Variant report

Variant	rs6777145
Chromosome Location	chr3:47110228-47110229
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47099343..47101567-chr3:47110019..47111796,2	K562	blood:
2	chr3:47108569..47110745-chr3:47111424..47113909,2	MCF-7	breast:
3	chr3:47104888..47106552-chr3:47109440..47111532,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10433549	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1079276	0.83[EUR][1000 genomes]
rs1108301	0.81[EUR][1000 genomes]
rs11130111	0.81[EUR][1000 genomes]
rs11130112	0.81[EUR][1000 genomes]
rs11130114	0.80[EUR][1000 genomes]
rs11130115	0.80[EUR][1000 genomes]
rs11707736	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11708451	0.80[EUR][1000 genomes]
rs11709660	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11712716	0.80[EUR][1000 genomes]
rs11713693	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11714373	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11715121	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11716539	0.80[EUR][1000 genomes]
rs11719738	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11720139	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11917361	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11917474	0.81[EUR][1000 genomes]
rs11920354	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11923706	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12493425	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12629262	0.80[EUR][1000 genomes]
rs12631730	0.87[ASN][1000 genomes]
rs12715421	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13061071	0.83[EUR][1000 genomes]
rs13062022	0.80[EUR][1000 genomes]
rs13062681	0.85[EUR][1000 genomes]
rs13066214	0.82[EUR][1000 genomes]
rs13077398	0.81[EUR][1000 genomes]
rs13084117	0.80[EUR][1000 genomes]
rs13091054	0.89[EUR][1000 genomes]
rs13098228	0.83[EUR][1000 genomes]
rs1466740	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1466741	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17784127	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1811652	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1869869	0.81[EUR][1000 genomes]
rs2088135	0.80[AFR][1000 genomes]
rs2278963	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2305634	0.83[EUR][1000 genomes]
rs2305635	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2305638	0.80[EUR][1000 genomes]
rs2385867	0.84[EUR][1000 genomes]
rs34103310	0.89[EUR][1000 genomes]
rs34344887	0.82[EUR][1000 genomes]
rs4018905	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4078466	0.87[EUR][1000 genomes]
rs4082155	0.88[EUR][1000 genomes]
rs4234465	0.81[EUR][1000 genomes]
rs4682831	0.81[EUR][1000 genomes]
rs4682852	0.80[EUR][1000 genomes]
rs4683322	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55724164	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55843455	0.81[EUR][1000 genomes]
rs55927279	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56217494	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56249396	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56250009	0.80[AFR][1000 genomes]
rs57756484	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58956475	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61729713	0.81[EUR][1000 genomes]
rs62246375	0.81[EUR][1000 genomes]
rs62246398	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62246402	0.83[AFR][1000 genomes]
rs62246451	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62246455	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62248905	0.83[AFR][1000 genomes]
rs6414435	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6414436	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442059	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6442060	0.85[ASN][1000 genomes]
rs66539935	0.81[EUR][1000 genomes]
rs6763236	0.91[EUR][1000 genomes]
rs6766230	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6767218	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6767907	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6768722	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6772670	0.80[EUR][1000 genomes]
rs6773521	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6781941	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6785790	0.81[EUR][1000 genomes]
rs6791062	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6794193	0.90[EUR][1000 genomes]
rs73069104	0.80[AFR][1000 genomes]
rs7373821	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7426969	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7433300	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749511	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs749512	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7610620	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7610636	0.85[EUR][1000 genomes]
rs7620997	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7621911	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7623888	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7625067	0.91[EUR][1000 genomes]
rs7625070	0.91[EUR][1000 genomes]
rs7632501	0.83[AFR][1000 genomes]
rs7633435	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7633698	0.81[EUR][1000 genomes]
rs7636252	0.81[EUR][1000 genomes]
rs7637302	0.84[EUR][1000 genomes]
rs9311403	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9812878	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9818382	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9821119	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9837343	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9843075	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9844122	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9845728	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854790	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9858443	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9875235	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv997261	chr3:47054766-47133680	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6777145	KLHL18	Cis_1M	lymphoblastoid	RTeQTL
rs6777145	SETD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47078000-47130600	Weak transcription	Stomach Mucosa	stomach
2	chr3:47079600-47123800	Weak transcription	Pancreas	Pancrea
3	chr3:47079600-47124200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:47079800-47124200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:47083200-47135200	Weak transcription	Small Intestine	intestine
6	chr3:47083400-47117200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:47083400-47138600	Weak transcription	Psoas Muscle	Psoas
8	chr3:47084400-47116000	Weak transcription	Right Ventricle	heart
9	chr3:47088200-47112800	Weak transcription	NHDF-Ad	bronchial
10	chr3:47089000-47117000	Weak transcription	Fetal Heart	heart
11	chr3:47093400-47122600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr3:47093800-47123400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr3:47094200-47123800	Weak transcription	Esophagus	oesophagus
14	chr3:47094600-47113400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:47095800-47121000	Weak transcription	Fetal Brain Male	brain
16	chr3:47096200-47111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:47098800-47115200	Weak transcription	HSMMtube	muscle
18	chr3:47098800-47118200	Weak transcription	NHLF	lung
19	chr3:47098800-47121800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:47098800-47122000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:47098800-47122000	Weak transcription	Aorta	Aorta
22	chr3:47098800-47149600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:47099000-47112800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:47099000-47115000	Weak transcription	Brain Angular Gyrus	brain
25	chr3:47099000-47118200	Weak transcription	Brain Anterior Caudate	brain
26	chr3:47099000-47121600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:47099000-47121800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr3:47099000-47121800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:47099000-47121800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:47099000-47122000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:47099000-47122000	Weak transcription	Gastric	stomach
32	chr3:47099000-47125200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:47099000-47128200	Weak transcription	Spleen	Spleen
34	chr3:47099200-47119200	Weak transcription	A549	lung
35	chr3:47099200-47122000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:47099800-47112200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:47099800-47112800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr3:47100000-47118000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr3:47100000-47122200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:47101000-47125200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:47101200-47114000	Strong transcription	Fetal Thymus	thymus
42	chr3:47101200-47123800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:47101400-47147800	Strong transcription	Dnd41	blood
44	chr3:47101600-47123800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:47101800-47121800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:47102200-47115800	Weak transcription	Hela-S3	cervix
47	chr3:47103000-47112400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr3:47103800-47122000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr3:47104200-47112000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:47104200-47117400	Weak transcription	HUVEC	blood vessel

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