Variant report

Variant	rs2366818
Chromosome Location	chr2:86015651-86015652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86015229..86018634-chr2:86021632..86024903,4	K562	blood:
2	chr2:85980611..85983485-chr2:86014274..86016062,2	MCF-7	breast:
3	chr2:86013750..86016057-chr2:86037086..86038756,2	K562	blood:
4	chr2:86013683..86016312-chr2:86025949..86028304,2	MCF-7	breast:
5	chr2:86011226..86014071-chr2:86015355..86018702,3	K562	blood:
6	chr2:86005993..86008298-chr2:86013315..86016426,3	MCF-7	breast:
7	chr2:86015379..86018037-chr2:86020333..86023146,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10190632	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10192235	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13392366	0.89[ASN][1000 genomes]
rs1914821	1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[ASN][1000 genomes]
rs2001593	0.89[ASN][1000 genomes]
rs2139198	0.86[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs35976024	0.89[EUR][1000 genomes]
rs734042	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs869778	0.86[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs934775	0.82[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1001792	chr2:85983107-86016722	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv535805	chr2:85983107-86016722	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2366818	CYP4A22	trans	parietal	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86001400-86023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:86001600-86020000	Weak transcription	Fetal Brain Female	brain
3	chr2:86001600-86023000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:86002200-86015800	Weak transcription	A549	lung
5	chr2:86004800-86017200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:86005400-86019200	Weak transcription	HUVEC	blood vessel
7	chr2:86006600-86019000	Weak transcription	Esophagus	oesophagus
8	chr2:86006800-86020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:86007000-86019200	Weak transcription	Hela-S3	cervix
10	chr2:86008200-86016000	Weak transcription	Pancreas	Pancrea
11	chr2:86012000-86016400	Enhancers	Right Atrium	heart
12	chr2:86012000-86019000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:86012400-86016400	Genic enhancers	Right Ventricle	heart
14	chr2:86013200-86015800	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr2:86013200-86016000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:86013200-86017200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:86013200-86017400	Weak transcription	Brain Germinal Matrix	brain
18	chr2:86013200-86023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:86013400-86017400	Weak transcription	NH-A	brain
20	chr2:86013400-86019000	Weak transcription	Psoas Muscle	Psoas
21	chr2:86013600-86015800	Genic enhancers	Aorta	Aorta
22	chr2:86013600-86017400	Strong transcription	Adipose Nuclei	Adipose
23	chr2:86013600-86017800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:86013600-86019000	Weak transcription	NHDF-Ad	bronchial
25	chr2:86013600-86023200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:86013800-86016800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:86013800-86019200	Weak transcription	HSMMtube	muscle
28	chr2:86014000-86015800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:86014000-86015800	Genic enhancers	Stomach Smooth Muscle	stomach
30	chr2:86014000-86015800	Strong transcription	NHLF	lung
31	chr2:86014000-86015800	Strong transcription	Osteobl	bone
32	chr2:86014000-86016000	Strong transcription	Brain Anterior Caudate	brain
33	chr2:86014000-86016000	Strong transcription	Fetal Muscle Leg	muscle
34	chr2:86014000-86016000	Strong transcription	Gastric	stomach
35	chr2:86014000-86016200	Strong transcription	Fetal Intestine Small	intestine
36	chr2:86014000-86017000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:86014000-86017800	Strong transcription	Fetal Lung	lung
38	chr2:86014000-86019000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:86014000-86019600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:86014200-86017400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:86014200-86023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:86014400-86015800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:86014400-86015800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:86014400-86015800	Strong transcription	Brain Hippocampus Middle	brain
45	chr2:86014400-86016000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:86014400-86016600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr2:86014400-86018200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:86014600-86015800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:86014600-86015800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:86014800-86016800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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