Variant report

Variant	rs7148679
Chromosome Location	chr14:72160321-72160322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72152429..72155391-chr14:72157958..72160807,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10132111	0.82[AFR][1000 genomes]
rs10133626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10135680	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10138557	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10139519	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1029570	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10483836	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10873246	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1204995	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs1204996	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1204997	0.82[AFR][1000 genomes]
rs12433040	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12880188	0.95[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs12880611	0.86[AFR][1000 genomes]
rs12885344	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12889866	0.86[AFR][1000 genomes]
rs12892512	0.82[EUR][1000 genomes]
rs12896900	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12896986	0.86[AFR][1000 genomes]
rs17767680	0.86[AFR][1000 genomes]
rs1859643	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1981588	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2108057	0.91[CEU][hapmap]
rs2190240	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2214836	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2286135	0.82[ASN][1000 genomes]
rs2286136	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2332638	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2332640	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2332641	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34169215	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34320622	0.86[AFR][1000 genomes]
rs34347034	0.86[AFR][1000 genomes]
rs34480562	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35231795	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35415083	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35680546	0.86[AFR][1000 genomes]
rs35760654	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs36072220	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3784062	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3784064	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3784066	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3825719	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4140797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140799	0.82[ASN][1000 genomes]
rs4319698	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4899398	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902938	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4902941	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4902942	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55883127	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61989373	0.86[AFR][1000 genomes]
rs61989374	0.86[AFR][1000 genomes]
rs61989377	0.86[AFR][1000 genomes]
rs6574015	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6574016	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7140501	0.96[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7142343	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7144299	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7144829	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7154787	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7154841	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7156313	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8003478	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8006300	0.91[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap]
rs8008605	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8014349	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8017775	0.82[EUR][1000 genomes]
rs9323561	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9672060	0.95[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7148679	COQ6	cis	parietal	SCAN
rs7148679	SIPA1L1	cis	cerebellum	SCAN
rs7148679	PCNX	cis	cerebellum	SCAN
rs7148679	PCNX	cis	parietal	SCAN
rs7148679	SMOC1	cis	cerebellum	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72118600-72191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr14:72128000-72167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:72129400-72196800	Weak transcription	Right Ventricle	heart
4	chr14:72140000-72165800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:72140600-72176000	Weak transcription	Hela-S3	cervix
6	chr14:72142000-72191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr14:72147800-72185000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr14:72148000-72161600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:72148200-72170000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:72148200-72175800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:72148200-72200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:72148600-72165000	Weak transcription	Fetal Brain Male	brain
13	chr14:72149000-72177800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:72149000-72186200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr14:72149400-72161400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:72149800-72176000	Weak transcription	Small Intestine	intestine
17	chr14:72150400-72162600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr14:72151400-72169600	Weak transcription	Fetal Brain Female	brain
19	chr14:72151600-72171800	Weak transcription	Left Ventricle	heart
20	chr14:72151600-72188000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:72151800-72171600	Weak transcription	Colonic Mucosa	Colon
22	chr14:72152200-72165600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:72152400-72168800	Weak transcription	Esophagus	oesophagus
24	chr14:72152400-72171600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:72152600-72161400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:72152800-72165600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:72153000-72162200	Weak transcription	HMEC	breast
28	chr14:72153000-72165800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:72153000-72175800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:72153200-72175800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:72153600-72168800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:72153800-72160800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:72153800-72165800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:72154400-72168400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:72154400-72169400	Weak transcription	Fetal Heart	heart
36	chr14:72154600-72162200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr14:72155200-72164800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr14:72155600-72167000	Weak transcription	Placenta	Placenta
39	chr14:72156000-72160400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:72156600-72161600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr14:72156800-72176000	Weak transcription	HepG2	liver
42	chr14:72157000-72166600	Strong transcription	Primary B cells from cord blood	blood
43	chr14:72157000-72175800	Weak transcription	Fetal Intestine Large	intestine
44	chr14:72157600-72160400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:72158000-72165000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:72158000-72165200	Weak transcription	Fetal Kidney	kidney
47	chr14:72158000-72165600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr14:72158200-72160600	Weak transcription	GM12878-XiMat	blood
49	chr14:72158200-72160800	Weak transcription	Liver	Liver
50	chr14:72158200-72162400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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