Variant report

Variant	rs6916057
Chromosome Location	chr6:38061597-38061598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38048909..38051360-chr6:38060879..38063645,2	MCF-7	breast:
2	chr6:38060436..38062438-chr6:38064379..38067243,2	K562	blood:
3	chr6:38060938..38062881-chr6:38065743..38068160,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs13195333	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13198459	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs13203867	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs13212369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13217630	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]
rs13219500	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs16890301	0.87[CEU][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs16890365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2395689	0.87[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]
rs2645115	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2645126	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28360531	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][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	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34123707	0.84[EUR][1000 genomes]
rs34406273	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34754573	0.84[EUR][1000 genomes]
rs35202194	0.84[EUR][1000 genomes]
rs35549511	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35559973	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35597126	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35815938	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4394213	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4711518	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs55943813	0.84[EUR][1000 genomes]
rs6458037	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[EUR][1000 genomes]
rs6908761	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs6910837	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6916535	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6917208	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]
rs6919884	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs6921475	0.97[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6923132	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6923254	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs6923665	0.84[EUR][1000 genomes]
rs6925563	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs6940491	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes]
rs71569399	0.84[EUR][1000 genomes]
rs71569402	0.84[EUR][1000 genomes]
rs71571304	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7740636	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7766767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7776025	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs9296236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	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
8	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
rs6916057	ELOVL2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38030800-38085800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:38031600-38061600	Weak transcription	Brain Germinal Matrix	brain
3	chr6:38033000-38063400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:38035000-38084000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:38036400-38075000	Weak transcription	Thymus	Thymus
6	chr6:38045600-38107000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:38045800-38079800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:38046000-38084200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:38046200-38062600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:38046400-38063200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:38046600-38074200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:38047000-38062800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:38047600-38076200	Weak transcription	Fetal Stomach	stomach
14	chr6:38047800-38062400	Weak transcription	HepG2	liver
15	chr6:38048000-38073000	Weak transcription	Small Intestine	intestine
16	chr6:38049200-38062200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:38049200-38062400	Weak transcription	NHLF	lung
18	chr6:38049200-38062600	Weak transcription	HMEC	breast
19	chr6:38049200-38072600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:38049200-38077400	Weak transcription	Fetal Intestine Small	intestine
21	chr6:38049400-38062400	Weak transcription	Osteobl	bone
22	chr6:38049400-38084400	Weak transcription	Hela-S3	cervix
23	chr6:38050600-38062800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:38051200-38066800	Weak transcription	GM12878-XiMat	blood
25	chr6:38051400-38062400	Weak transcription	NHEK	skin
26	chr6:38051400-38074800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:38051400-38076200	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:38051600-38067800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:38051600-38076200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:38051600-38078200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:38052000-38074800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:38052800-38083800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:38052800-38084000	Weak transcription	Dnd41	blood
34	chr6:38053000-38062200	Weak transcription	NH-A	brain
35	chr6:38053000-38062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:38053000-38075800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:38053000-38078200	Weak transcription	Fetal Intestine Large	intestine
38	chr6:38053000-38084000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:38053000-38090400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:38053200-38061600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:38053200-38062200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:38053200-38078200	Weak transcription	Fetal Thymus	thymus
43	chr6:38053200-38078200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:38053200-38080000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr6:38053200-38084000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr6:38054000-38062400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:38054200-38061600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:38054200-38080000	Weak transcription	Psoas Muscle	Psoas
49	chr6:38054400-38062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:38054400-38062200	Weak transcription	HSMM	muscle

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