Variant report

Variant	rs2236584
Chromosome Location	chr1:159014645-159014646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11265134	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12098223	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12124059	0.87[ASN][1000 genomes]
rs1616024	0.88[EUR][1000 genomes]
rs1633266	0.88[EUR][1000 genomes]
rs1633267	0.88[EUR][1000 genomes]
rs1772407	0.88[EUR][1000 genomes]
rs2518555	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793844	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793845	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2814770	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814771	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2852695	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852696	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018316	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737522	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754460	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3768513	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3768514	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3768515	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3768519	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3768523	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6940	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74122214	0.94[EUR][1000 genomes]
rs74122232	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7532207	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs855865	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv1797158	chr1:159012238-159019423	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
3	esv6708	chr1:159012332-159016796	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
4	esv13216	chr1:159012766-159019831	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	nsv548045	chr1:159012772-159017922	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	inside rSNPs	diseases
6	nsv825019	chr1:159012855-159019577	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	nsv548046	chr1:159012904-159019102	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	esv3514666	chr1:159013428-159020276	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
9	nsv548047	chr1:159013775-159018359	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
10	nsv825032	chr1:159013914-159016984	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
11	esv3504232	chr1:159014020-159018306	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
12	esv3504234	chr1:159014020-159018306	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
13	esv3504233	chr1:159014078-159019176	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	inside rSNPs	diseases
14	nsv548048	chr1:159014351-159017922	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
15	esv3499770	chr1:159014632-159016686	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
16	esv3499771	chr1:159014632-159016686	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
17	esv3514665	chr1:159014639-159019487	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	inside rSNPs	diseases
18	esv3514667	chr1:159014639-159019487	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2236584	AIM2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158980200-159025400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:158982600-159027400	Weak transcription	Fetal Kidney	kidney
3	chr1:158984200-159024200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:158984800-159027400	Weak transcription	Psoas Muscle	Psoas
5	chr1:158985400-159023800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:158986000-159016200	Weak transcription	Stomach Mucosa	stomach
7	chr1:158988200-159016600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:158988600-159024000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:158993000-159023200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:158997600-159017000	Strong transcription	Primary B cells from cord blood	blood
11	chr1:158998400-159024000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:158998600-159015600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:158998800-159033800	Weak transcription	Fetal Brain Female	brain
14	chr1:158999000-159022800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:158999200-159023800	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:159000000-159026200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:159000400-159024200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:159000600-159020200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:159000600-159023800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:159001000-159016000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:159001000-159016600	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:159001000-159027400	Weak transcription	Right Ventricle	heart
23	chr1:159001200-159017200	Strong transcription	HUVEC	blood vessel
24	chr1:159001400-159020200	Weak transcription	Brain Anterior Caudate	brain
25	chr1:159001400-159020200	Weak transcription	Gastric	stomach
26	chr1:159001400-159024200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:159001400-159036200	Weak transcription	Small Intestine	intestine
28	chr1:159001600-159028400	Strong transcription	Fetal Thymus	thymus
29	chr1:159003000-159022000	Weak transcription	Fetal Brain Male	brain
30	chr1:159003400-159021400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:159003400-159021400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:159004600-159022800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:159004800-159020200	Weak transcription	Colonic Mucosa	Colon
34	chr1:159005400-159023200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:159005600-159027200	Weak transcription	Brain Angular Gyrus	brain
36	chr1:159006800-159024200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:159007200-159026800	Weak transcription	Pancreas	Pancrea
38	chr1:159009000-159023000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:159009000-159026400	Strong transcription	Dnd41	blood
40	chr1:159009200-159030400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:159009400-159016800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr1:159009400-159020200	Weak transcription	Fetal Intestine Small	intestine
43	chr1:159009600-159016600	Weak transcription	Esophagus	oesophagus
44	chr1:159010600-159023800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:159010600-159026400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:159011200-159020400	Weak transcription	Aorta	Aorta
47	chr1:159011400-159016000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:159011400-159017000	Strong transcription	NHDF-Ad	bronchial
49	chr1:159011400-159017400	Strong transcription	HMEC	breast
50	chr1:159011400-159020000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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