Variant report

Variant	rs12678467
Chromosome Location	chr8:66560782-66560783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66556070..66558331-chr8:66560189..66563116,2	MCF-7	breast:
2	chr8:66556961..66558748-chr8:66559228..66561370,2	K562	blood:
3	chr8:66552932..66555499-chr8:66560225..66562649,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066855	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10087361	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10088623	0.85[GIH][hapmap];0.80[MEX][hapmap];0.80[YRI][hapmap]
rs10089029	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10089708	0.84[ASN][1000 genomes]
rs10092109	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10097461	0.98[ASN][1000 genomes]
rs10110985	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10216810	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs1053085	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1053087	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1053088	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10957361	0.99[ASN][1000 genomes]
rs1122353	0.82[EUR][1000 genomes]
rs11776709	0.89[ASN][1000 genomes]
rs11776712	0.89[ASN][1000 genomes]
rs11985628	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11990855	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11991758	0.85[GIH][hapmap];0.81[MEX][hapmap]
rs12335006	0.97[ASN][1000 genomes]
rs12335276	0.99[ASN][1000 genomes]
rs12542226	0.88[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs12543053	0.97[ASN][1000 genomes]
rs12544767	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12677419	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12677891	0.85[GIH][hapmap];0.81[MEX][hapmap];0.82[YRI][hapmap]
rs12680947	0.92[EUR][1000 genomes]
rs13252358	0.87[ASN][1000 genomes]
rs13266834	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13267942	0.96[ASN][1000 genomes]
rs13268343	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs13281155	0.97[ASN][1000 genomes]
rs14213	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1473601	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1533285	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16932245	0.97[ASN][1000 genomes]
rs16932250	0.97[ASN][1000 genomes]
rs16932290	0.89[YRI][hapmap]
rs16932314	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1877638	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1877641	0.88[CEU][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs2048650	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2102648	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2175809	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2175810	0.84[ASN][1000 genomes]
rs2357476	0.84[ASN][1000 genomes]
rs28415299	0.94[ASN][1000 genomes]
rs28576524	0.82[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];0.88[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28613797	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3268	0.97[ASN][1000 genomes]
rs34226237	0.97[ASN][1000 genomes]
rs34494846	0.97[ASN][1000 genomes]
rs34533611	0.96[ASN][1000 genomes]
rs34851482	0.97[ASN][1000 genomes]
rs35038843	0.97[ASN][1000 genomes]
rs35790435	0.96[ASN][1000 genomes]
rs35941313	0.96[ASN][1000 genomes]
rs3750184	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765205	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3812412	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4275254	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4320587	0.96[ASN][1000 genomes]
rs4384017	0.83[ASN][1000 genomes]
rs4388482	0.96[ASN][1000 genomes]
rs4397444	0.97[ASN][1000 genomes]
rs4637885	0.95[ASN][1000 genomes]
rs4637886	0.97[ASN][1000 genomes]
rs4737222	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4737747	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4737748	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4737749	0.99[ASN][1000 genomes]
rs4737750	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs5018458	0.97[ASN][1000 genomes]
rs55707653	0.81[AMR][1000 genomes]
rs57419568	0.97[ASN][1000 genomes]
rs60023200	0.91[ASN][1000 genomes]
rs60058315	0.97[ASN][1000 genomes]
rs6472210	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6472213	0.97[ASN][1000 genomes]
rs6472214	0.87[ASN][1000 genomes]
rs6472215	0.98[ASN][1000 genomes]
rs6472216	0.97[ASN][1000 genomes]
rs6472217	0.98[ASN][1000 genomes]
rs6472218	0.99[ASN][1000 genomes]
rs66467166	0.83[ASN][1000 genomes]
rs66486920	0.91[ASN][1000 genomes]
rs67046768	0.91[ASN][1000 genomes]
rs67131486	0.93[ASN][1000 genomes]
rs67685675	0.91[ASN][1000 genomes]
rs6985897	0.89[ASN][1000 genomes]
rs6985932	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6986691	0.99[ASN][1000 genomes]
rs6991731	0.84[ASN][1000 genomes]
rs6993876	0.97[ASN][1000 genomes]
rs6994213	0.97[ASN][1000 genomes]
rs6995242	0.97[ASN][1000 genomes]
