Variant report

Variant	rs6991669
Chromosome Location	chr8:66596320-66596321
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	chr8:66555854..66558343-chr8:66595745..66597876,2	K562	blood:

Variant related genes	Relation type
ENSG00000066855	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1022253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1022254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932286	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap];1.00[ASN][1000 genomes]
rs16932294	0.82[JPT][hapmap];0.83[YRI][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17303905	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17394860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17394924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2175810	0.81[LWK][hapmap]
rs2357478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35524385	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41343545	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4497004	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56698878	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57220512	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs57962817	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58398396	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58594670	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60824178	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66773449	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66817670	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66820398	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66824691	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66901832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66908793	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67125822	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67202221	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67362541	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67433957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67445866	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67514002	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67578481	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67669255	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67686346	0.87[EUR][1000 genomes]
rs67692803	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67827113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68075342	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68087267	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68167505	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002171	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7002494	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7002953	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72666512	1.00[ASN][1000 genomes]
rs72666522	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72666525	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239047	1.00[ASN][1000 genomes]
rs73239052	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240732	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7463538	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825615	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842162	0.81[LWK][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6991669	MTFR1	Cis_1M	lymphoblastoid	RTeQTL
rs6991669	MTFR1	cis	cerebellum	SCAN
rs6991669	MTFR1	cis	parietal	SCAN
rs6991669	ARMC1	cis	parietal	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66558400-66606800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:66567200-66616800	Weak transcription	Gastric	stomach
3	chr8:66571400-66605800	Weak transcription	Primary T cells from cord blood	blood
4	chr8:66571400-66606600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:66571800-66616800	Weak transcription	Esophagus	oesophagus
6	chr8:66571800-66619600	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:66572000-66605800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:66572000-66606800	Weak transcription	HUVEC	blood vessel
9	chr8:66572000-66607000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:66572000-66607000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:66572000-66609000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:66572000-66611400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:66572000-66612800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:66572000-66616600	Weak transcription	HMEC	breast
15	chr8:66572000-66617000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:66572000-66617600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:66572000-66617800	Weak transcription	NHDF-Ad	bronchial
18	chr8:66572000-66619600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:66572000-66619600	Weak transcription	NHEK	skin
20	chr8:66572000-66619800	Weak transcription	Lung	lung
21	chr8:66572000-66628400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:66572200-66619800	Weak transcription	A549	lung
23	chr8:66573800-66615200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:66573800-66630400	Weak transcription	Spleen	Spleen
25	chr8:66574200-66608600	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:66574400-66616800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:66578400-66605800	Weak transcription	Adipose Nuclei	Adipose
28	chr8:66579000-66611200	Weak transcription	Pancreas	Pancrea
29	chr8:66579600-66606800	Weak transcription	NH-A	brain
30	chr8:66579600-66607600	Weak transcription	Fetal Intestine Large	intestine
31	chr8:66580000-66619600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:66580400-66618600	Weak transcription	Osteobl	bone
33	chr8:66580400-66619800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:66580600-66619400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:66581000-66603000	Weak transcription	K562	blood
36	chr8:66581000-66609600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:66581000-66619600	Weak transcription	Fetal Lung	lung
38	chr8:66581200-66619400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:66581600-66600000	Weak transcription	Fetal Intestine Small	intestine
40	chr8:66582000-66606800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr8:66582000-66616800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:66582200-66616800	Weak transcription	Right Ventricle	heart
43	chr8:66582600-66608800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:66582800-66606600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:66582800-66617800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:66583000-66616800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:66583600-66619800	Weak transcription	Brain Angular Gyrus	brain
48	chr8:66583800-66610800	Weak transcription	Fetal Stomach	stomach
49	chr8:66583800-66619800	Weak transcription	Aorta	Aorta
50	chr8:66584200-66605800	Weak transcription	Placenta	Placenta

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