Variant report

Variant	rs12282486
Chromosome Location	chr11:102253554-102253555
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102244673..102246560-chr11:102251384..102254189,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1058606	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895292	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895293	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10895296	0.85[EUR][1000 genomes]
rs11225222	1.00[ASN][1000 genomes]
rs11225229	1.00[ASN][1000 genomes]
rs11225235	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225236	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225237	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225242	0.85[EUR][1000 genomes]
rs11225243	0.85[EUR][1000 genomes]
rs11225244	0.85[EUR][1000 genomes]
rs11225247	0.85[EUR][1000 genomes]
rs11225251	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11501342	1.00[ASN][1000 genomes]
rs11501343	1.00[ASN][1000 genomes]
rs11501344	1.00[ASN][1000 genomes]
rs11547915	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11547916	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601671	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603677	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604008	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604189	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605010	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605066	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605087	1.00[ASN][1000 genomes]
rs11605133	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605573	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605915	1.00[ASN][1000 genomes]
rs11607214	1.00[ASN][1000 genomes]
rs11607657	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607908	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269847	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270109	1.00[ASN][1000 genomes]
rs12271457	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271900	0.83[EUR][1000 genomes]
rs12273698	1.00[ASN][1000 genomes]
rs12274405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275185	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275349	1.00[ASN][1000 genomes]
rs12277594	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277747	0.83[EUR][1000 genomes]
rs12277853	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279056	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283885	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290033	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291114	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293094	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12293834	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275850	1.00[ASN][1000 genomes]
rs12792649	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290044	1.00[ASN][1000 genomes]
rs1318199	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377311	1.00[ASN][1000 genomes]
rs1574410	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349689	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350205	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350590	0.83[EUR][1000 genomes]
rs1943781	1.00[ASN][1000 genomes]
rs2510491	1.00[ASN][1000 genomes]
rs34104132	1.00[ASN][1000 genomes]
rs34296997	1.00[ASN][1000 genomes]
rs34740624	1.00[ASN][1000 genomes]
rs35457182	1.00[ASN][1000 genomes]
rs35569122	1.00[ASN][1000 genomes]
rs35623064	1.00[ASN][1000 genomes]
rs35972941	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484068	1.00[ASN][1000 genomes]
rs485020	1.00[ASN][1000 genomes]
rs525305	1.00[ASN][1000 genomes]
rs531350	1.00[ASN][1000 genomes]
rs57346058	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57562739	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577850	1.00[ASN][1000 genomes]
rs58250524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60056981	0.83[EUR][1000 genomes]
rs61123589	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61334418	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895370	1.00[ASN][1000 genomes]
rs61895375	1.00[ASN][1000 genomes]
rs61895376	1.00[ASN][1000 genomes]
rs637708	1.00[ASN][1000 genomes]
rs670334	1.00[ASN][1000 genomes]
rs7104841	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113906	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114048	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2484190	chr11:102253337-102254883	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102220000-102283000	Weak transcription	Hela-S3	cervix
2	chr11:102225600-102255400	Weak transcription	Fetal Heart	heart
3	chr11:102232400-102259600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:102232600-102255000	Weak transcription	Right Atrium	heart
5	chr11:102235600-102255000	Weak transcription	Right Ventricle	heart
6	chr11:102235800-102259600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:102237000-102255400	Weak transcription	Aorta	Aorta
8	chr11:102237000-102263800	Weak transcription	Small Intestine	intestine
9	chr11:102239600-102259000	Weak transcription	Fetal Brain Male	brain
10	chr11:102239800-102254600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:102245400-102278000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:102245600-102253800	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr11:102245600-102255200	Strong transcription	Placenta	Placenta
14	chr11:102245600-102256600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr11:102245600-102258600	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr11:102245600-102266200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:102245600-102275600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:102245800-102257200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:102245800-102260400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:102245800-102260800	Strong transcription	HSMM	muscle
21	chr11:102245800-102275000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr11:102246000-102253800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:102246000-102255000	Weak transcription	Lung	lung
24	chr11:102246000-102255200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:102246000-102255800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:102246000-102261800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:102246000-102278400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:102246200-102255000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:102246200-102255000	Weak transcription	Esophagus	oesophagus
30	chr11:102246200-102255000	Weak transcription	Spleen	Spleen
31	chr11:102246200-102255400	Strong transcription	Fetal Thymus	thymus
32	chr11:102246200-102261800	Weak transcription	Gastric	stomach
33	chr11:102246200-102263800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:102246200-102267000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:102246200-102274400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:102246200-102281000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:102246200-102281000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:102246200-102281000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:102246800-102256800	Weak transcription	A549	lung
40	chr11:102246800-102277800	Weak transcription	Stomach Mucosa	stomach
41	chr11:102247000-102254200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:102247400-102254000	Strong transcription	HMEC	breast
43	chr11:102247400-102275400	Strong transcription	Primary B cells from cord blood	blood
44	chr11:102247600-102253600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:102247600-102253600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:102247800-102255200	Weak transcription	Pancreas	Pancrea
47	chr11:102247800-102261800	Strong transcription	Liver	Liver
48	chr11:102247800-102263600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:102248200-102258000	Strong transcription	Osteobl	bone
50	chr11:102248400-102255000	Strong transcription	Primary T cells from cord blood	blood

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