Variant report

Variant	rs6974131
Chromosome Location	chr7:21225112-21225113
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1013309	1.00[AMR][1000 genomes]
rs1990464	1.00[AMR][1000 genomes]
rs2215681	1.00[AMR][1000 genomes]
rs2215682	1.00[AMR][1000 genomes]
rs3944038	1.00[AMR][1000 genomes]
rs4721970	1.00[AMR][1000 genomes]
rs4721971	1.00[AMR][1000 genomes]
rs4721973	1.00[AMR][1000 genomes]
rs4721985	1.00[AMR][1000 genomes]
rs6947299	1.00[AMR][1000 genomes]
rs6947670	1.00[AMR][1000 genomes]
rs6971050	1.00[AMR][1000 genomes]
rs759016	1.00[AMR][1000 genomes]
rs759017	1.00[AMR][1000 genomes]
rs917809	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1029455	chr7:21215293-21233752	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21223600-21225400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:21224000-21226000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:21224200-21226000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:21224200-21226400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:21224400-21225800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:21224400-21226200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:21224600-21225400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:21224600-21225800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:21224800-21225400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:21224800-21225400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:21224800-21225800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:21224800-21226200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:21224800-21233200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:21225000-21225400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:21225000-21225400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:21225000-21225400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr7:21225000-21225400	Active TSS	Brain Anterior Caudate	brain
18	chr7:21225000-21225400	Active TSS	Brain Germinal Matrix	brain

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

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