Variant report

Variant	rs4303732
Chromosome Location	chr2:100830040-100830041
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	chr2:100828123..100832534-chr2:100834410..100837969,5	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10194635	0.85[ASN][1000 genomes]
rs10496345	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10496346	0.83[EUR][1000 genomes]
rs10865035	0.88[ASN][1000 genomes]
rs10865037	0.80[ASN][1000 genomes]
rs11123817	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11123818	0.83[EUR][1000 genomes]
rs11123820	0.80[ASN][1000 genomes]
rs11123821	0.80[ASN][1000 genomes]
rs1122231	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1160542	0.85[ASN][1000 genomes]
rs1160543	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1160544	0.85[ASN][1000 genomes]
rs1160545	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11678979	0.86[ASN][1000 genomes]
rs11684761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11685491	0.87[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs11686372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11687241	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11689199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11689201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690335	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11691409	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11691869	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11693324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11695383	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11695996	0.87[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs12053126	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12614880	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12615145	0.83[EUR][1000 genomes]
rs12619178	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12712073	0.84[ASN][1000 genomes]
rs12987662	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12991254	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12992090	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12994592	0.87[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs13002946	0.84[ASN][1000 genomes]
rs13010010	0.83[EUR][1000 genomes]
rs13013169	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13017207	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13018640	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026143	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13026283	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13034176	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1465800	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1465801	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2309757	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2309812	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2309837	0.85[ASN][1000 genomes]
rs2309838	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2871344	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4583487	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4851264	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851266	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4851267	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4851268	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4851269	0.85[ASN][1000 genomes]
rs4851270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4851271	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6709656	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6722241	0.82[ASN][1000 genomes]
rs6722661	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6750097	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6750505	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6754937	0.85[ASN][1000 genomes]
rs7566527	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs893246	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9653442	0.85[ASN][1000 genomes]
rs999052	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4303732	ADRA2B	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100822200-100830200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:100822200-100830400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:100822400-100830200	Weak transcription	Lung	lung
4	chr2:100824400-100830400	Weak transcription	Right Atrium	heart
5	chr2:100825200-100832400	Weak transcription	Fetal Brain Female	brain
6	chr2:100825400-100830200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:100826400-100830200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:100826400-100832200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:100827800-100830400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:100827800-100832200	Enhancers	Psoas Muscle	Psoas
11	chr2:100827800-100832200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:100828600-100830200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:100828800-100830200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:100828800-100832400	Enhancers	Fetal Heart	heart
15	chr2:100829000-100831000	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:100829000-100831600	Enhancers	Placenta	Placenta
17	chr2:100829000-100832200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:100829000-100832400	Enhancers	Left Ventricle	heart
19	chr2:100829200-100831000	Enhancers	Liver	Liver
20	chr2:100829200-100832200	Enhancers	Aorta	Aorta
21	chr2:100829200-100832200	Enhancers	Fetal Muscle Leg	muscle
22	chr2:100829200-100832400	Enhancers	Right Ventricle	heart
23	chr2:100829200-100832800	Enhancers	Colon Smooth Muscle	Colon
24	chr2:100829400-100830400	Weak transcription	Gastric	stomach
25	chr2:100829400-100831400	Enhancers	Adipose Nuclei	Adipose
26	chr2:100829400-100831800	Enhancers	Fetal Lung	lung
27	chr2:100829600-100830800	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:100829600-100831600	Enhancers	Stomach Mucosa	stomach
29	chr2:100829800-100830200	Enhancers	Stomach Smooth Muscle	stomach
30	chr2:100829800-100831400	Enhancers	Colonic Mucosa	Colon
31	chr2:100829800-100831400	Enhancers	Small Intestine	intestine
32	chr2:100829800-100831600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr2:100829800-100831600	Enhancers	Fetal Intestine Large	intestine
34	chr2:100829800-100831800	Enhancers	Fetal Intestine Small	intestine
35	chr2:100830000-100830400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:100830000-100830400	Bivalent Enhancer	HSMMtube	muscle
37	chr2:100830000-100831200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:100830000-100831200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr2:100830000-100831400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:100830000-100831400	Enhancers	Ovary	ovary

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