Variant report

Variant	rs72799764
Chromosome Location	chr2:33580319-33580320
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11895736	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12105119	1.00[ASN][1000 genomes]
rs12105747	1.00[ASN][1000 genomes]
rs12105856	1.00[ASN][1000 genomes]
rs17012864	0.86[AMR][1000 genomes]
rs17644939	1.00[ASN][1000 genomes]
rs1869451	1.00[ASN][1000 genomes]
rs3769553	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55870451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56412670	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33540800-33580800	Weak transcription	Placenta	Placenta
3	chr2:33547800-33581000	Weak transcription	Fetal Lung	lung
4	chr2:33548200-33588400	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:33549000-33588800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:33558400-33592200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:33564000-33582200	Weak transcription	Esophagus	oesophagus
8	chr2:33564200-33591600	Weak transcription	Psoas Muscle	Psoas
9	chr2:33565600-33580800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:33565800-33590400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:33565800-33590400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:33566800-33581000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:33568400-33580600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:33570400-33580800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:33570600-33587400	Weak transcription	Fetal Heart	heart
16	chr2:33570800-33588400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:33571000-33590600	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:33571600-33591600	Weak transcription	Brain Substantia Nigra	brain
19	chr2:33572400-33581000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:33572400-33582600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:33574800-33581000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr2:33575000-33581000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:33575200-33580800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:33576600-33582600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:33577000-33580800	Weak transcription	HSMMtube	muscle
26	chr2:33578000-33581000	Weak transcription	A549	lung
27	chr2:33578600-33580800	Weak transcription	Aorta	Aorta
28	chr2:33578600-33580800	Weak transcription	Fetal Stomach	stomach
29	chr2:33578600-33581000	Weak transcription	Left Ventricle	heart
30	chr2:33578800-33580600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:33578800-33612200	Weak transcription	Fetal Kidney	kidney
32	chr2:33579400-33582800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:33579600-33580600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:33579600-33580800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:33579600-33581200	Enhancers	NHDF-Ad	bronchial
36	chr2:33579800-33580800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:33579800-33581400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:33579800-33581400	Strong transcription	Ovary	ovary
39	chr2:33579800-33581600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:33580000-33580400	Strong transcription	NHLF	lung
41	chr2:33580000-33580600	Strong transcription	NH-A	brain
42	chr2:33580000-33581000	Strong transcription	Liver	Liver
43	chr2:33580000-33581400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr2:33580000-33581400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:33580200-33581000	Genic enhancers	Osteobl	bone
46	chr2:33580200-33581400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:33580200-33581400	ZNF genes & repeats	Fetal Muscle Leg	muscle
48	chr2:33580200-33581400	ZNF genes & repeats	Dnd41	blood
49	chr2:33580200-33581400	ZNF genes & repeats	HUVEC	blood vessel

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