Variant report

Variant	rs28360531
Chromosome Location	chr6:38103897-38103898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38100724..38102383-chr6:38103789..38105577,2	MCF-7	breast:
2	chr6:38100684..38103465-chr6:38103538..38107352,3	K562	blood:
3	chr6:38100780..38103465-chr6:38103538..38106018,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13195333	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13212369	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13217630	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16890365	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34038972	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34123707	0.82[AFR][1000 genomes]
rs34406273	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34754573	0.82[AFR][1000 genomes]
rs35202194	0.81[AFR][1000 genomes]
rs35549511	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35559973	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35597126	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs35815938	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6458037	0.81[AFR][1000 genomes]
rs6908761	0.81[AFR][1000 genomes]
rs6916057	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6917208	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6921475	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940491	0.81[AFR][1000 genomes]
rs71571304	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7740636	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7766767	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9296236	0.84[EUR][1000 genomes];0.90[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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28360531	ELOVL2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38045600-38107000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:38057200-38109200	Weak transcription	K562	blood
3	chr6:38060000-38108200	Weak transcription	Ovary	ovary
4	chr6:38072200-38108400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:38075200-38118200	Weak transcription	Colonic Mucosa	Colon
6	chr6:38076600-38104000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:38078800-38109000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:38078800-38111000	Weak transcription	Fetal Kidney	kidney
9	chr6:38078800-38111000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:38079600-38113800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:38080400-38104800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:38081800-38121800	Weak transcription	Psoas Muscle	Psoas
13	chr6:38084000-38122200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:38084600-38124200	Weak transcription	Hela-S3	cervix
15	chr6:38087600-38104800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:38087600-38118800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr6:38087800-38104600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:38088000-38104800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:38089600-38106200	Weak transcription	Placenta	Placenta
20	chr6:38090000-38111000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:38090400-38106200	Weak transcription	NHEK	skin
22	chr6:38091200-38106200	Weak transcription	Dnd41	blood
23	chr6:38091200-38119800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:38091400-38109400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr6:38091400-38110200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:38091400-38110400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:38091400-38116000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:38091400-38141800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:38091800-38107200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:38091800-38109600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:38092600-38104000	Weak transcription	Thymus	Thymus
32	chr6:38092600-38109000	Weak transcription	Lung	lung
33	chr6:38092800-38112200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:38092800-38117000	Weak transcription	Spleen	Spleen
35	chr6:38093000-38104200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:38093200-38105000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:38094400-38105000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:38095200-38108000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:38095200-38122600	Weak transcription	A549	lung
40	chr6:38095800-38104200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:38095800-38109000	Weak transcription	Liver	Liver
42	chr6:38096000-38116000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:38098400-38105000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:38099000-38104400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:38099600-38117800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:38099800-38111000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr6:38099800-38119600	Weak transcription	Aorta	Aorta
48	chr6:38100000-38105400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr6:38100000-38112800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:38100200-38104200	Strong transcription	Primary monocytes fromperipheralblood	blood

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