Variant report

Variant	rs12046063
Chromosome Location	chr1:93722562-93722563
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	chr1:93717455..93719072-chr1:93721833..93723353,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10874766	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11164885	0.87[ASN][1000 genomes]
rs11164896	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11164905	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12027142	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12030843	0.87[ASN][1000 genomes]
rs12031765	0.87[ASN][1000 genomes]
rs12033147	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12036057	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12038046	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12044557	0.87[ASN][1000 genomes]
rs12045001	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12048219	0.88[ASN][1000 genomes]
rs12405487	0.81[ASN][1000 genomes]
rs12563709	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2255722	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2391251	0.81[ASN][1000 genomes]
rs2484486	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2783490	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2783493	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2783495	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2783496	0.92[EUR][1000 genomes]
rs2783497	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2783505	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2815406	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28782525	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2893242	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3087457	0.84[EUR][1000 genomes]
rs3904665	0.87[ASN][1000 genomes]
rs3904666	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4484937	0.86[ASN][1000 genomes]
rs58354545	0.87[ASN][1000 genomes]
rs61799470	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61799497	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61799500	0.87[ASN][1000 genomes]
rs61799516	0.81[ASN][1000 genomes]
rs61799517	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61799538	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6676902	0.81[ASN][1000 genomes]
rs6684908	0.81[ASN][1000 genomes]
rs72959220	0.87[ASN][1000 genomes]
rs771454	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs771461	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs771465	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs771470	0.82[EUR][1000 genomes]
rs771476	0.84[EUR][1000 genomes]
rs771479	0.84[EUR][1000 genomes]
rs771482	0.84[EUR][1000 genomes]
rs810027	0.84[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	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12046063	DR1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93756400	Weak transcription	Gastric	stomach
2	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:93666600-93727000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:93690400-93729400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:93691200-93732400	Weak transcription	HUVEC	blood vessel
6	chr1:93692200-93787800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:93704200-93729800	Weak transcription	Hela-S3	cervix
8	chr1:93706400-93727000	Weak transcription	K562	blood
9	chr1:93707000-93727400	Weak transcription	Liver	Liver
10	chr1:93709000-93724200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:93709000-93726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:93709000-93727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:93709000-93728200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:93709000-93728200	Weak transcription	HMEC	breast
15	chr1:93709200-93727400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:93709400-93727600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:93709600-93725000	Weak transcription	HepG2	liver
18	chr1:93709600-93725600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:93709600-93727000	Weak transcription	NHEK	skin
20	chr1:93709800-93727000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:93709800-93727000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:93710000-93727000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:93710200-93724200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:93710200-93727000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:93710600-93724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:93711600-93727000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:93713200-93727000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:93716200-93728400	Weak transcription	Pancreas	Pancrea
29	chr1:93716800-93727600	Weak transcription	Fetal Kidney	kidney
30	chr1:93717200-93726200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:93717800-93725600	Strong transcription	Dnd41	blood
32	chr1:93717800-93727800	Weak transcription	Ovary	ovary
33	chr1:93718200-93727000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:93718400-93727000	Weak transcription	Fetal Lung	lung
35	chr1:93718400-93727000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:93718600-93727000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:93718600-93727800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:93718600-93728200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:93718800-93724400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:93718800-93727000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:93718800-93727400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:93718800-93728000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:93718800-93728200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:93718800-93728200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr1:93719000-93724000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr1:93719000-93724400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:93719000-93727000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:93719000-93727400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:93719000-93727600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:93719000-93727600	Weak transcription	Fetal Muscle Trunk	muscle

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