Variant report

Variant	rs12934814
Chromosome Location	chr16:31239855-31239856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31239331..31241188-chr16:31284758..31286567,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10468372	0.96[AFR][1000 genomes]
rs10871455	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12595855	0.92[AFR][1000 genomes]
rs12920848	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1423934	0.89[AMR][1000 genomes]
rs2081224	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2098730	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3948508	0.89[AMR][1000 genomes]
rs41374952	0.89[AMR][1000 genomes]
rs41441649	0.89[AMR][1000 genomes]
rs4265814	0.81[AFR][1000 genomes]
rs4889541	0.89[AMR][1000 genomes]
rs4889637	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889638	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889641	1.00[AMR][1000 genomes]
rs4889642	0.89[AMR][1000 genomes]
rs4889643	0.89[AMR][1000 genomes]
rs6565221	0.89[AMR][1000 genomes]
rs7192718	0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7194882	1.00[MEX][hapmap]
rs8045402	1.00[MEX][hapmap]
rs8058958	1.00[MEX][hapmap]
rs8063978	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs889552	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs929867	0.89[AMR][1000 genomes]
rs9929801	1.00[MEX][hapmap]
rs9940968	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
6	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
7	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
8	nsv905745	chr16:31216517-31247924	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1066073	chr16:31219071-31278572	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31228400-31240200	Weak transcription	Right Atrium	heart
2	chr16:31228800-31240200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:31231000-31246800	Weak transcription	Psoas Muscle	Psoas
4	chr16:31235000-31240200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr16:31235600-31240600	Weak transcription	Fetal Intestine Small	intestine
6	chr16:31237600-31240600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:31237600-31241800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr16:31238000-31241000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:31238200-31240400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:31238200-31240800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr16:31238600-31240200	Weak transcription	HSMMtube	muscle
12	chr16:31238800-31240600	Weak transcription	Fetal Intestine Large	intestine
13	chr16:31238800-31240600	Weak transcription	Fetal Muscle Leg	muscle
14	chr16:31239000-31240400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr16:31239600-31240600	Enhancers	HSMM	muscle
16	chr16:31239600-31240800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr16:31239600-31241000	Enhancers	Left Ventricle	heart
18	chr16:31239600-31241000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr16:31239600-31241200	Enhancers	Ovary	ovary
20	chr16:31239600-31241200	Enhancers	Spleen	Spleen
21	chr16:31239600-31242800	Enhancers	K562	blood
22	chr16:31239800-31240400	Enhancers	Right Ventricle	heart

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