Variant report

Variant	rs12329197
Chromosome Location	chr2:127645411-127645412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127556385..127559250-chr2:127644550..127646479,2	K562	blood:
2	chr2:127643178..127645880-chr2:127648030..127650091,2	K562	blood:
3	chr2:127643258..127645447-chr2:127648554..127651485,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10084325	0.93[EUR][1000 genomes]
rs10180994	0.87[EUR][1000 genomes]
rs10194355	0.87[ASN][1000 genomes]
rs10203501	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10496658	0.97[EUR][1000 genomes]
rs13393833	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13401458	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13411697	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13411741	0.93[EUR][1000 genomes]
rs13418717	0.97[EUR][1000 genomes]
rs1397340	1.00[EUR][1000 genomes]
rs3795874	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[EUR][1000 genomes]
rs4452092	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4616428	0.81[ASN][1000 genomes]
rs4663053	0.85[EUR][1000 genomes]
rs4663054	0.85[EUR][1000 genomes]
rs57113328	0.84[EUR][1000 genomes]
rs58039373	0.84[EUR][1000 genomes]
rs7425345	0.85[EUR][1000 genomes]
rs7425723	0.84[ASN][1000 genomes]
rs7572403	0.97[EUR][1000 genomes]
rs951816	0.93[EUR][1000 genomes]
rs951817	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1004166	chr2:127634679-127672143	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv979341	chr2:127636237-127648526	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127644200-127646400	Enhancers	Fetal Brain Female	brain
2	chr2:127644600-127649000	Weak transcription	Pancreas	Pancrea
3	chr2:127644800-127646600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:127644800-127647000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:127645000-127646000	Enhancers	Fetal Brain Male	brain
6	chr2:127645400-127645800	Enhancers	Brain Germinal Matrix	brain
7	chr2:127645400-127646600	Enhancers	Fetal Muscle Trunk	muscle

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