Variant report

Variant	rs73424452
Chromosome Location	chr11:18642943-18642944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12790143	0.83[ASN][1000 genomes]
rs16935609	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121385	0.83[ASN][1000 genomes]
rs2658558	0.83[ASN][1000 genomes]
rs34242612	0.83[ASN][1000 genomes]
rs56811637	0.83[ASN][1000 genomes]
rs58804032	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58988307	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60928664	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61208217	0.83[ASN][1000 genomes]
rs61424905	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61752314	0.83[ASN][1000 genomes]
rs7106180	0.83[ASN][1000 genomes]
rs7110470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71486878	1.00[AMR][1000 genomes]
rs73422545	0.83[ASN][1000 genomes]
rs73422599	0.83[ASN][1000 genomes]
rs73422601	0.83[ASN][1000 genomes]
rs73424410	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73424413	0.83[ASN][1000 genomes]
rs73424436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424468	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424485	1.00[AFR][1000 genomes]
rs73424497	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7926511	0.83[ASN][1000 genomes]
rs7936497	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936520	1.00[EUR][1000 genomes]
rs7938645	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942526	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951729	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872872	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872873	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv516413	chr11:18628418-18643758	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18629000-18654400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:18630800-18654800	Weak transcription	Psoas Muscle	Psoas
3	chr11:18636800-18643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:18637000-18645400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:18637000-18655200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:18637400-18644400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:18637400-18654400	Weak transcription	Brain Angular Gyrus	brain
8	chr11:18637400-18654400	Weak transcription	Fetal Intestine Small	intestine
9	chr11:18637400-18654800	Weak transcription	Esophagus	oesophagus
10	chr11:18637400-18654800	Weak transcription	Lung	lung
11	chr11:18637400-18654800	Weak transcription	Pancreas	Pancrea
12	chr11:18637600-18645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:18637600-18650000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:18637600-18650600	Weak transcription	Gastric	stomach
15	chr11:18637600-18654000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:18637600-18654200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:18637600-18654200	Weak transcription	Hela-S3	cervix
18	chr11:18637600-18654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:18637600-18654400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:18637600-18654400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:18637600-18654800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:18637600-18654800	Weak transcription	Right Ventricle	heart
23	chr11:18637600-18654800	Weak transcription	Spleen	Spleen
24	chr11:18637800-18654800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:18637800-18654800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:18637800-18654800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:18638000-18650000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:18638000-18654400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:18638000-18654400	Weak transcription	Fetal Intestine Large	intestine
30	chr11:18638000-18654600	Weak transcription	Brain Substantia Nigra	brain
31	chr11:18638200-18654800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:18638400-18654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:18638400-18654400	Weak transcription	K562	blood
34	chr11:18638400-18654800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:18638800-18649800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:18639800-18643400	Weak transcription	Left Ventricle	heart
37	chr11:18639800-18644200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr11:18639800-18644800	Weak transcription	Primary B cells from cord blood	blood
39	chr11:18640200-18654600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr11:18640400-18645200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:18640400-18654200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:18640400-18654200	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:18640400-18654400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:18640400-18654400	Weak transcription	HepG2	liver
45	chr11:18640400-18654800	Weak transcription	Aorta	Aorta
46	chr11:18640600-18645000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr11:18640600-18648400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:18640600-18654200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:18640600-18654200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:18640600-18654400	Weak transcription	A549	lung

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