood:
2	chr14:55862301..55864393-chr14:55864806..55866499,2	K562	blood:
3	chr14:55863726..55865438-chr14:55877995..55880631,2	MCF-7	breast:
4	chr14:55851517..55854050-chr14:55862955..55864558,2	K562	blood:
5	chr14:55851395..55854155-chr14:55863478..55865665,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126775	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10129505	0.96[CEU][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs10131562	0.91[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10131730	0.96[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10132453	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10134317	0.96[CEU][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10134339	0.81[JPT][hapmap]
rs10136596	0.81[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs10137307	0.90[JPT][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10139000	0.84[ASN][1000 genomes]
rs10140869	0.95[JPT][hapmap];0.81[YRI][hapmap]
rs10141396	0.96[CEU][hapmap];0.81[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141552	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs10142448	0.81[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10144418	0.80[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.81[YRI][hapmap];0.82[ASN][1000 genomes]
rs10146637	0.96[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs10147765	0.83[ASN][1000 genomes]
rs10150760	0.81[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1045002	0.81[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.82[ASN][1000 genomes]
rs1045004	0.90[JPT][hapmap];0.91[LWK][hapmap];0.81[YRI][hapmap]
rs1109170	0.81[JPT][hapmap]
rs11158034	0.96[CEU][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap]
rs11158037	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11621089	0.91[EUR][1000 genomes]
rs11621265	0.90[JPT][hapmap];0.91[LWK][hapmap]
rs11625001	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs11626751	0.83[ASN][1000 genomes]
rs11628437	0.95[JPT][hapmap]
rs11851169	0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12050123	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1572611	0.81[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.83[ASN][1000 genomes]
rs17128440	0.84[ASN][1000 genomes]
rs17672364	0.92[CEU][hapmap];0.97[TSI][hapmap]
rs17674463	0.81[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs17674563	0.83[ASN][1000 genomes]
rs17675223	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17740741	0.95[JPT][hapmap];0.85[YRI][hapmap]
rs17741542	0.82[CHD][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap]
rs17741831	0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1815581	0.81[ASN][1000 genomes]
rs1972221	0.96[CEU][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2016931	0.84[ASN][1000 genomes]
rs2026633	0.96[CEU][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.82[MKK][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2297816	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2341621	0.81[JPT][hapmap]
rs2341622	0.82[JPT][hapmap]
rs28428911	0.84[ASN][1000 genomes]
rs28430823	0.82[ASN][1000 genomes]
rs28452705	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28493647	0.83[ASN][1000 genomes]
rs28612464	0.82[ASN][1000 genomes]
rs28660594	0.84[ASN][1000 genomes]
rs2880103	1.00[CEU][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs3742569	0.81[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs3783648	0.83[ASN][1000 genomes]
rs3783649	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3783650	0.81[JPT][hapmap]
rs3783651	0.96[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3783652	0.81[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs3825614	0.92[CEU][hapmap]
rs3825616	0.81[JPT][hapmap]
rs4580079	0.96[CEU][hapmap]
rs4597235	0.85[JPT][hapmap]
rs58296156	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6573013	0.86[JPT][hapmap]
rs6573014	0.86[JPT][hapmap]
rs6573017	0.81[JPT][hapmap]
rs6573020	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs66486619	0.80[ASN][1000 genomes]
rs66551709	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67412516	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67795323	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7144737	0.81[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7147136	0.83[ASN][1000 genomes]
rs7147247	0.96[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs7150234	0.94[EUR][1000 genomes]
rs7150763	0.96[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7151581	0.96[CEU][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7151754	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7152390	0.96[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7153110	0.81[JPT][hapmap]
rs7154831	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7154889	0.81[JPT][hapmap]
rs7155954	0.86[CEU][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap]
rs7157308	0.80[EUR][1000 genomes]
rs7158768	0.81[JPT][hapmap]
rs7158791	0.92[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7159144	0.81[JPT][hapmap]
rs7159824	0.96[CEU][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs7161439	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72717738	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8003279	0.87[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs8005450	0.92[CEU][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8006525	0.81[JPT][hapmap]
rs8008119	0.83[ASN][1000 genomes]
rs8013713	0.81[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs8014477	0.86[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8014540	0.96[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8015211	0.87[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8021583	0.95[JPT][hapmap]
rs8023197	0.81[JPT][hapmap]
rs946059	0.81[JPT][hapmap]
rs9919923	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9919926	0.81[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.80[ASN][1000 genomes]
rs9919932	0.91[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
4	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh 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	30 gene(s)	inside rSNPs	diseases
6	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9323285	FBXO34	cis	cerebellum	SCAN
rs9323285	ATG14	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:55821400-55865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:55836800-55877800	Weak transcription	Esophagus	oesophagus
5	chr14:55848600-55876600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:55848800-55864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:55848800-55865000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:55849200-55876600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:55849200-55878000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:55849800-55865200	Weak transcription	A549	lung
11	chr14:55850000-55868400	Weak transcription	Right Ventricle	heart
12	chr14:55850800-55865400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:55850800-55865400	Weak transcription	Aorta	Aorta
14	chr14:55851000-55871000	Weak transcription	Pancreas	Pancrea
15	chr14:55852000-55877200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:55852400-55865400	Weak transcription	Colonic Mucosa	Colon
17	chr14:55852800-55865200	Weak transcription	NHEK	skin
18	chr14:55853000-55865200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:55853000-55877200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:55853600-55865600	Weak transcription	Fetal Kidney	kidney
21	chr14:55854000-55868400	Weak transcription	Gastric	stomach
22	chr14:55854200-55866400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:55854200-55871000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:55854400-55865400	Weak transcription	Brain Substantia Nigra	brain
25	chr14:55854800-55878000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:55855400-55865200	Weak transcription	HMEC	breast
27	chr14:55855800-55865200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:55855800-55865400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:55856000-55865200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:55856000-55865200	Weak transcription	Brain Angular Gyrus	brain
31	chr14:55856200-55865200	Weak transcription	NH-A	brain
32	chr14:55856200-55865600	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:55856200-55865800	Weak transcription	HSMMtube	muscle
34	chr14:55856200-55868600	Weak transcription	Psoas Muscle	Psoas
35	chr14:55856200-55876200	Weak transcription	Fetal Brain Male	brain
36	chr14:55856200-55878000	Weak transcription	Spleen	Spleen
37	chr14:55856400-55865400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:55856400-55870400	Weak transcription	GM12878-XiMat	blood
39	chr14:55856400-55876800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:55856400-55877600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:55856600-55869800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:55856600-55876600	Weak transcription	Fetal Brain Female	brain
43	chr14:55856800-55864800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:55856800-55865000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:55856800-55865000	Weak transcription	NHLF	lung
46	chr14:55856800-55865200	Weak transcription	Osteobl	bone
47	chr14:55856800-55865400	Weak transcription	K562	blood
48	chr14:55856800-55875600	Weak transcription	Dnd41	blood
49	chr14:55856800-55877200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:55857600-55866000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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