Variant report

Variant	rs6983230
Chromosome Location	chr8:66541636-66541637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66540600..66542392-chr8:66544818..66546528,2	MCF-7	breast:
2	chr8:66540570..66542467-chr8:66555055..66556755,2	MCF-7	breast:
3	chr8:66538964..66541698-chr8:66621567..66623438,2	K562	blood:

Variant related genes	Relation type
ENSG00000104442	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10102473	0.81[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.96[TSI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1022252	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10808746	0.91[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11775485	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11996845	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12156235	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13275737	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1473600	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932226	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2048648	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2175810	0.91[CHB][hapmap]
rs4236943	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737220	0.91[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs4737740	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6991731	0.91[CHB][hapmap]
rs7006732	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[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011819	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7833031	0.91[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7842162	0.91[CHB][hapmap]
rs9298104	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs953593	0.80[ASN][1000 genomes]
rs9643393	0.83[EUR][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	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6983230	ARMC1	cis	parietal	SCAN
rs6983230	MTFR1	cis	cerebellum	SCAN
rs6983230	ARMC1	cis	lymphoblastoid	seeQTL
rs6983230	ARMC1	cis	multi-tissue	Pritchard
rs6983230	GGH	cis	parietal	SCAN
rs6983230	ARMC1	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66504000-66545200	Weak transcription	Fetal Brain Male	brain
2	chr8:66506800-66545200	Weak transcription	Stomach Mucosa	stomach
3	chr8:66508000-66545200	Weak transcription	Fetal Heart	heart
4	chr8:66518000-66545600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:66519600-66545200	Weak transcription	Right Atrium	heart
6	chr8:66520000-66545000	Weak transcription	NHEK	skin
7	chr8:66522600-66545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:66525600-66545200	Weak transcription	Fetal Kidney	kidney
9	chr8:66529200-66541800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:66529600-66541800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:66529800-66541800	Strong transcription	Fetal Thymus	thymus
12	chr8:66529800-66542000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:66530200-66545000	Weak transcription	Hela-S3	cervix
14	chr8:66532000-66545600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:66532400-66545600	Weak transcription	Aorta	Aorta
16	chr8:66533600-66542600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:66533600-66545200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:66534000-66545200	Weak transcription	Brain Angular Gyrus	brain
19	chr8:66534200-66545200	Weak transcription	Colonic Mucosa	Colon
20	chr8:66534400-66545200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:66534600-66545200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:66535000-66544800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:66535000-66545200	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:66535200-66545200	Weak transcription	Esophagus	oesophagus
25	chr8:66535200-66545600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:66536400-66543200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:66537200-66541800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:66537600-66545200	Weak transcription	Gastric	stomach
29	chr8:66537800-66544800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:66537800-66545000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:66538000-66543800	Weak transcription	HSMM	muscle
32	chr8:66538000-66545200	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:66538000-66545200	Weak transcription	NH-A	brain
34	chr8:66538200-66545000	Weak transcription	A549	lung
35	chr8:66538600-66545000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:66539000-66544800	Weak transcription	HMEC	breast
37	chr8:66539200-66545000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:66539200-66545000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:66539200-66545000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:66539200-66545200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:66539400-66544800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:66539400-66545000	Weak transcription	Fetal Lung	lung
43	chr8:66539400-66545200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:66539400-66545200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:66539600-66543400	Weak transcription	Fetal Stomach	stomach
46	chr8:66539600-66544400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:66539600-66544400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:66539600-66544600	Weak transcription	Primary B cells from cord blood	blood
49	chr8:66539600-66544600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:66539600-66544800	Weak transcription	Brain Germinal Matrix	brain

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