Variant report

Variant	rs12699320
Chromosome Location	chr7:12238719-12238720
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12237104..12239270-chr7:12329420..12331412,2	K562	blood:
2	chr7:12237815..12240381-chr7:12248250..12250812,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10488193	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11980425	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1468800	0.91[ASN][1000 genomes]
rs16877361	0.82[JPT][hapmap]
rs17165706	0.85[JPT][hapmap]
rs17165736	0.91[ASN][1000 genomes]
rs17165737	0.91[ASN][1000 genomes]
rs17165744	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17165746	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17165750	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17595150	0.98[ASN][1000 genomes]
rs17595402	1.00[ASN][1000 genomes]
rs17605315	0.82[ASN][1000 genomes]
rs17665337	1.00[ASN][1000 genomes]
rs60495893	0.96[ASN][1000 genomes]
rs60699002	0.87[ASN][1000 genomes]
rs6978684	0.91[ASN][1000 genomes]
rs73284389	0.87[ASN][1000 genomes]
rs73299019	0.91[ASN][1000 genomes]
rs73301035	0.89[ASN][1000 genomes]
rs73677511	0.89[ASN][1000 genomes]
rs73677523	0.91[ASN][1000 genomes]
rs73677558	0.87[ASN][1000 genomes]
rs73678692	0.91[ASN][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	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1023608	chr7:12064114-12247520	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1021710	chr7:12164993-12251790	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12236800-12239800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:12237000-12239600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:12237000-12239800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:12237600-12238800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:12238200-12239400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:12238400-12240600	Enhancers	Hela-S3	cervix
7	chr7:12238600-12239000	Enhancers	A549	lung
8	chr7:12238600-12240000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:12238600-12240000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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