Variant report

Variant	rs73424445
Chromosome Location	chr11:18640571-18640572
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	chr11:18639820..18641463-chr11:18645296..18647094,2	K562	blood:

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]
rs16935602	0.85[AMR][1000 genomes]
rs16935609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58838170	0.85[AMR][1000 genomes]
rs58988307	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61208217	0.83[ASN][1000 genomes]
rs61424905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61752314	0.83[ASN][1000 genomes]
rs7106180	0.83[ASN][1000 genomes]
rs7110125	0.85[AMR][1000 genomes]
rs7110470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424437	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424452	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424463	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424475	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926511	0.83[ASN][1000 genomes]
rs7936497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936520	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942526	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947669	0.93[AFR][1000 genomes]
rs7951729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18624800-18640800	Weak transcription	Right Atrium	heart
2	chr11:18629000-18654400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:18630800-18654800	Weak transcription	Psoas Muscle	Psoas
4	chr11:18636800-18643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:18637000-18645400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:18637000-18655200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:18637400-18644400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:18637400-18654400	Weak transcription	Brain Angular Gyrus	brain
9	chr11:18637400-18654400	Weak transcription	Fetal Intestine Small	intestine
10	chr11:18637400-18654800	Weak transcription	Esophagus	oesophagus
11	chr11:18637400-18654800	Weak transcription	Lung	lung
12	chr11:18637400-18654800	Weak transcription	Pancreas	Pancrea
13	chr11:18637600-18640800	Enhancers	Primary hematopoietic stem cells	blood
14	chr11:18637600-18640800	Weak transcription	Ovary	ovary
15	chr11:18637600-18641800	Weak transcription	Colonic Mucosa	Colon
16	chr11:18637600-18645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:18637600-18650000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:18637600-18650600	Weak transcription	Gastric	stomach
19	chr11:18637600-18654000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:18637600-18654200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:18637600-18654200	Weak transcription	Hela-S3	cervix
22	chr11:18637600-18654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:18637600-18654400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:18637600-18654400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:18637600-18654800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:18637600-18654800	Weak transcription	Right Ventricle	heart
27	chr11:18637600-18654800	Weak transcription	Spleen	Spleen
28	chr11:18637800-18640600	Weak transcription	Fetal Kidney	kidney
29	chr11:18637800-18642600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:18637800-18654800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:18637800-18654800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:18637800-18654800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:18638000-18650000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:18638000-18654400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:18638000-18654400	Weak transcription	Fetal Intestine Large	intestine
36	chr11:18638000-18654600	Weak transcription	Brain Substantia Nigra	brain
37	chr11:18638200-18654800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:18638400-18640600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:18638400-18640600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:18638400-18642200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr11:18638400-18654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:18638400-18654400	Weak transcription	K562	blood
43	chr11:18638400-18654800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:18638600-18641000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr11:18638800-18649800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:18639000-18640600	Enhancers	Thymus	Thymus
47	chr11:18639200-18640600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:18639200-18640600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr11:18639200-18640600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:18639400-18640600	Enhancers	Primary monocytes fromperipheralblood	blood

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