Variant report

Variant	rs34038972
Chromosome Location	chr6:38031802-38031803
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	chr6:38006995..38008635-chr6:38029863..38032307,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13195333	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13212369	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13217630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16890301	0.88[EUR][1000 genomes]
rs16890365	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2645104	0.80[EUR][1000 genomes]
rs2645115	0.82[EUR][1000 genomes]
rs2645118	0.80[EUR][1000 genomes]
rs2645121	0.80[EUR][1000 genomes]
rs2645126	0.80[EUR][1000 genomes]
rs28360531	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2842498	0.82[EUR][1000 genomes]
rs34123707	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34406273	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34754573	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35202194	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35549511	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35559973	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35597126	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35815938	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55943813	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6458037	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6908761	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6916057	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6917208	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6921475	0.90[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6923665	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6940491	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs71569399	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71569402	0.88[EUR][1000 genomes]
rs71571304	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7740636	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7757560	0.82[EUR][1000 genomes]
rs7766767	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9296236	0.91[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	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
3	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
4	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
5	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
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34038972	ELOVL2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38017200-38055000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:38020400-38046200	Weak transcription	Stomach Mucosa	stomach
3	chr6:38023000-38054800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:38023200-38052800	Weak transcription	Gastric	stomach
5	chr6:38024400-38033200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:38024400-38040000	Weak transcription	Fetal Heart	heart
7	chr6:38024600-38033800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:38024600-38035200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:38024600-38041800	Weak transcription	Fetal Brain Male	brain
10	chr6:38024600-38045000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:38026000-38035200	Weak transcription	Brain Substantia Nigra	brain
12	chr6:38026000-38047600	Weak transcription	Hela-S3	cervix
13	chr6:38026200-38053800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:38028200-38032200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:38028200-38034200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr6:38028400-38036800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr6:38028600-38032200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:38029000-38032200	Strong transcription	Primary hematopoietic stem cells	blood
19	chr6:38029000-38032400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:38029000-38033400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:38029000-38033600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr6:38029200-38032200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:38029200-38032400	Strong transcription	Primary B cells from cord blood	blood
24	chr6:38029200-38032400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:38029200-38032400	Strong transcription	A549	lung
26	chr6:38029200-38032800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:38029200-38033200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:38029200-38033200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:38029200-38033600	Strong transcription	Placenta	Placenta
30	chr6:38029200-38034000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:38029400-38032000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:38029400-38032000	Strong transcription	HSMMtube	muscle
33	chr6:38029400-38032200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:38029400-38032200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:38029400-38032200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr6:38029400-38032200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:38029400-38032200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:38029400-38032200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:38029400-38032200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:38029400-38032200	Strong transcription	Adipose Nuclei	Adipose
41	chr6:38029400-38032200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:38029400-38032200	Strong transcription	Fetal Kidney	kidney
43	chr6:38029400-38032200	Strong transcription	Fetal Thymus	thymus
44	chr6:38029400-38032200	Strong transcription	Left Ventricle	heart
45	chr6:38029400-38032200	Strong transcription	HSMM	muscle
46	chr6:38029400-38032200	Strong transcription	NHLF	lung
47	chr6:38029400-38032400	Strong transcription	Liver	Liver
48	chr6:38029400-38032400	Strong transcription	NHDF-Ad	bronchial
49	chr6:38029400-38032600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:38029400-38032800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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