Variant report

Variant	rs59027829
Chromosome Location	chr2:128081040-128081041
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	chr2:128077089..128079022-chr2:128080027..128081851,2	MCF-7	breast:
2	chr2:128080706..128082331-chr2:128236038..128238787,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10167294	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10928764	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1143407	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684068	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11899601	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12613252	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12613254	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12613413	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614320	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12617858	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12619391	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13017103	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13034157	0.84[ASN][1000 genomes]
rs13390029	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13403918	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13409933	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13414676	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13429925	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134794	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2139142	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2276682	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276683	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28807127	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3088374	0.93[ASN][1000 genomes]
rs34006114	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34441363	0.84[EUR][1000 genomes]
rs34487399	0.85[EUR][1000 genomes]
rs34601617	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34703177	0.84[EUR][1000 genomes]
rs35708549	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3738948	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3893313	0.87[EUR][1000 genomes]
rs4150434	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4150492	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4150506	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4150514	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4300780	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4359587	0.87[EUR][1000 genomes]
rs4528711	0.82[EUR][1000 genomes]
rs4662721	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4662724	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58063879	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6430937	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6716392	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6735779	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6738811	0.83[EUR][1000 genomes]
rs6747862	0.84[EUR][1000 genomes]
rs6752139	0.83[EUR][1000 genomes]
rs67771362	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7584659	0.87[ASN][1000 genomes]
rs9923	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	esv3377291	chr2:128077236-128083877	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs59027829	AC068282.3	cis	Nerve Tibial	GTEx
rs59027829	MAP3K2	cis	multi-tissue	Pritchard
rs59027829	AC068282.3	cis	Muscle Skeletal	GTEx
rs59027829	AC068282.3	cis	Heart Left Ventricle	GTEx
rs59027829	AC068282.3	cis	Artery Tibial	GTEx
rs59027829	AC068282.3	cis	Esophagus Mucosa	GTEx
rs59027829	AC068282.3	cis	lung	GTEx
rs59027829	AC068282.3	cis	Thyroid	GTEx
rs59027829	AC068282.3	cis	Stomach	GTEx
rs59027829	AC068282.3	cis	Skin Sun Exposed Lower leg	GTEx
rs59027829	AC068282.3	cis	Whole Blood	GTEx
rs59027829	AC068282.3	cis	Artery Aorta	GTEx
rs59027829	AC068282.3	cis	Esophagus Muscularis	GTEx
rs59027829	AC068282.3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128058600-128085600	Strong transcription	Primary B cells from cord blood	blood
2	chr2:128059400-128082800	Strong transcription	Liver	Liver
3	chr2:128059400-128109600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:128059800-128093000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:128061600-128098200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:128061800-128096800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:128062000-128083200	Strong transcription	Primary T cells from cord blood	blood
8	chr2:128062000-128085000	Strong transcription	Duodenum Mucosa	Duodenum
9	chr2:128062000-128086600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:128062400-128094000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr2:128062600-128083400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr2:128062600-128083400	Strong transcription	Thymus	Thymus
13	chr2:128062600-128089400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:128062800-128098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:128063000-128089200	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:128063400-128084800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:128063400-128098400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:128063600-128081200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:128063600-128083400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:128063600-128091800	Strong transcription	Placenta	Placenta
21	chr2:128063800-128081400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:128063800-128083400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:128064200-128083800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:128064200-128090000	Weak transcription	Psoas Muscle	Psoas
25	chr2:128065000-128100200	Weak transcription	Stomach Mucosa	stomach
26	chr2:128066400-128090600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:128068200-128092200	Weak transcription	Pancreas	Pancrea
28	chr2:128069000-128117000	Weak transcription	Small Intestine	intestine
29	chr2:128070200-128081400	Strong transcription	Left Ventricle	heart
30	chr2:128071600-128089000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:128072200-128090000	Weak transcription	Colonic Mucosa	Colon
32	chr2:128072200-128098200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr2:128072200-128101400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:128072200-128109600	Weak transcription	Esophagus	oesophagus
35	chr2:128072200-128111800	Weak transcription	K562	blood
36	chr2:128072600-128112000	Weak transcription	NHEK	skin
37	chr2:128073200-128088800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:128074800-128106800	Weak transcription	Spleen	Spleen
39	chr2:128075600-128081400	Strong transcription	Rectal Smooth Muscle	rectum
40	chr2:128075800-128081400	Strong transcription	Fetal Stomach	stomach
41	chr2:128076000-128095400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:128076600-128082200	Weak transcription	NHLF	lung
43	chr2:128076600-128102800	Weak transcription	Hela-S3	cervix
44	chr2:128077000-128090000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:128077000-128094000	Weak transcription	Gastric	stomach
46	chr2:128077000-128116200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:128077200-128089200	Weak transcription	Lung	lung
48	chr2:128077200-128122800	Weak transcription	Aorta	Aorta
49	chr2:128077400-128081400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:128077800-128081400	Strong transcription	Fetal Brain Female	brain

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