Variant report

Variant	rs12111975
Chromosome Location	chr7:39574894-39574895
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11973821	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11982120	0.80[ASN][1000 genomes]
rs11982805	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11983711	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11983780	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12111825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12112633	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12113030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12113190	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17713630	0.90[EUR][1000 genomes]
rs17713666	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17770427	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17770433	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2329450	0.80[ASN][1000 genomes]
rs2329452	0.80[ASN][1000 genomes]
rs60671668	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73373899	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73375606	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73375634	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv966782	chr7:39454992-39581886	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39568200-39576400	Enhancers	Fetal Intestine Large	intestine
2	chr7:39568400-39576400	Enhancers	Fetal Intestine Small	intestine
3	chr7:39569600-39579600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:39570200-39579400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:39570400-39577200	Weak transcription	Fetal Brain Male	brain
6	chr7:39570400-39579600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:39570600-39579400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:39570800-39579400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:39570800-39579400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:39570800-39579600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:39571200-39576200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:39573400-39575800	Enhancers	Duodenum Mucosa	Duodenum
13	chr7:39573400-39576800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:39574000-39576400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr7:39574200-39575600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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

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