Variant report

Variant	rs6461531
Chromosome Location	chr7:21082674-21082675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10239242	0.84[AFR][1000 genomes]
rs10244220	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13236745	1.00[EUR][1000 genomes]
rs1990464	1.00[EUR][1000 genomes]
rs2192054	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2215674	0.93[AFR][1000 genomes]
rs2215681	1.00[EUR][1000 genomes]
rs2215682	1.00[EUR][1000 genomes]
rs2893021	0.84[AFR][1000 genomes]
rs3944038	1.00[EUR][1000 genomes]
rs4721970	1.00[EUR][1000 genomes]
rs4721971	1.00[EUR][1000 genomes]
rs4721973	1.00[EUR][1000 genomes]
rs6461533	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6971050	1.00[EUR][1000 genomes]
rs73276841	1.00[EUR][1000 genomes]
rs73279584	1.00[EUR][1000 genomes]
rs759017	1.00[EUR][1000 genomes]
rs7802038	1.00[EUR][1000 genomes]
rs7804011	1.00[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21068200-21082800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:21079200-21083000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:21079200-21084800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:21079400-21083200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:21079800-21085400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:21079800-21085400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:21081400-21082800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:21081400-21083400	Bivalent Enhancer	Brain Germinal Matrix	brain
9	chr7:21081800-21083200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:21081800-21083400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:21081800-21084000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:21081800-21094200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:21082000-21083400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:21082000-21084400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:21082000-21084400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:21082000-21084600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:21082200-21084400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:21082400-21083200	Bivalent Enhancer	Fetal Brain Female	brain
19	chr7:21082600-21083000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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