Variant report

Variant	rs666040
Chromosome Location	chr6:80752463-80752464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80712691..80715749-chr6:80750056..80753128,3	K562	blood:

Variant related genes	Relation type
ENSG00000112742	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10943681	0.96[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10943682	0.96[ASN][1000 genomes]
rs10943688	0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs1205577	0.82[EUR][1000 genomes]
rs1205578	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1205579	0.83[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs12193074	0.81[EUR][1000 genomes]
rs12526265	0.93[ASN][1000 genomes]
rs1410521	0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs1410522	0.96[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs151642	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs151645	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs151657	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs151658	0.86[CEU][hapmap];0.89[JPT][hapmap]
rs151660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151661	0.82[EUR][1000 genomes]
rs151662	0.82[EUR][1000 genomes]
rs151663	0.86[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs151664	0.86[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs151665	0.83[EUR][1000 genomes]
rs1897870	0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1927425	0.91[CHB][hapmap]
rs1927426	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs2181070	0.96[ASN][1000 genomes]
rs2251783	0.82[EUR][1000 genomes]
rs2251790	0.82[EUR][1000 genomes]
rs2295838	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2295840	0.95[ASN][1000 genomes]
rs2295841	0.96[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs239495	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs239496	0.81[EUR][1000 genomes]
rs239497	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs239500	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239552	0.85[CEU][hapmap];0.89[JPT][hapmap]
rs239554	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs239555	0.86[CEU][hapmap];0.89[JPT][hapmap]
rs239558	0.86[CEU][hapmap];0.89[JPT][hapmap]
rs239560	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs239572	0.86[CEU][hapmap];0.89[JPT][hapmap]
rs239573	0.81[EUR][1000 genomes]
rs239577	0.81[EUR][1000 genomes]
rs239578	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs239579	0.81[EUR][1000 genomes]
rs239580	0.81[EUR][1000 genomes]
rs239581	0.80[EUR][1000 genomes]
rs239582	0.85[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs239583	0.94[JPT][hapmap]
rs239584	0.82[EUR][1000 genomes]
rs239586	0.82[EUR][1000 genomes]
rs239587	0.85[CEU][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs239588	0.82[EUR][1000 genomes]
rs239589	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs240212	0.86[CEU][hapmap];0.89[JPT][hapmap]
rs240213	0.89[CEU][hapmap];0.93[JPT][hapmap]
rs240214	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs240216	0.86[CEU][hapmap];0.89[JPT][hapmap]
rs240217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs240218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs240228	0.86[CEU][hapmap];0.89[JPT][hapmap]
rs240229	0.86[CEU][hapmap];0.89[JPT][hapmap]
rs2757084	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2769337	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3799497	0.96[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs3812151	0.82[ASN][1000 genomes]
rs3828761	0.83[EUR][1000 genomes]
rs465483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4706108	0.81[ASN][1000 genomes]
rs4706826	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4706827	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs587984	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61794	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs61795	0.86[CEU][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs61796	0.86[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs621506	0.82[EUR][1000 genomes]
rs642745	0.82[EUR][1000 genomes]
rs648845	0.80[EUR][1000 genomes]
rs652752	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653665	0.86[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs667871	0.82[EUR][1000 genomes]
rs669278	0.82[EUR][1000 genomes]
rs672372	0.82[EUR][1000 genomes]
rs681405	0.82[EUR][1000 genomes]
rs681435	0.82[EUR][1000 genomes]
rs681931	0.82[EUR][1000 genomes]
rs683167	0.82[EUR][1000 genomes]
rs6917725	0.81[EUR][1000 genomes]
rs6923330	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs6924930	0.81[EUR][1000 genomes]
rs6925415	0.87[ASN][1000 genomes]
rs6934606	0.81[EUR][1000 genomes]
rs6935728	0.81[EUR][1000 genomes]
rs9294168	0.96[ASN][1000 genomes]
rs9341801	0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs9341802	0.96[ASN][1000 genomes]
rs9341803	0.95[ASN][1000 genomes]
rs9343959	0.81[EUR][1000 genomes]
rs9343960	0.80[EUR][1000 genomes]
rs9343961	0.95[ASN][1000 genomes]
rs9343965	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs9352790	0.96[ASN][1000 genomes]
rs9352791	0.81[EUR][1000 genomes]
rs9352793	0.81[EUR][1000 genomes]
rs9352794	0.80[EUR][1000 genomes]
rs9352797	0.82[ASN][1000 genomes]
rs9359406	0.95[ASN][1000 genomes]
rs9359407	0.81[EUR][1000 genomes]
rs9361581	0.81[EUR][1000 genomes]
rs9448876	0.82[EUR][1000 genomes]
rs9448877	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9448881	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886306	chr6:80724666-80754346	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv886307	chr6:80724666-80765111	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv886308	chr6:80734870-80765111	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs666040	ELOVL4	cis	Artery Tibial	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80715400-80755000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:80715400-80756800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:80715600-80754400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:80715600-80763800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:80715800-80753600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:80715800-80753800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:80715800-80754400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:80716200-80754600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:80716800-80753600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr6:80721600-80760400	Weak transcription	Fetal Kidney	kidney
11	chr6:80722200-80755400	Strong transcription	Dnd41	blood
12	chr6:80727200-80755200	Weak transcription	Fetal Brain Female	brain
13	chr6:80730200-80752600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:80730400-80753600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:80730400-80753600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:80730600-80753600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:80732800-80758800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:80732800-80762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:80734800-80758800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:80738000-80757600	Weak transcription	Esophagus	oesophagus
21	chr6:80738800-80753400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:80740200-80753600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr6:80740400-80759200	Weak transcription	Fetal Stomach	stomach
24	chr6:80740600-80758800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:80741600-80756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:80742200-80758600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:80742400-80755200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:80742400-80760200	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:80743200-80758800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:80743200-80759400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:80744600-80758200	Weak transcription	NHEK	skin
32	chr6:80745800-80754600	Weak transcription	Fetal Intestine Large	intestine
33	chr6:80746600-80753000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:80747000-80755000	Weak transcription	Fetal Lung	lung
35	chr6:80748200-80756400	Weak transcription	Thymus	Thymus
36	chr6:80748200-80756600	Weak transcription	A549	lung
37	chr6:80748400-80758400	Weak transcription	HMEC	breast
38	chr6:80748400-80759200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:80749200-80753600	Strong transcription	HUVEC	blood vessel
40	chr6:80749800-80753200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:80749800-80757200	Strong transcription	Fetal Thymus	thymus
42	chr6:80750000-80753400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr6:80750200-80752800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr6:80750200-80753800	Strong transcription	HSMM	muscle
45	chr6:80750400-80753200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:80750400-80754400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:80750800-80755200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:80751000-80753000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:80751000-80753400	Weak transcription	Osteobl	bone
50	chr6:80751000-80754600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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