Variant report

Variant	rs34618835
Chromosome Location	chr6:37899784-37899785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs13198459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13200310	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13203867	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13207526	0.83[EUR][1000 genomes]
rs13210087	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13210967	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13211881	0.83[EUR][1000 genomes]
rs13219500	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16890301	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2395689	1.00[EUR][1000 genomes]
rs2453882	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2645096	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2645098	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28385568	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2842499	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2842506	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2842511	0.89[EUR][1000 genomes]
rs2842512	0.85[EUR][1000 genomes]
rs2842513	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2842514	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2842516	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs33997846	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34054102	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34123707	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34449592	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34634043	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34754573	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35051126	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35202194	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35248825	0.83[EUR][1000 genomes]
rs35330991	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35379375	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35465740	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35575717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35653300	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35953900	0.87[EUR][1000 genomes]
rs35955196	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs36069529	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4394213	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4711518	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55943813	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs56678832	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6458037	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6908761	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6910837	0.87[EUR][1000 genomes]
rs6912250	0.83[EUR][1000 genomes]
rs6916535	0.91[ASN][1000 genomes]
rs6917736	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6918802	0.87[EUR][1000 genomes]
rs6919884	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6923132	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6923254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6923665	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6925563	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6940491	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs71569395	0.87[EUR][1000 genomes]
rs71569397	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71569399	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs71569402	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7747538	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7760770	0.83[EUR][1000 genomes]
rs7776025	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34618835	ELOVL2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37873400-37929200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:37874600-37903800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:37876600-37903200	Weak transcription	Dnd41	blood
4	chr6:37878800-37900400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:37880200-37930000	Weak transcription	Thymus	Thymus
6	chr6:37884600-37904800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:37884800-37917000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr6:37885200-37906200	Weak transcription	HSMM	muscle
9	chr6:37887600-37933200	Weak transcription	NHDF-Ad	bronchial
10	chr6:37887800-37906200	Weak transcription	HSMMtube	muscle
11	chr6:37887800-37906600	Weak transcription	NH-A	brain
12	chr6:37888600-37903600	Weak transcription	Osteobl	bone
13	chr6:37888800-37903800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:37889000-37906400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:37889200-37903600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:37889800-37903800	Weak transcription	Aorta	Aorta
17	chr6:37890800-37910400	Weak transcription	NHEK	skin
18	chr6:37891000-37900800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:37892400-37902800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:37892400-37903400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:37892400-37904000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:37892400-37904400	Weak transcription	GM12878-XiMat	blood
23	chr6:37892400-37907200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:37892600-37903800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:37892600-37905000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:37892600-37910800	Weak transcription	Primary B cells from cord blood	blood
27	chr6:37892600-37928800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:37892800-37903400	Weak transcription	Primary T cells from cord blood	blood
29	chr6:37892800-37904000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:37892800-37904000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:37892800-37904600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr6:37893200-37910400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:37894600-37903200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:37895200-37906600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:37895800-37903200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:37895800-37908400	Weak transcription	Adipose Nuclei	Adipose
37	chr6:37896200-37900200	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:37896400-37900000	Enhancers	Duodenum Mucosa	Duodenum
39	chr6:37896600-37900800	Enhancers	Fetal Intestine Small	intestine
40	chr6:37896600-37902200	Enhancers	HepG2	liver
41	chr6:37896800-37900800	Weak transcription	Right Ventricle	heart
42	chr6:37896800-37907400	Weak transcription	Left Ventricle	heart
43	chr6:37896800-37929000	Weak transcription	Esophagus	oesophagus
44	chr6:37897000-37900200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:37897000-37901600	Weak transcription	Ovary	ovary
46	chr6:37897000-37907600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:37897200-37904000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:37897200-37908800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:37897200-37909000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:37897200-37909000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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