rs6997959	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7006261	0.99[ASN][1000 genomes]
rs7006648	0.91[ASN][1000 genomes]
rs7007505	0.99[ASN][1000 genomes]
rs7011464	0.91[CHB][hapmap]
rs7012578	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7012856	0.99[ASN][1000 genomes]
rs7016472	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71930161	0.99[ASN][1000 genomes]
rs73236948	0.97[ASN][1000 genomes]
rs73236986	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73239011	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73239085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7459737	0.94[ASN][1000 genomes]
rs7464123	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7464223	0.94[ASN][1000 genomes]
rs7812390	0.97[ASN][1000 genomes]
rs7812446	0.97[ASN][1000 genomes]
rs7814841	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7815488	0.97[ASN][1000 genomes]
rs7817112	0.95[ASN][1000 genomes]
rs7823840	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7832407	0.99[ASN][1000 genomes]
rs7835313	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7836349	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7836746	0.97[ASN][1000 genomes]
rs7841652	0.96[ASN][1000 genomes]
rs7842162	0.84[ASN][1000 genomes]
rs7846527	0.96[ASN][1000 genomes]
rs953593	0.91[CHB][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12678467	ARMC1	cis	lymphoblastoid	seeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66557800-66564400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:66558000-66561000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:66558000-66564200	Weak transcription	Psoas Muscle	Psoas
4	chr8:66558000-66565000	Weak transcription	Pancreas	Pancrea
5	chr8:66558000-66565200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:66558000-66567000	Weak transcription	Gastric	stomach
7	chr8:66558000-66567200	Weak transcription	Adipose Nuclei	Adipose
8	chr8:66558000-66567400	Weak transcription	Ovary	ovary
9	chr8:66558000-66568800	Weak transcription	Fetal Intestine Small	intestine
10	chr8:66558000-66569400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:66558000-66569600	Weak transcription	Esophagus	oesophagus
12	chr8:66558000-66571000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:66558000-66571000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:66558000-66571000	Weak transcription	Fetal Lung	lung
15	chr8:66558000-66571000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:66558000-66571000	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:66558000-66571000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:66558000-66571000	Weak transcription	Thymus	Thymus
19	chr8:66558000-66571000	Weak transcription	HSMMtube	muscle
20	chr8:66558000-66571000	Weak transcription	NH-A	brain
21	chr8:66558000-66571200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:66558000-66571200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:66558000-66571600	Weak transcription	Lung	lung
24	chr8:66558000-66582400	Weak transcription	Placenta	Placenta
25	chr8:66558000-66583400	Weak transcription	Aorta	Aorta
26	chr8:66558000-66585200	Weak transcription	Left Ventricle	heart
27	chr8:66558200-66562200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:66558200-66569600	Weak transcription	Fetal Stomach	stomach
29	chr8:66558200-66570600	Weak transcription	Fetal Intestine Large	intestine
30	chr8:66558200-66570800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:66558200-66570800	Weak transcription	Primary B cells from cord blood	blood
32	chr8:66558200-66570800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:66558200-66571000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:66558200-66571000	Weak transcription	HSMM	muscle
35	chr8:66558200-66571200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:66558200-66573600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:66558400-66562200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:66558400-66562600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:66558400-66567200	Weak transcription	Stomach Mucosa	stomach
40	chr8:66558400-66567600	Weak transcription	NHDF-Ad	bronchial
41	chr8:66558400-66568800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:66558400-66569400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:66558400-66569800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:66558400-66570000	Weak transcription	Osteobl	bone
45	chr8:66558400-66571000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:66558400-66606800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:66558600-66564000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:66558600-66565400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:66558600-66566800	Weak transcription	A549	lung
50	chr8:66558600-66567000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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