Variant report

Variant	rs953593
Chromosome Location	chr8:66631972-66631973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:66628232-66632311	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:66630735..66632714-chr8:66718636..66720891,2	K562	blood:
2	chr8:66631641..66633524-chr8:66633808..66636306,2	K562	blood:

Variant related genes	Relation type
ENSG00000272155	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10087361	0.87[CHB][hapmap]
rs10088623	0.81[GIH][hapmap]
rs10092109	0.90[CHB][hapmap]
rs10102473	0.81[ASN][1000 genomes]
rs1022252	0.82[ASN][1000 genomes]
rs1053085	0.87[CHB][hapmap]
rs1053087	0.87[CHB][hapmap]
rs1053088	0.83[CHB][hapmap]
rs11775485	0.85[ASN][1000 genomes]
rs11985628	0.87[CHB][hapmap]
rs11990855	0.87[CHB][hapmap]
rs11991758	0.81[GIH][hapmap]
rs12677891	0.81[GIH][hapmap]
rs12678467	0.91[CHB][hapmap]
rs13266834	0.87[CHB][hapmap]
rs13268343	0.91[CHB][hapmap]
rs13275168	0.80[YRI][hapmap]
rs13275737	0.81[ASN][1000 genomes]
rs14213	0.87[CHB][hapmap]
rs1473600	0.80[ASN][1000 genomes]
rs1473601	0.87[CHB][hapmap]
rs1533285	0.87[CHB][hapmap]
rs2048648	0.85[ASN][1000 genomes]
rs2048650	0.87[CHB][hapmap]
rs28576524	0.91[CHB][hapmap]
rs3765205	0.87[CHB][hapmap]
rs3812412	0.87[CHB][hapmap]
rs4275254	0.87[CHB][hapmap]
rs4737222	0.87[CHB][hapmap]
rs4737747	0.87[CHB][hapmap]
rs4737748	0.87[CHB][hapmap]
rs4737750	0.87[CHB][hapmap]
rs6983230	0.80[ASN][1000 genomes]
rs6985932	0.87[CHB][hapmap]
rs6997959	0.87[CHB][hapmap]
rs7006732	0.80[ASN][1000 genomes]
rs7011464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7012578	0.87[CHB][hapmap]
rs7016472	0.87[CHB][hapmap]
rs7814841	0.87[CHB][hapmap]
rs7823840	0.87[CHB][hapmap]
rs7833031	0.91[CEU][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7835313	0.87[CHB][hapmap]
rs7836349	0.87[CHB][hapmap]
rs869151	0.83[YRI][hapmap]
rs9298104	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv395879	chr8:66631732-66635776	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs953593	MTFR1	Cis_1M	lymphoblastoid	RTeQTL
rs953593	MTFR1	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66599200-66633000	Weak transcription	Fetal Kidney	kidney
2	chr8:66602800-66641800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:66602800-66650600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:66606600-66639400	Weak transcription	Fetal Heart	heart
5	chr8:66611600-66634600	Weak transcription	Fetal Brain Male	brain
6	chr8:66613400-66634600	Weak transcription	Colonic Mucosa	Colon
7	chr8:66617600-66646200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:66620200-66632000	Weak transcription	Brain Anterior Caudate	brain
9	chr8:66620200-66632800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:66620800-66632600	Weak transcription	Lung	lung
11	chr8:66620800-66633000	Weak transcription	Brain Angular Gyrus	brain
12	chr8:66620800-66648800	Weak transcription	Psoas Muscle	Psoas
13	chr8:66621000-66632600	Weak transcription	Brain Substantia Nigra	brain
14	chr8:66621000-66634800	Weak transcription	Ovary	ovary
15	chr8:66621400-66673000	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:66624600-66661200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:66625600-66661400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:66626200-66633800	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:66626200-66652000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:66626200-66664600	Strong transcription	Fetal Thymus	thymus
21	chr8:66626400-66656600	Strong transcription	Primary T cells from cord blood	blood
22	chr8:66626600-66640400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:66626600-66653600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr8:66626600-66655600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr8:66627200-66640400	Strong transcription	Left Ventricle	heart
26	chr8:66627200-66655000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:66627400-66637600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:66627400-66640400	Strong transcription	Thymus	Thymus
29	chr8:66628000-66652000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:66628200-66636400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:66628200-66640800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr8:66628200-66660000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:66628200-66660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:66628400-66632200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:66628400-66635400	Strong transcription	Adipose Nuclei	Adipose
36	chr8:66628400-66635400	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:66628400-66635600	Strong transcription	Brain Germinal Matrix	brain
38	chr8:66628400-66636600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:66628400-66636600	Strong transcription	Fetal Brain Female	brain
40	chr8:66628400-66637200	Strong transcription	GM12878-XiMat	blood
41	chr8:66628400-66637800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:66628400-66638000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:66628400-66638000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:66628400-66638000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:66628400-66640000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
46	chr8:66628400-66650200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr8:66628400-66651600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr8:66628400-66652400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:66628400-66652800	Strong transcription	Primary B cells from cord blood	blood
50	chr8:66628400-66663800	Strong transcription	Monocytes-CD14+_RO01746	blood

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