Variant report

Variant	rs73110089
Chromosome Location	chr12:40902538-40902539
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	chr12:40902352..40904327-chr12:40904757..40907254,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17128172	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128301	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17521316	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56770752	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56778408	1.00[EUR][1000 genomes]
rs57721717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58104027	1.00[EUR][1000 genomes]
rs7134318	1.00[EUR][1000 genomes]
rs7135212	1.00[EUR][1000 genomes]
rs73100424	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100433	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73106627	1.00[EUR][1000 genomes]
rs73106651	1.00[EUR][1000 genomes]
rs73110078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73110086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73110087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73112010	1.00[EUR][1000 genomes]
rs73112021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73112024	1.00[EUR][1000 genomes]
rs73116213	1.00[EUR][1000 genomes]
rs73117999	1.00[EUR][1000 genomes]
rs73119906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9668092	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv3519672	chr12:40898422-40907859	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv983435	chr12:40898783-40903918	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3377041	chr12:40898929-40905079	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv9377	chr12:40898931-40905123	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3387261	chr12:40898980-40905120	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3519673	chr12:40898984-40905196	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3519675	chr12:40898984-40905196	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv512268	chr12:40899000-40905722	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3402193	chr12:40899025-40905131	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3447251	chr12:40899046-40905008	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3524253	chr12:40899064-40905070	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3524254	chr12:40899064-40905070	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3349674	chr12:40899126-40905088	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3446930	chr12:40899146-40905058	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3325479	chr12:40899796-40902880	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3417437	chr12:40900070-40907460	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3368262	chr12:40900194-40903219	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3390841	chr12:40900720-40903205	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40894800-40908600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40899200-40904600	Weak transcription	GM12878-XiMat	blood
3	chr12:40902200-40903000	Enhancers	Fetal Lung	lung

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