Variant report

Variant	rs11224473
Chromosome Location	chr11:100694050-100694051
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	chr11:100694050..100695606-chr11:100697206..100698838,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11224430	0.82[ASN][1000 genomes]
rs11224436	0.82[ASN][1000 genomes]
rs11224442	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11224443	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11224445	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224446	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224447	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11224457	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11224464	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224467	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224471	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224472	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12221887	0.82[ASN][1000 genomes]
rs12225108	0.82[ASN][1000 genomes]
rs12226782	0.82[ASN][1000 genomes]
rs17095481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17652307	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2897755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58232316	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59240226	0.83[ASN][1000 genomes]
rs60799929	0.83[ASN][1000 genomes]
rs61890769	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61890770	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61890783	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61890784	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61890786	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890788	1.00[ASN][1000 genomes]
rs61890789	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73575571	0.83[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100670000-100697400	Weak transcription	Placenta	Placenta
2	chr11:100680800-100696400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:100681200-100698000	Weak transcription	Stomach Mucosa	stomach
4	chr11:100681400-100701000	Weak transcription	HSMM	muscle
5	chr11:100686200-100702800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:100688000-100698600	Weak transcription	NH-A	brain
7	chr11:100688000-100704000	Weak transcription	Right Ventricle	heart
8	chr11:100689000-100698600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:100689200-100698200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:100690400-100696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:100690800-100697200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr11:100691800-100696800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:100691800-100696800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:100692200-100696200	Weak transcription	HMEC	breast
15	chr11:100692200-100698000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:100692600-100694400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:100692800-100694800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:100692800-100696400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:100692800-100698200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:100693200-100694200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:100693200-100695200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:100693200-100695600	Enhancers	Adipose Nuclei	Adipose
23	chr11:100693400-100694200	Enhancers	Fetal Heart	heart
24	chr11:100693400-100694200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr11:100693400-100694400	Enhancers	Psoas Muscle	Psoas
26	chr11:100693400-100694400	Enhancers	HSMMtube	muscle
27	chr11:100693400-100694600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:100693400-100694600	Bivalent Enhancer	Fetal Lung	lung
29	chr11:100693400-100695200	Enhancers	NHDF-Ad	bronchial
30	chr11:100693600-100694200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr11:100693600-100694200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:100693600-100694200	Enhancers	Liver	Liver
33	chr11:100693600-100694200	Enhancers	Brain Anterior Caudate	brain
34	chr11:100693600-100694200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:100693600-100694200	Enhancers	Left Ventricle	heart
36	chr11:100693600-100694200	Enhancers	Right Atrium	heart
37	chr11:100693600-100694400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:100693600-100694400	Enhancers	Stomach Smooth Muscle	stomach
39	chr11:100693600-100694600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:100693600-100694800	Enhancers	NHLF	lung
41	chr11:100693600-100695000	Enhancers	Fetal Muscle Leg	muscle
42	chr11:100693600-100695000	Enhancers	Ovary	ovary
43	chr11:100693600-100695400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr11:100693600-100697000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr11:100693600-100697000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr11:100693600-100697200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr11:100693600-100697200	Enhancers	Fetal Kidney	kidney
48	chr11:100693800-100694200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:100693800-100694600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:100693800-100695600	Enhancers	H1 Cell Line	embryonic stem cell

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