Variant report

Variant	rs72804221
Chromosome Location	chr2:33706011-33706012
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56197194	1.00[EUR][1000 genomes]
rs56262410	1.00[EUR][1000 genomes]
rs72804223	1.00[EUR][1000 genomes]
rs72804226	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv873792	chr2:33682737-33715742	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1829750	chr2:33704194-33740571	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33702800-33707600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:33703000-33707400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:33703000-33707400	Weak transcription	HSMMtube	muscle
4	chr2:33703200-33707600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:33703200-33707600	Weak transcription	NHDF-Ad	bronchial
6	chr2:33703200-33708600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:33703200-33709200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:33703400-33706200	Enhancers	Brain Anterior Caudate	brain
9	chr2:33703400-33706200	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:33703600-33708800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:33703600-33711800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:33703600-33715600	Weak transcription	Spleen	Spleen
13	chr2:33704200-33706200	Enhancers	Brain Angular Gyrus	brain
14	chr2:33704600-33707800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:33704800-33717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:33705000-33706200	Enhancers	Brain Hippocampus Middle	brain
17	chr2:33705000-33706200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:33705000-33708600	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr2:33705000-33710800	Enhancers	Fetal Heart	heart
20	chr2:33705000-33714000	Weak transcription	Right Ventricle	heart
21	chr2:33705200-33709400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:33705600-33706200	Weak transcription	Left Ventricle	heart
23	chr2:33705600-33706200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
24	chr2:33705600-33707000	Enhancers	Brain Substantia Nigra	brain
25	chr2:33705600-33709600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:33705600-33710000	Weak transcription	Pancreas	Pancrea
27	chr2:33705800-33706200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:33705800-33707400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:33705800-33709000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:33705800-33709200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:33705800-33709600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:33706000-33706200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:33706000-33706400	Genic enhancers	Primary B cells from cord blood	blood
34	chr2:33706000-33706400	Enhancers	Placenta	Placenta
35	chr2:33706000-33707400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:33706000-33708600	Weak transcription	Psoas Muscle	Psoas
37	chr2:33706000-33709200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:33706000-33714400	Weak transcription	Right Atrium	heart

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