Variant report

Variant	rs12491743
Chromosome Location	chr3:49097582-49097583
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	chr3:49097095..49098858-chr3:49130024..49131823,2	K562	blood:

Variant related genes	Relation type
ENSG00000198218	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 21 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10780033	0.80[EUR][1000 genomes]
rs1134591	0.86[EUR][1000 genomes]
rs11705737	0.85[EUR][1000 genomes]
rs11920534	0.83[EUR][1000 genomes]
rs11924597	0.83[EUR][1000 genomes]
rs12493289	0.80[EUR][1000 genomes]
rs12637037	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13064784	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13064883	0.84[EUR][1000 genomes]
rs13064911	0.85[EUR][1000 genomes]
rs13072911	0.84[EUR][1000 genomes]
rs13076394	0.85[EUR][1000 genomes]
rs13315711	0.86[EUR][1000 genomes]
rs13316620	0.87[EUR][1000 genomes]
rs28642807	0.81[EUR][1000 genomes]
rs3212	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4072859	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4279134	0.83[AMR][1000 genomes]
rs4364202	0.84[AMR][1000 genomes]
rs4521268	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4974079	0.80[EUR][1000 genomes]
rs4974080	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4974082	0.86[EUR][1000 genomes]
rs4974084	0.80[EUR][1000 genomes]
rs4974085	0.81[EUR][1000 genomes]
rs4974087	0.81[EUR][1000 genomes]
rs4974091	0.84[EUR][1000 genomes]
rs62262517	0.83[AMR][1000 genomes]
rs6414613	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6446196	0.86[EUR][1000 genomes]
rs6446198	0.85[EUR][1000 genomes]
rs6446205	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6768433	0.83[EUR][1000 genomes]
rs6779394	0.83[AMR][1000 genomes]
rs6781790	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6786665	0.85[EUR][1000 genomes]
rs6789285	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6791234	0.85[EUR][1000 genomes]
rs6795025	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7373790	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7430198	0.83[EUR][1000 genomes]
rs7430501	0.80[EUR][1000 genomes]
rs7431710	0.83[EUR][1000 genomes]
rs7431857	0.80[EUR][1000 genomes]
rs7432989	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7612459	0.85[EUR][1000 genomes]
rs7615235	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7615675	0.81[EUR][1000 genomes]
rs7621015	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7626445	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7628719	0.86[EUR][1000 genomes]
rs7636057	0.86[EUR][1000 genomes]
rs7639332	0.82[EUR][1000 genomes]
rs7643368	0.85[EUR][1000 genomes]
rs7647093	0.82[EUR][1000 genomes]
rs8926	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9681717	0.80[EUR][1000 genomes]
rs9754878	0.80[EUR][1000 genomes]
rs9755490	0.80[EUR][1000 genomes]
rs9840050	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9840684	0.80[EUR][1000 genomes]
rs9846123	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9850134	0.85[EUR][1000 genomes]
rs9867373	0.85[EUR][1000 genomes]
rs9879971	0.80[EUR][1000 genomes]
rs9884022	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876764	chr3:49040462-49245645	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	279 gene(s)	inside rSNPs	diseases

mRNA abundance (count:21)

SNP	Gene	Cis/trans	Tissue	Source
rs12491743	WDR6	cis	Muscle Skeletal	GTEx
rs12491743	NICN1	cis	Thyroid	GTEx
rs12491743	WDR6	cis	lung	GTEx
rs12491743	NCKIPSD	cis	Muscle Skeletal	GTEx
rs12491743	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs12491743	CCDC36	cis	Artery Tibial	GTEx
rs12491743	AMT	cis	Muscle Skeletal	GTEx
rs12491743	WDR6	cis	Esophagus Mucosa	GTEx
rs12491743	AMT	cis	Thyroid	GTEx
rs12491743	WDR6	cis	Whole Blood	GTEx
rs12491743	WDR6	cis	Adipose Subcutaneous	GTEx
rs12491743	WDR6	cis	Esophagus Muscularis	GTEx
rs12491743	WDR6	cis	Stomach	GTEx
rs12491743	CCDC36	cis	Esophagus Muscularis	GTEx
rs12491743	NICN1-AS1	cis	Thyroid	GTEx
rs12491743	NCKIPSD	cis	Nerve Tibial	GTEx
rs12491743	PH-4	Cis_1M	lymphoblastoid	RTeQTL
rs12491743	WDR6	cis	Artery Tibial	GTEx
rs12491743	WDR6	cis	Nerve Tibial	GTEx
rs12491743	WDR6	cis	Heart Left Ventricle	GTEx
rs12491743	NCKIPSD	cis	Esophagus Muscularis	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49066800-49130000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:49066800-49130200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:49067200-49116600	Weak transcription	Right Atrium	heart
4	chr3:49067200-49117200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:49067400-49117200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:49067400-49117200	Strong transcription	Fetal Thymus	thymus
7	chr3:49067400-49117400	Strong transcription	Fetal Intestine Small	intestine
8	chr3:49067400-49117400	Strong transcription	Fetal Stomach	stomach
9	chr3:49067400-49117800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:49067400-49118400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:49067600-49117200	Strong transcription	Thymus	Thymus
12	chr3:49067600-49117600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:49067800-49117400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:49070800-49117000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:49073400-49118200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:49077400-49117200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:49084600-49110800	Weak transcription	Fetal Heart	heart
18	chr3:49084600-49117200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:49087800-49115200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:49087800-49117600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:49088000-49115400	Strong transcription	Liver	Liver
22	chr3:49088000-49116800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:49088000-49117200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:49088000-49118400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:49088200-49116800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr3:49088400-49116800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:49088600-49116400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr3:49088600-49116800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:49088600-49116800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:49089000-49105400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:49089200-49100600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr3:49093000-49100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:49093000-49103400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:49094600-49100600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:49094600-49128200	Weak transcription	Fetal Brain Male	brain
36	chr3:49094800-49098000	Weak transcription	Fetal Kidney	kidney
37	chr3:49094800-49113400	Weak transcription	Psoas Muscle	Psoas
38	chr3:49095000-49098800	Weak transcription	K562	blood
39	chr3:49095000-49117000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:49095200-49098000	Weak transcription	HSMM	muscle
41	chr3:49095200-49099600	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:49095200-49100600	Weak transcription	HMEC	breast
43	chr3:49095200-49100800	Weak transcription	HUVEC	blood vessel
44	chr3:49095200-49101400	Weak transcription	Ovary	ovary
45	chr3:49095200-49102400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr3:49095200-49107800	Weak transcription	Small Intestine	intestine
47	chr3:49095200-49109000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:49095200-49117200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:49095400-49098000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:49095400-49098000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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