Variant report

Variant	rs73091365
Chromosome Location	chr7:21069941-21069942
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10239242	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10247494	0.88[EUR][1000 genomes]
rs2041580	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2893021	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4719634	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4719635	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4719636	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4719638	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6948566	0.82[AMR][1000 genomes];0.94[EUR][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	nsv1030726	chr7:20506095-21086719	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830920	chr7:21014535-21201580	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3478244	chr7:21044211-21417347	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3478245	chr7:21044211-21417347	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1020852	chr7:21060791-21375050	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv538799	chr7:21060791-21375050	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:21054400-21070000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:21063600-21072400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:21067400-21071200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:21067800-21071000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr7:21068200-21082800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:21068600-21071200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:21068600-21071600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:21069200-21070000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:21069200-21070200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:21069200-21071400	Enhancers	Brain Germinal Matrix	brain
11	chr7:21069200-21071800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:21069400-21070400	Bivalent Enhancer	Fetal Brain Male	brain
13	chr7:21069400-21072800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:21069400-21072800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:21069600-21070000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:21069600-21070000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr7:21069600-21070000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr7:21069600-21070200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:21069600-21070200	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:21069800-21070000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr7:21069800-21070000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr7:21069800-21070200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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