Variant report

Variant	rs12120036
Chromosome Location	chr1:93455315-93455316
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93322943..93324731-chr1:93454572..93457463,2	K562	blood:
2	chr1:93448732..93450681-chr1:93454344..93456846,2	K562	blood:
3	chr1:93452194..93457760-chr1:93458258..93461631,4	K562	blood:
4	chr1:93428117..93429773-chr1:93455192..93456852,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1011663	1.00[ASN][1000 genomes]
rs10747454	0.88[ASN][1000 genomes]
rs11164850	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11164851	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11164854	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12049007	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130044	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133990	0.85[ASN][1000 genomes]
rs12144226	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1678784	0.93[ASN][1000 genomes]
rs2086314	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127398	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127400	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28561471	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3943283	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4515797	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4847226	0.99[ASN][1000 genomes]
rs4847389	0.84[ASN][1000 genomes]
rs514235	0.81[ASN][1000 genomes]
rs521428	0.90[ASN][1000 genomes]
rs534409	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs567613	0.93[ASN][1000 genomes]
rs594527	0.93[ASN][1000 genomes]
rs606344	0.93[ASN][1000 genomes]
rs619784	0.93[ASN][1000 genomes]
rs641462	0.90[ASN][1000 genomes]
rs660870	0.93[ASN][1000 genomes]
rs663112	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6671268	0.81[ASN][1000 genomes]
rs6681429	0.81[ASN][1000 genomes]
rs7517539	0.90[ASN][1000 genomes]
rs7524934	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs753391	0.92[ASN][1000 genomes]
rs770883	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs945630	0.86[EUR][1000 genomes];0.88[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12120036	FAM69A	Cis_1M	lymphoblastoid	RTeQTL
rs12120036	FAM69A	cis	Thyroid	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93451800-93466000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:93452400-93458600	Weak transcription	HSMMtube	muscle
3	chr1:93452600-93456000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:93453800-93456200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:93454400-93458800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:93454600-93455800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:93454600-93455800	Enhancers	Dnd41	blood
8	chr1:93454600-93458000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:93454600-93458200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:93454600-93458400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:93454600-93458800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr1:93454600-93459800	Enhancers	Primary T cells from cord blood	blood
13	chr1:93454600-93459800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:93454800-93456000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:93454800-93456000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:93454800-93456000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:93454800-93456400	Enhancers	NHDF-Ad	bronchial
18	chr1:93454800-93458200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr1:93454800-93459800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:93455000-93455600	Enhancers	NHEK	skin
21	chr1:93455000-93455800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:93455000-93456400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:93455000-93457400	Enhancers	HepG2	liver
24	chr1:93455200-93455400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:93455200-93456000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:93455200-93457800	Enhancers	Fetal Thymus	thymus
27	chr1:93455200-93457800	Enhancers	K562	blood

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