Variant report

Variant	rs72855734
Chromosome Location	chr2:33404476-33404477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10048778	1.00[AMR][1000 genomes]
rs10172685	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10201412	1.00[AMR][1000 genomes]
rs10205851	1.00[AMR][1000 genomes]
rs12328471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13387581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13401618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13401875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13404181	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58911278	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6708543	1.00[EUR][1000 genomes]
rs72858006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72858011	0.80[AFR][1000 genomes];1.00[AMR][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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33375000-33408400	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:33392200-33411800	Weak transcription	Left Ventricle	heart
3	chr2:33392600-33405600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:33392800-33413600	Weak transcription	HUVEC	blood vessel
5	chr2:33393000-33405000	Weak transcription	Aorta	Aorta
6	chr2:33393200-33408400	Weak transcription	NH-A	brain
7	chr2:33393400-33405000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:33394000-33420600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:33394400-33406000	Weak transcription	Osteobl	bone
10	chr2:33394400-33408200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:33394400-33408400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:33394400-33410000	Weak transcription	NHLF	lung
13	chr2:33394400-33412000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:33394400-33415000	Weak transcription	NHDF-Ad	bronchial
15	chr2:33394800-33408200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:33394800-33408400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:33398600-33408400	Weak transcription	Ovary	ovary
18	chr2:33400400-33413600	Weak transcription	Liver	Liver
19	chr2:33400800-33405000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:33401600-33405200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:33402000-33408400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:33403400-33408400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:33403800-33418800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:33404000-33404800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:33404000-33405600	Weak transcription	Fetal Heart	heart
27	chr2:33404200-33408800	Weak transcription	Right Ventricle	heart
28	chr2:33404200-33413600	Weak transcription	Brain Hippocampus Middle	brain

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