Variant report

Variant	rs1811652
Chromosome Location	chr3:47208698-47208699
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47206205..47208829-chr3:47228493..47230499,2	K562	blood:
2	chr3:47206313..47209230-chr3:47234534..47237007,2	K562	blood:
3	chr3:47144386..47146568-chr3:47206115..47208943,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10433549	0.84[ASN][1000 genomes]
rs11130114	0.91[EUR][1000 genomes]
rs11130115	0.91[EUR][1000 genomes]
rs11707736	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11708451	0.91[EUR][1000 genomes]
rs11709660	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11712716	0.91[EUR][1000 genomes]
rs11713693	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11714282	0.82[EUR][1000 genomes]
rs11714373	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715121	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11716539	0.91[EUR][1000 genomes]
rs11718795	0.90[EUR][1000 genomes]
rs11719306	0.91[EUR][1000 genomes]
rs11719738	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11720139	0.85[ASN][1000 genomes]
rs11917361	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11920354	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11923706	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11925560	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12488225	0.87[EUR][1000 genomes]
rs12489211	0.88[EUR][1000 genomes]
rs12493425	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12629262	0.91[EUR][1000 genomes]
rs12635619	0.88[EUR][1000 genomes]
rs12715421	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13061071	0.87[EUR][1000 genomes]
rs13062022	0.91[EUR][1000 genomes]
rs13078131	0.82[EUR][1000 genomes]
rs13084117	0.91[EUR][1000 genomes]
rs13094672	0.88[EUR][1000 genomes]
rs13098228	0.87[EUR][1000 genomes]
rs1466740	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1466741	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17784127	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2088135	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2132173	0.84[EUR][1000 genomes]
rs2278963	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2305635	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4018905	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4078466	0.81[EUR][1000 genomes]
rs4082155	0.81[EUR][1000 genomes]
rs4682852	0.91[EUR][1000 genomes]
rs4683320	0.91[EUR][1000 genomes]
rs4683322	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4683324	0.83[EUR][1000 genomes]
rs55724164	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55927279	0.88[ASN][1000 genomes]
rs56217494	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs56249396	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56250009	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57756484	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58956475	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59299766	0.88[ASN][1000 genomes]
rs60965459	0.85[ASN][1000 genomes]
rs62246398	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62246451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62246455	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62248905	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6414435	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6414436	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6442055	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6442059	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6442060	0.82[ASN][1000 genomes]
rs6766230	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6767218	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6767907	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6768722	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6772670	0.91[EUR][1000 genomes]
rs6773521	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6777145	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6781941	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6785790	0.88[EUR][1000 genomes]
rs6791062	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6794193	0.80[EUR][1000 genomes]
rs73069104	0.85[ASN][1000 genomes]
rs7433300	0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs749511	0.85[ASN][1000 genomes]
rs749512	0.85[ASN][1000 genomes]
rs7610620	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7615323	0.87[EUR][1000 genomes]
rs7620997	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621911	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7623888	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7632501	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7633435	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9311403	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9812878	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9818382	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9821119	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9837343	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9843075	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9844122	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9845728	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9854790	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9858443	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9875235	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv590210	chr3:47126543-47214122	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv590211	chr3:47189485-47256057	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv3801	chr3:47201530-47246438	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1811652	SETD2	Cis_1M	lymphoblastoid	RTeQTL
rs1811652	KLHL18	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47206800-47228000	Weak transcription	Spleen	Spleen
2	chr3:47207000-47222400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:47207000-47224400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:47207000-47253800	Weak transcription	Aorta	Aorta
5	chr3:47207200-47215600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:47207200-47219400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:47207200-47220000	Weak transcription	Thymus	Thymus
8	chr3:47207200-47222200	Weak transcription	Fetal Intestine Large	intestine
9	chr3:47207200-47225800	Weak transcription	Placenta	Placenta
10	chr3:47207200-47235800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:47207400-47220800	Weak transcription	HSMMtube	muscle
12	chr3:47207400-47224400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:47207600-47215600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:47207600-47216800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:47207800-47210200	Weak transcription	HSMM	muscle
16	chr3:47207800-47215200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:47207800-47216200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:47207800-47217000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:47207800-47217000	Weak transcription	Right Ventricle	heart
20	chr3:47207800-47217400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:47207800-47221800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:47207800-47222000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:47207800-47222400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:47207800-47222600	Weak transcription	Small Intestine	intestine
25	chr3:47207800-47223600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:47207800-47224200	Weak transcription	NH-A	brain
27	chr3:47207800-47224800	Weak transcription	Adipose Nuclei	Adipose
28	chr3:47207800-47228000	Weak transcription	HMEC	breast
29	chr3:47208000-47211200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:47208000-47211800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:47208000-47213400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:47208000-47214400	Weak transcription	HUVEC	blood vessel
33	chr3:47208000-47215200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:47208000-47215400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:47208000-47215400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr3:47208000-47215600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:47208000-47216200	Weak transcription	Primary B cells from cord blood	blood
38	chr3:47208000-47217200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr3:47208000-47217200	Weak transcription	Left Ventricle	heart
40	chr3:47208000-47217200	Weak transcription	NHDF-Ad	bronchial
41	chr3:47208000-47219400	Weak transcription	Pancreas	Pancrea
42	chr3:47208000-47220400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:47208000-47220800	Weak transcription	Fetal Muscle Leg	muscle
44	chr3:47208000-47221000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:47208000-47221600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:47208000-47222000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:47208000-47222000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr3:47208000-47222000	Weak transcription	NHEK	skin
49	chr3:47208000-47222000	Weak transcription	Osteobl	bone
50	chr3:47208000-47222400	Weak transcription	Muscle Satellite Cultured Cells	--

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