Variant report

Variant	rs72923710
Chromosome Location	chr2:55835650-55835651
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	chr2:55820891..55824510-chr2:55834569..55837738,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11884148	0.83[AMR][1000 genomes]
rs11884255	0.83[AMR][1000 genomes]
rs11897251	0.83[AMR][1000 genomes]
rs56390609	0.83[AMR][1000 genomes]
rs57298935	1.00[AMR][1000 genomes]
rs57883523	0.83[AMR][1000 genomes]
rs58772635	0.83[AMR][1000 genomes]
rs59796313	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59822040	1.00[AMR][1000 genomes]
rs60097935	0.83[AMR][1000 genomes]
rs6729650	0.83[AMR][1000 genomes]
rs72917903	0.83[AMR][1000 genomes]
rs72917924	0.83[AMR][1000 genomes]
rs72917948	0.83[AMR][1000 genomes]
rs72917974	0.83[AMR][1000 genomes]
rs72917976	0.83[AMR][1000 genomes]
rs72918887	0.83[AMR][1000 genomes]
rs72919765	0.83[AMR][1000 genomes]
rs72919774	0.83[AMR][1000 genomes]
rs72919784	0.83[AMR][1000 genomes]
rs72920703	0.83[AMR][1000 genomes]
rs72920705	0.83[AMR][1000 genomes]
rs72921811	1.00[AMR][1000 genomes]
rs72921812	0.83[AMR][1000 genomes]
rs72923707	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923716	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930820	0.83[AMR][1000 genomes]
rs72930837	0.83[AMR][1000 genomes]
rs72930864	0.83[AMR][1000 genomes]
rs7565042	0.83[AMR][1000 genomes]
rs7578877	0.83[AMR][1000 genomes]
rs7581700	0.83[AMR][1000 genomes]
rs7602095	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55789800-55843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55790200-55842400	Weak transcription	Fetal Brain Male	brain
3	chr2:55790400-55836200	Weak transcription	Fetal Heart	heart
4	chr2:55796800-55842600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:55803000-55838800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:55824400-55837400	Weak transcription	Fetal Kidney	kidney
7	chr2:55826000-55835800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:55826000-55839200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:55826000-55841600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:55826200-55836000	Weak transcription	Ovary	ovary
11	chr2:55826200-55842600	Weak transcription	Right Ventricle	heart
12	chr2:55826200-55843000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:55828200-55843600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:55828400-55838000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:55829800-55836000	Weak transcription	Brain Angular Gyrus	brain
16	chr2:55829800-55838400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:55829800-55838400	Weak transcription	HMEC	breast
18	chr2:55829800-55838800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:55829800-55842800	Weak transcription	Colonic Mucosa	Colon
20	chr2:55830000-55838000	Weak transcription	Brain Germinal Matrix	brain
21	chr2:55830000-55838200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:55830000-55838600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:55830200-55837600	Weak transcription	NHEK	skin
24	chr2:55830200-55838000	Weak transcription	Adipose Nuclei	Adipose
25	chr2:55830200-55838200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:55830400-55836400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:55830400-55837400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:55830400-55837400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:55830400-55837400	Weak transcription	Fetal Lung	lung
30	chr2:55830400-55837400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:55830400-55837600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:55830400-55838000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:55830400-55838000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:55830400-55838000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:55830400-55838000	Weak transcription	Esophagus	oesophagus
36	chr2:55830400-55838000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:55830400-55838200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:55830400-55838200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:55830400-55838200	Weak transcription	Thymus	Thymus
40	chr2:55830400-55838400	Weak transcription	Brain Anterior Caudate	brain
41	chr2:55830400-55838400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:55830400-55838600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:55830400-55838800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:55830400-55838800	Weak transcription	Spleen	Spleen
45	chr2:55830400-55841000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:55830400-55842800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:55830400-55843600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:55830400-55843600	Weak transcription	Aorta	Aorta
49	chr2:55830600-55837600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:55830600-55838000	Weak transcription	HUVEC	blood vessel

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