Variant report

Variant	rs59410492
Chromosome Location	chr11:100744253-100744254
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	chr11:100738487..100741101-chr11:100743408..100746316,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10488786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224490	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224491	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224492	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224493	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224494	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11224495	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808052	0.98[ASN][1000 genomes]
rs517349	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs551860	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs561267	0.82[ASN][1000 genomes]
rs581773	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs599651	0.96[ASN][1000 genomes]
rs61890806	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61890815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890819	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890820	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890821	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890822	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890823	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs619043	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs619191	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs633021	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs646865	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs660410	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs665424	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs675486	0.96[ASN][1000 genomes]
rs679012	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7106381	0.86[AFR][1000 genomes]
rs7115233	1.00[ASN][1000 genomes]
rs7125051	0.86[AFR][1000 genomes]
rs7342172	0.86[AFR][1000 genomes]
rs7342248	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7342285	0.86[AFR][1000 genomes]
rs73569787	0.86[AFR][1000 genomes]
rs73569790	0.86[AFR][1000 genomes]
rs73569794	0.82[AFR][1000 genomes]
rs73571603	0.86[AFR][1000 genomes]
rs73571607	0.91[AFR][1000 genomes]
rs73571620	0.86[AFR][1000 genomes]
rs73571624	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73577320	0.86[AFR][1000 genomes]
rs73577331	0.86[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	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:40 , 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	chr11:100733800-100746000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:100734200-100748400	Weak transcription	Left Ventricle	heart
6	chr11:100734400-100747400	Weak transcription	Adipose Nuclei	Adipose
7	chr11:100734400-100747600	Weak transcription	Fetal Stomach	stomach
8	chr11:100734400-100747600	Weak transcription	Right Atrium	heart
9	chr11:100737600-100745400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:100741200-100744400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:100741200-100744600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:100741200-100745000	Weak transcription	Fetal Heart	heart
13	chr11:100741200-100747400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:100741400-100744800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:100741400-100750200	Weak transcription	K562	blood
16	chr11:100741600-100744400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:100741600-100748200	Weak transcription	Fetal Intestine Small	intestine
18	chr11:100743000-100748200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr11:100743200-100744600	Enhancers	Stomach Mucosa	stomach
20	chr11:100743200-100745400	Enhancers	NHLF	lung
21	chr11:100743200-100746800	Weak transcription	Spleen	Spleen
22	chr11:100743200-100749600	Enhancers	HSMM	muscle
23	chr11:100743400-100744600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:100743400-100744600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr11:100743400-100744800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:100743400-100744800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:100743400-100745000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr11:100743400-100745200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:100743400-100745400	Enhancers	Brain Germinal Matrix	brain
30	chr11:100743400-100747400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:100743600-100744600	Enhancers	NH-A	brain
32	chr11:100743800-100744800	Enhancers	Osteobl	bone
33	chr11:100743800-100746000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr11:100744000-100744600	Enhancers	NHDF-Ad	bronchial
35	chr11:100744200-100744400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:100744200-100745000	Weak transcription	HSMMtube	muscle
37	chr11:100744200-100745200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:100744200-100746400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:100744200-100746400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr11:100744200-100747600	Weak transcription	Psoas Muscle	Psoas

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