Variant report

Variant	rs7968697
Chromosome Location	chr12:66997270-66997271
allele	G/T
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:20)

rs_ID	r²[population]
rs10506490	0.80[EUR][1000 genomes]
rs10784558	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10878464	0.99[ASN][1000 genomes]
rs10878467	0.99[ASN][1000 genomes]
rs11176328	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2029693	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4477518	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4486703	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4913276	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581707	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581708	0.90[ASN][1000 genomes]
rs6650228	0.99[ASN][1000 genomes]
rs7131878	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7300749	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7953305	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953441	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968118	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974153	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7975376	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7978501	0.98[ASN][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3325978	chr12:66920993-67016708	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:66994800-66997400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr12:66994800-66997400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:66994800-66998000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:66995000-66998000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:66995400-66997400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:66995400-67000600	Weak transcription	Fetal Brain Male	brain
7	chr12:66996400-66998200	Enhancers	Fetal Kidney	kidney
8	chr12:66996600-66997600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:66996600-66998000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:66996600-67000000	Weak transcription	Fetal Brain Female	brain
11	chr12:66996600-67007600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:66996800-66997600	Enhancers	Fetal Intestine Small	intestine
13	chr12:66997000-66998000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:66997200-66997600	Enhancers	Pancreas	Pancrea
15	chr12:66997200-66998000	Enhancers	Gastric	stomach

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