Variant report

Variant	rs4307243
Chromosome Location	chr7:38970726-38970727
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1229047	0.94[EUR][1000 genomes]
rs17171483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17171484	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17171485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17171489	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2392612	0.94[EUR][1000 genomes]
rs35054698	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4276581	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4376417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4507665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979541	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs859524	0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830967	chr7:38913837-39069253	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38967800-38970800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:38969200-38973800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:38969600-38972000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:38969600-38972000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:38969800-38972000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:38969800-38972000	Weak transcription	K562	blood
7	chr7:38969800-38972200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:38969800-38972200	Weak transcription	Fetal Brain Male	brain
9	chr7:38969800-38977400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:38969800-38977800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:38970000-38971600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:38970000-38972000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:38970000-38972200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:38970000-38974000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:38970200-38972000	Weak transcription	Liver	Liver
16	chr7:38970200-38977000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:38970200-38977000	Weak transcription	HUVEC	blood vessel
18	chr7:38970600-38970800	Enhancers	Aorta	Aorta

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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