Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:117650558..117651087-chr12:118025216..118026112,2	K562	blood:
2	chr12:117674012..117674526-chr12:118025201..118025945,3	MCF-7	breast:
3	chr12:117674053..117674957-chr12:118025160..118025705,3	K562	blood:
4	chr12:117804232..117805770-chr12:118025194..118026446,7	MCF-7	breast:
5	chr12:117804517..117805451-chr12:118024901..118026439,8	MCF-7	breast:

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

rs_ID	r²[population]
rs10850849	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10850850	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11068550	0.92[EUR][1000 genomes]
rs11068553	0.92[EUR][1000 genomes]
rs11068554	0.81[ASN][1000 genomes]
rs11068557	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068558	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11068560	0.82[EUR][1000 genomes]
rs11068561	0.82[EUR][1000 genomes]
rs11068562	0.82[EUR][1000 genomes]
rs11068563	0.84[ASN][1000 genomes]
rs12231292	0.82[EUR][1000 genomes]
rs17618615	0.82[EUR][1000 genomes]
rs6490129	0.88[ASN][1000 genomes]
rs7132400	0.98[ASN][1000 genomes]
rs72487547	0.82[EUR][1000 genomes]
rs73211914	0.92[EUR][1000 genomes]
rs73211926	0.82[EUR][1000 genomes]
rs7956575	0.81[ASN][1000 genomes]
rs7970894	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118021800-118036800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:118022600-118025400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:118024800-118025400	Weak transcription	A549	lung
4	chr12:118025000-118025600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr12:118025000-118025600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:118025000-118025600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:118025200-118025400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:118025200-118025400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:118025200-118025600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:118025200-118025600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:118025200-118025800	Enhancers	Liver	Liver

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