Variant report

Variant	rs833834
Chromosome Location	chr12:49362779-49362780
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49360559..49362798-chr12:49364953..49366917,2	MCF-7	breast:
2	chr12:49361720..49363328-chr12:49365510..49367783,2	K562	blood:
3	chr12:49348867..49353149-chr12:49362475..49369316,15	MCF-7	breast:
4	chr12:49347357..49351835-chr12:49360389..49366684,9	MCF-7	breast:
5	chr12:49323862..49325425-chr12:49362066..49363691,2	MCF-7	breast:
6	chr12:49361298..49363302-chr12:49453156..49455512,2	MCF-7	breast:
7	chr12:49359291..49360903-chr12:49360915..49363419,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272822	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000169884	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11168810	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12122	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12829682	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2694841	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41291977	0.80[EUR][1000 genomes]
rs708242	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71464944	0.93[EUR][1000 genomes]
rs7305811	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7967350	0.89[AFR][1000 genomes]
rs833823	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs833825	0.82[AFR][1000 genomes]
rs833829	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs833835	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs941193	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49351800-49365000	Weak transcription	Right Atrium	heart
2	chr12:49355400-49363000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:49360400-49363000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:49360800-49363000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:49361400-49363400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr12:49361600-49362800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr12:49361600-49363200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:49361800-49362800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr12:49361800-49363600	Enhancers	GM12878-XiMat	blood
10	chr12:49362000-49362800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:49362000-49363000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:49362000-49363000	Weak transcription	Pancreas	Pancrea
13	chr12:49362000-49363200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
14	chr12:49362000-49363400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
15	chr12:49362200-49362800	Weak transcription	HSMMtube	muscle
16	chr12:49362200-49363000	Weak transcription	HSMM	muscle
17	chr12:49362200-49363600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:49362200-49363800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr12:49362400-49363000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr12:49362400-49363200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr12:49362400-49363600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:49362600-49362800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr12:49362600-49363600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
24	chr12:49362600-49363800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:49362600-49364600	Enhancers	A549	lung

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