Variant report

Variant	rs7740636
Chromosome Location	chr6:38011395-38011396
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	chr6:38004599..38007314-chr6:38011024..38013903,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs13195333	0.97[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13210087	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13210967	0.87[AMR][1000 genomes]
rs13212369	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13217630	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890301	0.88[EUR][1000 genomes]
rs16890365	0.89[AFR][1000 genomes];0.86[EUR][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	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2842498	0.82[EUR][1000 genomes]
rs34038972	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34123707	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34406273	0.97[AFR][1000 genomes];1.00[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];0.88[EUR][1000 genomes]
rs35202194	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35379375	0.87[AMR][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];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35815938	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4394213	0.81[AFR][1000 genomes]
rs55943813	0.88[EUR][1000 genomes]
rs6458037	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6908761	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6916057	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6917208	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917736	0.81[AFR][1000 genomes]
rs6921475	0.85[AFR][1000 genomes]
rs6923132	0.81[AFR][1000 genomes]
rs6923254	0.81[AFR][1000 genomes]
rs6923665	0.88[EUR][1000 genomes]
rs6925563	0.81[AFR][1000 genomes]
rs6940491	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71569397	0.81[AFR][1000 genomes]
rs71569399	0.88[EUR][1000 genomes]
rs71569402	0.88[EUR][1000 genomes]
rs71571304	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7757560	0.82[EUR][1000 genomes]
rs7766767	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7776025	0.81[AFR][1000 genomes]
rs9296236	0.91[EUR][1000 genomes];0.85[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	esv2763549	chr6:37985025-38014006	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	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
8	nsv970298	chr6:38003938-38014330	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7740636	ELOVL2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37985000-38030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:37994400-38011400	Weak transcription	Aorta	Aorta
3	chr6:37995800-38013000	Weak transcription	Fetal Thymus	thymus
4	chr6:37995800-38020600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:37996000-38015400	Weak transcription	HSMMtube	muscle
6	chr6:37998600-38029200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:37999800-38017600	Weak transcription	Right Atrium	heart
8	chr6:37999800-38018600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:38001000-38028600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:38002400-38029400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:38002800-38017800	Weak transcription	HSMM	muscle
12	chr6:38002800-38024400	Weak transcription	Fetal Stomach	stomach
13	chr6:38003000-38024800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:38003000-38025000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:38003200-38024400	Weak transcription	Primary T cells from cord blood	blood
16	chr6:38003600-38025400	Weak transcription	NHDF-Ad	bronchial
17	chr6:38003800-38017800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:38004000-38018000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:38004000-38018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:38004200-38013600	Weak transcription	Small Intestine	intestine
21	chr6:38004200-38024600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:38004200-38029200	Weak transcription	Primary B cells from cord blood	blood
23	chr6:38006000-38011400	Weak transcription	Left Ventricle	heart
24	chr6:38006800-38024200	Weak transcription	Thymus	Thymus
25	chr6:38007400-38025400	Weak transcription	NH-A	brain
26	chr6:38007600-38018000	Weak transcription	Osteobl	bone
27	chr6:38008400-38028400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr6:38008800-38013600	Weak transcription	Liver	Liver
29	chr6:38009000-38019400	Weak transcription	A549	lung
30	chr6:38009200-38018800	Weak transcription	Right Ventricle	heart
31	chr6:38010000-38011400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:38010400-38013800	Enhancers	HepG2	liver
33	chr6:38010600-38029000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:38011000-38011400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:38011000-38011800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:38011000-38011800	Enhancers	Psoas Muscle	Psoas
37	chr6:38011200-38011800	Weak transcription	Colon Smooth Muscle	Colon

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