Variant report

Variant	rs12726286
Chromosome Location	chr1:93334379-93334380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93330015..93332710-chr1:93333537..93335536,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10874745	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164825	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11582791	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586089	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586570	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062315	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12082659	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12728322	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12738654	0.84[EUR][1000 genomes]
rs12746956	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12750269	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1854797	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2893226	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34041593	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34098754	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34168045	0.85[EUR][1000 genomes]
rs34244251	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35031391	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35051335	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35183060	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58270016	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604026	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66525381	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657809	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687931	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71652510	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514280	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521417	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554594	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv508393	chr1:93290513-93344924	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12726286	FAM69A	cis	Artery Tibial	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93304400-93349000	Weak transcription	Aorta	Aorta
2	chr1:93309800-93342400	Weak transcription	NHLF	lung
3	chr1:93314400-93338000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:93316000-93342800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:93316200-93338200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:93316200-93338400	Weak transcription	Fetal Stomach	stomach
7	chr1:93318600-93338200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:93320400-93342000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:93324400-93338200	Weak transcription	Fetal Intestine Small	intestine
10	chr1:93325000-93337800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:93325000-93338200	Weak transcription	HMEC	breast
12	chr1:93325000-93342800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:93325000-93343000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:93325200-93338000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:93325200-93338000	Weak transcription	A549	lung
16	chr1:93325200-93338000	Weak transcription	GM12878-XiMat	blood
17	chr1:93325200-93338200	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:93325200-93338400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:93325200-93339200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:93325200-93342800	Weak transcription	Liver	Liver
21	chr1:93325200-93343600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:93325200-93348400	Weak transcription	NHEK	skin
23	chr1:93325400-93334800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:93325400-93334800	Weak transcription	Fetal Thymus	thymus
25	chr1:93325400-93334800	Weak transcription	Thymus	Thymus
26	chr1:93325400-93338400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:93325400-93342000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:93325400-93343400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:93325600-93334800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:93325600-93338200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:93325600-93339800	Weak transcription	Brain Anterior Caudate	brain
32	chr1:93325600-93343200	Weak transcription	HSMMtube	muscle
33	chr1:93325800-93340000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:93326000-93338200	Weak transcription	Dnd41	blood
35	chr1:93326000-93339800	Weak transcription	Brain Angular Gyrus	brain
36	chr1:93328600-93335000	Weak transcription	Primary T cells from cord blood	blood
37	chr1:93328600-93338200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:93328600-93342600	Weak transcription	NHDF-Ad	bronchial
39	chr1:93328800-93338200	Weak transcription	Adipose Nuclei	Adipose
40	chr1:93329800-93336200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:93331200-93338000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:93332000-93340600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:93333000-93348600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:93333600-93343000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:93333800-93338200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:93334000-93336200	Weak transcription	Primary B cells from cord blood	blood
47	chr1:93334000-93336400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr1:93334200-93337000	Weak transcription	Brain Hippocampus Middle	brain

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