Variant report

Variant	rs73922721
Chromosome Location	chr2:32584771-32584772
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	chr2:32394761..32396480-chr2:32583676..32585697,2	K562	blood:
2	chr2:32582832..32585768-chr2:32608002..32610374,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58458536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59743723	1.00[AMR][1000 genomes]
rs59874166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922718	1.00[AMR][1000 genomes]
rs73922722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922724	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922727	1.00[AMR][1000 genomes]
rs73922729	1.00[AMR][1000 genomes]
rs73922730	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv2751888	chr2:32539236-33331549	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv516173	chr2:32541438-33329957	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS 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	51 gene(s)	inside rSNPs	diseases
10	esv2763243	chr2:32567339-33331778	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32582400-32585200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr2:32583600-32586800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:32583600-32586800	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:32583600-32587600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:32583600-32588000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:32583600-32588800	Weak transcription	Ovary	ovary
7	chr2:32583600-32589400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:32583600-32590400	Weak transcription	Left Ventricle	heart
9	chr2:32583600-32590600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:32583600-32592400	Weak transcription	Spleen	Spleen
11	chr2:32583600-32592800	Weak transcription	Lung	lung
12	chr2:32583600-32593200	Weak transcription	Pancreas	Pancrea
13	chr2:32583600-32594600	Weak transcription	Esophagus	oesophagus
14	chr2:32583600-32607200	Weak transcription	Placenta	Placenta
15	chr2:32583600-32623000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:32583600-32653200	Weak transcription	Gastric	stomach
17	chr2:32583800-32584800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:32583800-32584800	Enhancers	Brain Hippocampus Middle	brain
19	chr2:32583800-32585000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:32583800-32585200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:32583800-32585200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:32583800-32585200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:32583800-32585200	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:32583800-32585200	Enhancers	Fetal Kidney	kidney
25	chr2:32583800-32585400	Enhancers	Brain Germinal Matrix	brain
26	chr2:32583800-32585400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:32583800-32585800	Enhancers	Brain Angular Gyrus	brain
28	chr2:32583800-32585800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:32583800-32585800	Enhancers	Brain Substantia Nigra	brain
30	chr2:32583800-32585800	Enhancers	Colon Smooth Muscle	Colon
31	chr2:32583800-32585800	Enhancers	Fetal Intestine Small	intestine
32	chr2:32583800-32585800	Enhancers	Rectal Smooth Muscle	rectum
33	chr2:32583800-32585800	Enhancers	Stomach Mucosa	stomach
34	chr2:32583800-32589800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:32583800-32605600	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:32583800-32649000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:32584000-32584800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:32584000-32584800	Weak transcription	Small Intestine	intestine
39	chr2:32584000-32585000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:32584000-32585000	Enhancers	Primary hematopoietic stem cells	blood
41	chr2:32584000-32585000	Weak transcription	Fetal Stomach	stomach
42	chr2:32584000-32585000	Weak transcription	Right Ventricle	heart
43	chr2:32584000-32585000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:32584000-32585200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:32584000-32585200	Enhancers	Osteobl	bone
46	chr2:32584000-32585400	Enhancers	Fetal Intestine Large	intestine
47	chr2:32584000-32585400	Flanking Active TSS	GM12878-XiMat	blood
48	chr2:32584000-32585400	Genic enhancers	HSMM	muscle
49	chr2:32584000-32585400	Genic enhancers	NHEK	skin
50	chr2:32584000-32585600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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