Variant report

Variant	rs2068591
Chromosome Location	chr7:70856264-70856265
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70856131..70858873-chr7:70867703..70870975,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10216049	0.83[EUR][1000 genomes]
rs10245173	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10258157	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2960870	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73362017	0.83[EUR][1000 genomes]
rs917111	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70850400-70857200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:70850400-70860000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:70850600-70857800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:70850600-70859400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:70850600-70860400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:70850800-70862200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:70852000-70857000	Weak transcription	Aorta	Aorta
8	chr7:70852600-70857000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:70852800-70856600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:70853400-70885800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:70854000-70860600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:70854200-70856400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:70854800-70868400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:70855000-70860200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:70855400-70857000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:70855400-70858400	Weak transcription	Ovary	ovary
17	chr7:70855600-70858200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:70855800-70857000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:70855800-70858200	Weak transcription	Fetal Lung	lung
20	chr7:70856000-70862200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:70856200-70856400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:70856200-70862400	Weak transcription	Fetal Muscle Leg	muscle

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