Variant report

Variant	rs16830236
Chromosome Location	chr2:152423725-152423726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152420294..152421848-chr2:152423349..152426128,2	K562	blood:
2	chr2:152414320..152417036-chr2:152422973..152425873,2	K562	blood:
3	chr2:152420725..152422914-chr2:152422923..152425843,3	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12612539	1.00[EUR][1000 genomes]
rs12612655	1.00[EUR][1000 genomes]
rs12619249	1.00[EUR][1000 genomes]
rs12621850	1.00[EUR][1000 genomes]
rs12623646	1.00[EUR][1000 genomes]
rs13413290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16830087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16830088	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16830140	1.00[EUR][1000 genomes]
rs16830170	1.00[ASW][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16830173	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16830174	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16830189	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16830216	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3213817	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35967764	1.00[EUR][1000 genomes]
rs41525550	0.82[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6730990	1.00[EUR][1000 genomes]
rs73004051	1.00[EUR][1000 genomes]
rs73004053	1.00[EUR][1000 genomes]
rs7569133	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3693428	chr2:152320932-152434896	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	esv1793381	chr2:152370040-152463631	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv10198	chr2:152370068-152463644	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv2974	chr2:152401495-152499455	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv932914	chr2:152408090-152425360	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 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	chr2:152360800-152424400	Weak transcription	Brain Anterior Caudate	brain
2	chr2:152383200-152424000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr2:152385800-152426800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:152406000-152425800	Weak transcription	Aorta	Aorta
5	chr2:152409400-152437000	Weak transcription	Psoas Muscle	Psoas
6	chr2:152416200-152427400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr2:152416200-152434400	Strong transcription	Fetal Muscle Leg	muscle
8	chr2:152417200-152427200	Strong transcription	HSMMtube	muscle
9	chr2:152418400-152424000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:152422600-152427200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:152423000-152425800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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