Variant report

Variant	rs11224492
Chromosome Location	chr11:100734976-100734977
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	chr11:100732938..100736079-chr11:100738276..100741715,4	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10488786	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224490	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224491	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224493	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224494	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11224495	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12808052	0.95[ASN][1000 genomes]
rs517349	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs551860	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs561267	0.82[ASN][1000 genomes]
rs581773	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59410492	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs599651	1.00[ASN][1000 genomes]
rs61890806	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61890815	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890817	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890819	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890820	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890821	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890822	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890823	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs619043	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs619191	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs633021	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs646865	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs660410	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs665424	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs675486	1.00[ASN][1000 genomes]
rs679012	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7115233	0.96[ASN][1000 genomes]
rs7342248	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73571624	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100720200-100745000	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:100722800-100746400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:100722800-100747200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:100726400-100738400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:100728800-100740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:100728800-100741000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:100731400-100738600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:100731600-100738200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:100732000-100740600	Weak transcription	Fetal Intestine Large	intestine
10	chr11:100732400-100736400	Weak transcription	Primary B cells from cord blood	blood
11	chr11:100732600-100737200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:100732600-100737200	Weak transcription	NHEK	skin
13	chr11:100733400-100735400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:100733600-100735400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:100733800-100735000	Enhancers	Stomach Mucosa	stomach
16	chr11:100733800-100735400	Enhancers	Primary hematopoietic stem cells	blood
17	chr11:100733800-100746000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:100734200-100736200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:100734200-100736600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr11:100734200-100737200	Weak transcription	Placenta	Placenta
21	chr11:100734200-100748400	Weak transcription	Left Ventricle	heart
22	chr11:100734400-100740200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:100734400-100740200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:100734400-100747400	Weak transcription	Adipose Nuclei	Adipose
25	chr11:100734400-100747600	Weak transcription	Fetal Stomach	stomach
26	chr11:100734400-100747600	Weak transcription	Right Atrium	heart
27	chr11:100734600-100735000	Weak transcription	K562	blood
28	chr11:100734600-100735400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:100734600-100738800	Weak transcription	Fetal Lung	lung
30	chr11:100734600-100740600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:100734600-100741200	Weak transcription	Fetal Intestine Small	intestine
32	chr11:100734800-100736200	Weak transcription	Osteobl	bone
33	chr11:100734800-100736600	Weak transcription	Fetal Heart	heart
34	chr11:100734800-100736800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:100734800-100740200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:100734800-100743200	Weak transcription	HSMM	muscle

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