Variant report

Variant	rs2757084
Chromosome Location	chr6:80757750-80757751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10943681	0.92[ASN][1000 genomes]
rs10943682	0.95[ASN][1000 genomes]
rs10943688	0.80[ASN][1000 genomes]
rs1205578	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12526265	0.91[ASN][1000 genomes]
rs1410521	0.80[ASN][1000 genomes]
rs1410522	0.80[ASN][1000 genomes]
rs151642	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs151645	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs151657	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs151660	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151665	0.80[EUR][1000 genomes]
rs1897870	0.93[ASN][1000 genomes]
rs2181070	0.95[ASN][1000 genomes]
rs2295838	0.91[ASN][1000 genomes]
rs2295840	0.93[ASN][1000 genomes]
rs2295841	0.95[ASN][1000 genomes]
rs239495	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs239497	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs239500	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs239560	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs239578	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs240214	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs240217	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs240218	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2769337	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3799497	0.92[ASN][1000 genomes]
rs3812151	0.80[ASN][1000 genomes]
rs3828761	0.80[EUR][1000 genomes]
rs465483	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4706826	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs587984	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs652752	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs666040	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6923330	0.84[EUR][1000 genomes]
rs6925415	0.86[ASN][1000 genomes]
rs9294168	0.95[ASN][1000 genomes]
rs9341801	0.93[ASN][1000 genomes]
rs9341802	0.95[ASN][1000 genomes]
rs9341803	0.93[ASN][1000 genomes]
rs9343961	0.93[ASN][1000 genomes]
rs9352790	0.95[ASN][1000 genomes]
rs9352794	0.80[EUR][1000 genomes]
rs9352797	0.80[ASN][1000 genomes]
rs9359406	0.93[ASN][1000 genomes]
rs9448877	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	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	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
3	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
rs2757084	ELOVL4	cis	Artery Tibial	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80715600-80763800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:80721600-80760400	Weak transcription	Fetal Kidney	kidney
3	chr6:80732800-80758800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:80732800-80762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:80734800-80758800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:80740400-80759200	Weak transcription	Fetal Stomach	stomach
7	chr6:80740600-80758800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:80742200-80758600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:80742400-80760200	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:80743200-80758800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:80743200-80759400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:80744600-80758200	Weak transcription	NHEK	skin
13	chr6:80748400-80758400	Weak transcription	HMEC	breast
14	chr6:80748400-80759200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:80751000-80758000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:80751000-80758200	Weak transcription	K562	blood
17	chr6:80751000-80758400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:80751000-80764800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:80751000-80766200	Weak transcription	NHLF	lung
20	chr6:80751200-80758600	Weak transcription	NHDF-Ad	bronchial
21	chr6:80751800-80758600	Weak transcription	Hela-S3	cervix
22	chr6:80752800-80763400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:80753200-80765400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:80753200-80772200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:80753400-80758600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:80753600-80758200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr6:80753600-80758600	Weak transcription	HUVEC	blood vessel
28	chr6:80753600-80758600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr6:80753600-80765400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:80753800-80765800	Weak transcription	HSMM	muscle
31	chr6:80756400-80758000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:80757000-80758200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr6:80757000-80763400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:80757200-80757800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:80757200-80758000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:80757200-80758800	Weak transcription	A549	lung
37	chr6:80757200-80758800	Weak transcription	GM12878-XiMat	blood
38	chr6:80757200-80759200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:80757200-80759400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:80757200-80759600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:80757200-80760400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:80757200-80760800	Weak transcription	Fetal Thymus	thymus
43	chr6:80757200-80763400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:80757200-80763400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:80757400-80763400	Weak transcription	Thymus	Thymus
46	chr6:80757600-80766000	Weak transcription	Dnd41	blood

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