Variant report

Variant	rs11224447
Chromosome Location	chr11:100659839-100659840
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100659587..100661942-chr11:100730369..100732286,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11224430	0.94[ASN][1000 genomes]
rs11224436	0.94[ASN][1000 genomes]
rs11224442	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11224443	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11224445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224446	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11224457	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224464	0.87[ASN][1000 genomes]
rs11224467	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224471	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224472	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224473	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12221887	0.94[ASN][1000 genomes]
rs12223958	0.89[ASN][1000 genomes]
rs12225108	0.94[ASN][1000 genomes]
rs12226782	0.94[ASN][1000 genomes]
rs17095481	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17652307	0.96[EUR][1000 genomes]
rs2897755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58232316	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59240226	0.95[ASN][1000 genomes]
rs60799929	0.95[ASN][1000 genomes]
rs61890769	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890770	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890783	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890784	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890786	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61890788	0.87[ASN][1000 genomes]
rs61890789	0.87[ASN][1000 genomes]
rs7116546	0.82[YRI][hapmap];0.81[AFR][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	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100643200-100660000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:100645600-100679800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:100645800-100679600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:100649800-100661800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:100653200-100660000	Weak transcription	NHEK	skin
6	chr11:100653400-100660200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:100654400-100671200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:100656000-100661800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:100656400-100660000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:100656400-100660000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:100656400-100660000	Weak transcription	Left Ventricle	heart
12	chr11:100656400-100660200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:100656400-100660200	Weak transcription	Gastric	stomach
14	chr11:100656400-100660200	Weak transcription	HSMM	muscle
15	chr11:100656400-100661800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:100656600-100660000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:100656600-100660000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:100656600-100660000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:100656600-100660000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:100656600-100660000	Weak transcription	Right Atrium	heart
21	chr11:100656600-100660000	Weak transcription	K562	blood
22	chr11:100656600-100661200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:100656600-100662000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:100656600-100662800	Weak transcription	Right Ventricle	heart
25	chr11:100656600-100679600	Weak transcription	Fetal Lung	lung
26	chr11:100656800-100660000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:100656800-100660200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:100656800-100660400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:100656800-100660400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:100656800-100661800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:100656800-100668800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:100657000-100660200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:100657000-100661200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:100657000-100675600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:100658800-100661000	Enhancers	Liver	Liver
36	chr11:100659200-100660600	Enhancers	Fetal Heart	heart
37	chr11:100659400-100660400	Enhancers	Stomach Mucosa	stomach
38	chr11:100659600-100660000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:100659600-100660600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:100659600-100663400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr11:100659800-100660400	Enhancers	Colon Smooth Muscle	Colon
42	chr11:100659800-100663400	Enhancers	A549	lung

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