Variant report

Variant	rs1024727
Chromosome Location	chr7:21071400-21071401
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10230337	0.91[EUR][1000 genomes]
rs10241014	0.96[EUR][1000 genomes]
rs10248415	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10262607	0.96[EUR][1000 genomes]
rs11761249	0.96[EUR][1000 genomes]
rs12532874	0.96[EUR][1000 genomes]
rs12537929	0.96[EUR][1000 genomes]
rs12539026	0.96[EUR][1000 genomes]
rs13222046	0.95[EUR][1000 genomes]
rs13438320	0.94[EUR][1000 genomes]
rs17143831	0.96[EUR][1000 genomes]
rs17678624	0.96[EUR][1000 genomes]
rs1990465	0.96[EUR][1000 genomes]
rs1990466	0.95[EUR][1000 genomes]
rs56111049	0.96[EUR][1000 genomes]
rs6955142	0.95[EUR][1000 genomes]
rs7789102	0.93[EUR][1000 genomes]
rs9886061	0.92[EUR][1000 genomes]
rs9886119	0.96[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21063600-21072400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:21068200-21082800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:21068600-21071600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:21069200-21071400	Enhancers	Brain Germinal Matrix	brain
5	chr7:21069200-21071800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:21069400-21072800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:21069400-21072800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:21070000-21072200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:21070000-21072800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:21070400-21071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:21070400-21072200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:21070400-21072400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:21070400-21072400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:21070600-21071800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:21070800-21071400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:21071000-21072000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:21071000-21072600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:21071400-21072400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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