Variant report

Variant	rs11224490
Chromosome Location	chr11:100730653-100730654
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	chr11:100659587..100661942-chr11:100730369..100732286,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10488786	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224492	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224493	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224494	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11224495	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12808052	0.95[ASN][1000 genomes]
rs517349	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs551860	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs561267	0.84[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs581773	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59410492	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs599651	1.00[ASN][1000 genomes]
rs61890806	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61890815	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890817	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890819	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890820	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890821	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890822	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890823	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs619043	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs619191	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs633021	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs646865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs660410	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs665424	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs675486	1.00[ASN][1000 genomes]
rs679012	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7115233	0.96[ASN][1000 genomes]
rs7342248	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73571624	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv468849	chr11:100713227-100733120	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv556129	chr11:100713227-100733120	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100703000-100731800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:100720200-100745000	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:100720600-100733400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:100721000-100730800	Weak transcription	Fetal Intestine Small	intestine
5	chr11:100721600-100733400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:100722200-100734000	Weak transcription	Fetal Stomach	stomach
7	chr11:100722600-100733800	Weak transcription	NHDF-Ad	bronchial
8	chr11:100722800-100746400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:100722800-100747200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:100723400-100731200	Weak transcription	Placenta	Placenta
11	chr11:100725800-100732200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:100726400-100730800	Weak transcription	Liver	Liver
13	chr11:100726400-100732600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:100726400-100738400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:100727000-100734000	Weak transcription	HSMM	muscle
16	chr11:100727200-100734000	Weak transcription	Osteobl	bone
17	chr11:100727400-100731000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:100727400-100731200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:100728400-100731200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:100728600-100731400	Weak transcription	A549	lung
21	chr11:100728600-100732000	Weak transcription	Small Intestine	intestine
22	chr11:100728600-100734000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:100728600-100734000	Weak transcription	NH-A	brain
24	chr11:100728800-100731200	Weak transcription	Stomach Mucosa	stomach
25	chr11:100728800-100734000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:100728800-100740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr11:100728800-100741000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:100729000-100730800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:100729000-100730800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:100729000-100731000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:100729000-100733400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:100729000-100733400	Weak transcription	HSMMtube	muscle
33	chr11:100729200-100731200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:100729200-100733800	Weak transcription	Fetal Heart	heart
35	chr11:100729600-100731400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:100729600-100731800	Weak transcription	Primary B cells from cord blood	blood
37	chr11:100729800-100732400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr11:100729800-100734000	Weak transcription	Psoas Muscle	Psoas
39	chr11:100730000-100732200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:100730000-100733600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:100730000-100733800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:100730200-100732000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr11:100730200-100733800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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