Variant report

Variant	rs6917208
Chromosome Location	chr6:38024653-38024654
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	chr6:38018120..38021042-chr6:38024484..38026207,2	K562	blood:
2	chr6:38019894..38021573-chr6:38024031..38026573,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs13195333	0.97[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13198459	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs13203867	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13207526	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13210087	0.82[AFR][1000 genomes]
rs13212369	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13217630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219500	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16890301	0.91[ASW][hapmap];0.87[CEU][hapmap];0.86[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.88[EUR][1000 genomes]
rs16890365	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2395689	0.87[CEU][hapmap];1.00[TSI][hapmap]
rs2453882	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2645096	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2645098	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2645104	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs2645115	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2645118	0.80[EUR][1000 genomes]
rs2645121	0.80[EUR][1000 genomes]
rs2645126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs28360531	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2842498	0.82[EUR][1000 genomes]
rs2842499	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2842514	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2842516	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2842524	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34038972	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34123707	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34406273	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34634043	0.81[AFR][1000 genomes]
rs34754573	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35202194	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35465740	0.81[AFR][1000 genomes]
rs35549511	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs35559973	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35575717	0.81[AFR][1000 genomes]
rs35597126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35815938	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4394213	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4711518	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap]
rs55943813	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6458037	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6908761	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6910837	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6916057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6916535	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6917736	0.81[AFR][1000 genomes]
rs6918802	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6919884	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs6921475	0.85[AFR][1000 genomes]
rs6923132	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs6923254	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs6923665	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6925563	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs6940491	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs71569397	0.81[AFR][1000 genomes]
rs71569399	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71569402	0.88[EUR][1000 genomes]
rs71571304	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7740636	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757560	0.82[EUR][1000 genomes]
rs7766767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7776025	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9296236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[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
rs6917208	ELOVL2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37985000-38030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:37998600-38029200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:38001000-38028600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:38002400-38029400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:38003000-38024800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:38003000-38025000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr6:38003600-38025400	Weak transcription	NHDF-Ad	bronchial
8	chr6:38004200-38029200	Weak transcription	Primary B cells from cord blood	blood
9	chr6:38007400-38025400	Weak transcription	NH-A	brain
10	chr6:38008400-38028400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr6:38010600-38029000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:38011800-38029400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:38012400-38029400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:38015400-38029600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:38015600-38029400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:38016200-38029400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:38017200-38055000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:38017400-38031000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:38018200-38025800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:38018400-38025600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:38018400-38030000	Weak transcription	Fetal Intestine Small	intestine
22	chr6:38018600-38025600	Weak transcription	Osteobl	bone
23	chr6:38019000-38031800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:38019400-38029400	Weak transcription	Right Ventricle	heart
25	chr6:38019400-38029400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:38020000-38029400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:38020200-38029200	Weak transcription	A549	lung
28	chr6:38020200-38030000	Weak transcription	Fetal Brain Female	brain
29	chr6:38020400-38046200	Weak transcription	Stomach Mucosa	stomach
30	chr6:38020800-38025400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:38020800-38029400	Weak transcription	Spleen	Spleen
32	chr6:38021000-38024800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:38021000-38024800	Enhancers	HepG2	liver
34	chr6:38021000-38025400	Weak transcription	NHEK	skin
35	chr6:38021000-38029200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:38021200-38025600	Weak transcription	Small Intestine	intestine
37	chr6:38021400-38029400	Weak transcription	Esophagus	oesophagus
38	chr6:38021400-38029400	Weak transcription	Left Ventricle	heart
39	chr6:38021400-38029400	Weak transcription	Lung	lung
40	chr6:38022400-38024800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:38022400-38025200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:38022600-38030000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:38023000-38054800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:38023200-38024800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:38023200-38029200	Weak transcription	K562	blood
46	chr6:38023200-38029400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:38023200-38029400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:38023200-38029800	Weak transcription	Brain Anterior Caudate	brain
49	chr6:38023200-38052800	Weak transcription	Gastric	stomach
50	chr6:38023400-38025200	Weak transcription	GM12878-XiMat	blood

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