Variant report

Variant	rs13217630
Chromosome Location	chr6:38022821-38022822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs13195333	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13198459	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13203867	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs13205214	1.00[JPT][hapmap]
rs13207526	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13212369	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13219500	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs16890301	0.82[CEU][hapmap];0.93[YRI][hapmap];0.88[EUR][1000 genomes]
rs16890365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2395689	0.82[CEU][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[JPT][hapmap];0.80[EUR][1000 genomes]
rs2645115	0.82[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	0.94[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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];1.00[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]
rs35559973	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35597126	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35815938	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4394213	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs4711518	1.00[CHB][hapmap]
rs55943813	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6458037	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6908761	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[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];0.86[YRI][hapmap];0.93[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];0.84[YRI][hapmap]
rs6917208	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]
rs6918802	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6919884	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6921475	0.90[AFR][1000 genomes]
rs6923132	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs6923254	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs6923665	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6925563	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6940491	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];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];0.85[ASN][1000 genomes]
rs7740636	0.94[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];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7776025	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
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
rs13217630	ELOVL2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 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	chr6:38002800-38024400	Weak transcription	Fetal Stomach	stomach
6	chr6:38003000-38024800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:38003000-38025000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:38003200-38024400	Weak transcription	Primary T cells from cord blood	blood
9	chr6:38003600-38025400	Weak transcription	NHDF-Ad	bronchial
10	chr6:38004200-38024600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:38004200-38029200	Weak transcription	Primary B cells from cord blood	blood
12	chr6:38006800-38024200	Weak transcription	Thymus	Thymus
13	chr6:38007400-38025400	Weak transcription	NH-A	brain
14	chr6:38008400-38028400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:38010600-38029000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:38011600-38024200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:38011800-38024200	Weak transcription	Psoas Muscle	Psoas
18	chr6:38011800-38029400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:38012400-38029400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:38015400-38029600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:38015600-38029400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:38016200-38029400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr6:38017200-38055000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:38017400-38031000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:38018200-38025800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:38018400-38025600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:38018400-38030000	Weak transcription	Fetal Intestine Small	intestine
28	chr6:38018600-38025600	Weak transcription	Osteobl	bone
29	chr6:38018800-38023000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:38018800-38024400	Weak transcription	Aorta	Aorta
31	chr6:38019000-38031800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr6:38019400-38029400	Weak transcription	Right Ventricle	heart
33	chr6:38019400-38029400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:38019600-38023000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:38019600-38023200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:38019600-38024200	Weak transcription	Fetal Brain Male	brain
37	chr6:38020000-38029400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:38020200-38029200	Weak transcription	A549	lung
39	chr6:38020200-38030000	Weak transcription	Fetal Brain Female	brain
40	chr6:38020400-38024200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:38020400-38046200	Weak transcription	Stomach Mucosa	stomach
42	chr6:38020800-38025400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr6:38020800-38029400	Weak transcription	Spleen	Spleen
44	chr6:38021000-38024200	Weak transcription	HMEC	breast
45	chr6:38021000-38024800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:38021000-38024800	Enhancers	HepG2	liver
47	chr6:38021000-38025400	Weak transcription	NHEK	skin
48	chr6:38021000-38029200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:38021200-38025600	Weak transcription	Small Intestine	intestine
50	chr6:38021400-38023000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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