Variant report

Variant	rs58727919
Chromosome Location	chr11:100630748-100630749
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11224405	0.82[ASN][1000 genomes]
rs11824393	0.82[ASN][1000 genomes]
rs11824432	0.82[ASN][1000 genomes]
rs12284151	0.82[ASN][1000 genomes]
rs17095405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095409	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095426	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17095428	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17095429	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17095438	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17095439	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2088953	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407750	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3901516	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4087602	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4121392	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4337001	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4469852	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4517481	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753983	0.82[ASN][1000 genomes]
rs499241	0.88[ASN][1000 genomes]
rs507695	0.81[ASN][1000 genomes]
rs60708905	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890760	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890763	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61890764	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61890765	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61890766	0.88[ASN][1000 genomes]
rs61892334	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892355	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61910476	0.88[ASN][1000 genomes]
rs61910478	0.82[ASN][1000 genomes]
rs61910480	0.82[ASN][1000 genomes]
rs61910505	0.82[ASN][1000 genomes]
rs61910508	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6590818	0.82[ASN][1000 genomes]
rs7102634	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7105842	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7110872	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7112228	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7112366	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7116153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117515	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120712	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126015	0.82[ASN][1000 genomes]
rs7126324	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003836	0.82[ASN][1000 genomes]
rs73005729	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927197	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7942588	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7944598	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7945336	0.88[ASN][1000 genomes]
rs7947761	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv898327	chr11:100569021-100631075	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100612400-100630800	Weak transcription	Right Atrium	heart
2	chr11:100613000-100631600	Weak transcription	Ovary	ovary
3	chr11:100621000-100642400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:100621400-100631600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:100623400-100632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:100624400-100630800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:100624600-100630800	Weak transcription	Placenta	Placenta
8	chr11:100624600-100631600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:100624600-100631600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:100624600-100631600	Weak transcription	Adipose Nuclei	Adipose
11	chr11:100624600-100635000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:100624600-100655600	Weak transcription	Left Ventricle	heart
13	chr11:100624600-100655600	Weak transcription	Right Ventricle	heart
14	chr11:100624800-100634800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:100625000-100637600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:100625200-100632200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:100626000-100639600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:100626200-100631600	Weak transcription	Psoas Muscle	Psoas
19	chr11:100626400-100631400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:100627400-100632000	Weak transcription	HSMMtube	muscle
21	chr11:100627600-100632000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:100628200-100642800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:100628600-100630800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:100628600-100631600	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:100628600-100632000	Weak transcription	Brain Anterior Caudate	brain
26	chr11:100628600-100632600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:100628800-100631800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:100629000-100632200	Enhancers	Fetal Intestine Large	intestine
29	chr11:100629000-100632200	Enhancers	Fetal Intestine Small	intestine
30	chr11:100629200-100631000	Enhancers	Small Intestine	intestine
31	chr11:100629200-100632800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:100629200-100642800	Weak transcription	Liver	Liver
33	chr11:100629400-100630800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr11:100629400-100632200	Weak transcription	Fetal Lung	lung
35	chr11:100629600-100630800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr11:100629600-100633200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr11:100629800-100631000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr11:100629800-100631200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr11:100629800-100631800	Enhancers	Duodenum Mucosa	Duodenum
40	chr11:100630000-100630800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:100630000-100632800	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr11:100630200-100630800	Weak transcription	Brain Substantia Nigra	brain
43	chr11:100630200-100630800	Flanking Active TSS	Fetal Heart	heart
44	chr11:100630200-100631800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:100630400-100634200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:100630600-100631000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:100630600-100631000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr11:100630600-100631600	Weak transcription	Stomach Mucosa	stomach
49	chr11:100630600-100631800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:100630600-100632000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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