Variant report

Variant	rs12285249
Chromosome Location	chr11:86153609-86153610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86152679..86155183-chr11:86156191..86160903,4	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10466700	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10466729	1.00[ASN][1000 genomes]
rs10466730	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234647	1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs11234648	1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs11824889	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828146	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11828283	1.00[ASN][1000 genomes]
rs12270471	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12270570	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12270761	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270790	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272259	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12273667	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12276248	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12277432	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278247	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12280555	1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12280833	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12281645	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12283035	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288560	1.00[ASN][1000 genomes]
rs12289817	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12291532	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292316	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12293159	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293545	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12294756	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804130	1.00[ASN][1000 genomes]
rs12804407	1.00[ASN][1000 genomes]
rs12805940	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs1452136	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1452137	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1458381	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17149063	1.00[ASN][1000 genomes]
rs17149064	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17819176	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs2242142	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279047	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs34416639	1.00[ASN][1000 genomes]
rs34939684	1.00[ASN][1000 genomes]
rs35686713	1.00[ASN][1000 genomes]
rs3741001	1.00[ASN][1000 genomes]
rs3741002	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3741003	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3781806	1.00[ASN][1000 genomes]
rs3781813	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824953	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56009909	1.00[ASN][1000 genomes]
rs58228993	1.00[ASN][1000 genomes]
rs58354189	1.00[ASN][1000 genomes]
rs66833360	1.00[ASN][1000 genomes]
rs66872826	1.00[ASN][1000 genomes]
rs7107941	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7108053	0.85[JPT][hapmap]
rs7122296	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122406	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129977	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72953614	1.00[ASN][1000 genomes]
rs7932664	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948566	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948764	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86136800-86170200	Weak transcription	Fetal Heart	heart
2	chr11:86138600-86167400	Weak transcription	Fetal Lung	lung
3	chr11:86140800-86155800	Weak transcription	Psoas Muscle	Psoas
4	chr11:86142000-86167400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:86142600-86155000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:86142600-86156000	Weak transcription	Spleen	Spleen
7	chr11:86142800-86157600	Weak transcription	Gastric	stomach
8	chr11:86145400-86167400	Weak transcription	Pancreas	Pancrea
9	chr11:86147200-86153800	Weak transcription	Lung	lung
10	chr11:86148200-86154600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:86149200-86154400	Weak transcription	Fetal Intestine Large	intestine
12	chr11:86149400-86154800	Enhancers	NHDF-Ad	bronchial
13	chr11:86149800-86158600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:86150200-86156200	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:86150200-86158400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:86150200-86167400	Weak transcription	Stomach Mucosa	stomach
17	chr11:86150600-86155000	Strong transcription	Ovary	ovary
18	chr11:86150600-86159400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:86150800-86153800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:86150800-86154200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:86151000-86154000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:86151000-86154200	Enhancers	NHLF	lung
23	chr11:86151000-86155000	Strong transcription	Left Ventricle	heart
24	chr11:86151000-86159200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:86151200-86158600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:86151200-86159800	Strong transcription	Fetal Brain Female	brain
27	chr11:86151200-86159800	Strong transcription	Fetal Stomach	stomach
28	chr11:86151400-86153800	Weak transcription	Right Atrium	heart
29	chr11:86151400-86158400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:86151600-86154200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:86151800-86154800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:86151800-86167400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:86151800-86167400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:86152000-86153800	Enhancers	Osteobl	bone
35	chr11:86152000-86154800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:86152000-86155000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:86152000-86158600	Strong transcription	Brain Germinal Matrix	brain
38	chr11:86152200-86154600	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:86152200-86159400	Strong transcription	Adipose Nuclei	Adipose
40	chr11:86152400-86153800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:86152400-86156400	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:86152400-86164000	Weak transcription	Brain Substantia Nigra	brain
43	chr11:86152400-86172200	Weak transcription	Fetal Brain Male	brain
44	chr11:86152600-86154000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:86152600-86154400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:86152600-86158600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:86152600-86159600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr11:86152800-86153800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr11:86153000-86161200	Weak transcription	Colonic Mucosa	Colon
50	chr11:86153200-86154600	Enhancers	Hela-S3	cervix

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