Variant report

Variant	rs67724994
Chromosome Location	chr8:66651505-66651506
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66646650..66648902-chr8:66649150..66651692,2	K562	blood:
2	chr8:66645308..66647727-chr8:66649629..66652069,2	MCF-7	breast:
3	chr8:66649066..66651698-chr8:66653132..66654772,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10504389	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932294	0.82[EUR][1000 genomes]
rs17304516	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60860867	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61316312	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs66802499	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66831149	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66850618	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66851666	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66987979	1.00[ASN][1000 genomes]
rs67102418	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67514002	0.82[EUR][1000 genomes]
rs67679220	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67686346	1.00[ASN][1000 genomes]
rs68077070	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986048	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002171	0.82[EUR][1000 genomes]
rs7002953	0.82[EUR][1000 genomes]
rs72664797	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72666522	0.82[EUR][1000 genomes]
rs72666526	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240726	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240751	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240774	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7465049	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829562	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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	nsv395893	chr8:66647130-66651736	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67724994	MTFR1	cis	Muscle Skeletal	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66621400-66673000	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:66624600-66661200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:66625600-66661400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:66626200-66652000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:66626200-66664600	Strong transcription	Fetal Thymus	thymus
6	chr8:66626400-66656600	Strong transcription	Primary T cells from cord blood	blood
7	chr8:66626600-66653600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr8:66626600-66655600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr8:66627200-66655000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:66628000-66652000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:66628200-66660000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:66628200-66660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:66628400-66651600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr8:66628400-66652400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:66628400-66652800	Strong transcription	Primary B cells from cord blood	blood
16	chr8:66628400-66663800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:66628400-66666600	Strong transcription	Dnd41	blood
18	chr8:66633800-66653800	Weak transcription	K562	blood
19	chr8:66635200-66674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:66635400-66654400	Weak transcription	Small Intestine	intestine
21	chr8:66635400-66673600	Weak transcription	Brain Substantia Nigra	brain
22	chr8:66635400-66673800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:66635400-66674000	Weak transcription	Fetal Brain Male	brain
24	chr8:66635600-66655000	Weak transcription	HSMMtube	muscle
25	chr8:66638800-66655600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:66639200-66654400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:66640800-66652000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:66641200-66654400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:66641800-66651600	Strong transcription	Fetal Intestine Small	intestine
30	chr8:66641800-66651600	Strong transcription	Fetal Muscle Leg	muscle
31	chr8:66641800-66651800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:66641800-66653000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:66641800-66653400	Strong transcription	Thymus	Thymus
34	chr8:66641800-66655000	Strong transcription	GM12878-XiMat	blood
35	chr8:66641800-66660000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:66642000-66651800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr8:66642000-66651800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr8:66642800-66652000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:66642800-66652000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:66642800-66652000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:66642800-66652000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:66643200-66652600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:66644000-66655000	Weak transcription	HepG2	liver
44	chr8:66644200-66651800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr8:66644600-66651600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:66644600-66651800	Strong transcription	Adipose Nuclei	Adipose
47	chr8:66645600-66686000	Weak transcription	HSMM	muscle
48	chr8:66646200-66652600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:66646400-66652600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:66646600-66651800	Strong transcription	NHEK	skin

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