Variant report

Variant	rs3213738
Chromosome Location	chr2:188247648-188247649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188246636..188248522-chr2:188250885..188252795,2	K562	blood:
2	chr2:188247022..188249051-chr2:188251094..188252795,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11887657	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432953	0.92[EUR][1000 genomes]
rs1398062	0.90[EUR][1000 genomes]
rs17366895	0.90[EUR][1000 genomes]
rs3771070	0.93[ASN][1000 genomes]
rs3771071	0.93[ASN][1000 genomes]
rs3771072	0.93[ASN][1000 genomes]
rs3771077	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771083	0.90[EUR][1000 genomes]
rs3771088	0.87[EUR][1000 genomes]
rs3771095	0.90[EUR][1000 genomes]
rs3815524	0.90[EUR][1000 genomes]
rs4482438	0.90[EUR][1000 genomes]
rs58059768	0.90[EUR][1000 genomes]
rs67285489	0.90[EUR][1000 genomes]
rs6729250	0.90[EUR][1000 genomes]
rs6731106	0.93[ASN][1000 genomes]
rs6753578	0.90[EUR][1000 genomes]
rs6760862	0.93[ASN][1000 genomes]
rs67937232	0.87[EUR][1000 genomes]
rs67965661	0.90[EUR][1000 genomes]
rs72898679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72898690	0.88[EUR][1000 genomes]
rs72900656	0.90[EUR][1000 genomes]
rs72900687	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72902452	0.90[EUR][1000 genomes]
rs72902489	0.87[EUR][1000 genomes]
rs73981578	0.93[ASN][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	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv834487	chr2:188182556-188353363	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	2 gene(s)	inside rSNPs	diseases
6	nsv875557	chr2:188219052-188370232	Flanking Active TSS Weak transcription Enhancers Strong transcription 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	4 gene(s)	inside rSNPs	diseases
7	nsv875558	chr2:188219052-188388311	Enhancers Strong transcription Weak transcription Flanking Active TSS 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	4 gene(s)	inside rSNPs	diseases
8	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:188208800-188250400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:188210800-188248000	Weak transcription	HSMMtube	muscle
4	chr2:188214600-188250800	Weak transcription	Fetal Lung	lung
5	chr2:188214600-188257800	Weak transcription	Ovary	ovary
6	chr2:188223000-188255200	Weak transcription	Fetal Stomach	stomach
7	chr2:188223800-188250800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:188223800-188257800	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:188225000-188251200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:188237200-188251000	Weak transcription	Psoas Muscle	Psoas
11	chr2:188238000-188248000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:188238600-188248200	Strong transcription	HUVEC	blood vessel
13	chr2:188240400-188257800	Weak transcription	Lung	lung
14	chr2:188244800-188248000	Weak transcription	HSMM	muscle
15	chr2:188245000-188257200	Weak transcription	Fetal Kidney	kidney
16	chr2:188245400-188251200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:188245600-188248000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:188246400-188248800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:188246400-188249000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:188246600-188248200	Weak transcription	Left Ventricle	heart
21	chr2:188246600-188250000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:188246600-188252000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:188246800-188248000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:188246800-188248600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:188247200-188248200	Genic enhancers	Adipose Nuclei	Adipose
26	chr2:188247200-188248600	Enhancers	Osteobl	bone
27	chr2:188247400-188252200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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