Variant report

Variant	rs7841695
Chromosome Location	chr8:66893679-66893680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1108213	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1108214	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985554	1.00[ASN][1000 genomes]
rs11985589	0.98[ASN][1000 genomes]
rs11987304	0.87[ASN][1000 genomes]
rs11987611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988589	1.00[ASN][1000 genomes]
rs11993927	1.00[ASN][1000 genomes]
rs11994927	1.00[ASN][1000 genomes]
rs11995310	0.83[ASN][1000 genomes]
rs11995784	0.85[ASN][1000 genomes]
rs11996481	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11998621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316700	1.00[CHB][hapmap]
rs16932382	0.87[ASN][1000 genomes]
rs17306183	1.00[JPT][hapmap]
rs2002333	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002334	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357570	1.00[JPT][hapmap]
rs34174890	0.87[ASN][1000 genomes]
rs3901084	0.91[ASN][1000 genomes]
rs4129057	0.91[ASN][1000 genomes]
rs4565445	1.00[JPT][hapmap]
rs4620273	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55695598	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56246853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56747456	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57683289	1.00[ASN][1000 genomes]
rs57690026	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489131	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58881093	0.87[ASN][1000 genomes]
rs62506592	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62506593	0.87[ASN][1000 genomes]
rs62506596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62506636	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62506637	0.83[EUR][1000 genomes]
rs6472228	1.00[CHB][hapmap]
rs6472234	0.82[ASN][1000 genomes]
rs66644630	0.82[ASN][1000 genomes]
rs67768803	0.87[ASN][1000 genomes]
rs6981019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992232	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997506	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011264	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7017127	0.88[AMR][1000 genomes]
rs72650541	0.87[ASN][1000 genomes]
rs7818219	1.00[JPT][hapmap]
rs870077	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1023239	chr8:66775321-66904124	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7841695	MTFR1	cis	multi-tissue	Pritchard
rs7841695	SLC6A8	trans	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66890600-66896800	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:66892000-66896800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:66892200-66893800	ZNF genes & repeats	Primary B cells from cord blood	blood
4	chr8:66892200-66894600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:66892400-66896000	Weak transcription	Right Atrium	heart
6	chr8:66892800-66895400	Enhancers	Fetal Intestine Large	intestine
7	chr8:66893200-66894800	Enhancers	Fetal Thymus	thymus
8	chr8:66893400-66894000	Enhancers	Esophagus	oesophagus
9	chr8:66893400-66894200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr8:66893400-66894400	Flanking Active TSS	GM12878-XiMat	blood
11	chr8:66893400-66895000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:66893400-66895000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:66893400-66895000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:66893400-66895400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr8:66893400-66895600	Enhancers	Fetal Intestine Small	intestine
16	chr8:66893600-66893800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:66893600-66893800	Enhancers	Adipose Nuclei	Adipose
18	chr8:66893600-66893800	Enhancers	Spleen	Spleen
19	chr8:66893600-66894000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:66893600-66894000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:66893600-66894000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr8:66893600-66894000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr8:66893600-66894200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:66893600-66894400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr8:66893600-66894600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr8:66893600-66894600	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:66893600-66894800	Enhancers	Primary T cells from cord blood	blood
28	chr8:66893600-66894800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:66893600-66894800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr8:66893600-66894800	Enhancers	Thymus	Thymus
31	chr8:66893600-66895200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:66893600-66895400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:66893600-66895400	Enhancers	HepG2	liver
34	chr8:66893600-66895600	Enhancers	Primary hematopoietic stem cells	blood

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