Variant report

Variant	rs60560821
Chromosome Location	chr12:124414365-124414366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124402948..124405033-chr12:124413350..124415168,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11829426	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099459	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1343668	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1873224	1.00[EUR][1000 genomes]
rs55680811	1.00[EUR][1000 genomes]
rs55996758	1.00[EUR][1000 genomes]
rs56169314	1.00[EUR][1000 genomes]
rs57352016	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57531416	1.00[EUR][1000 genomes]
rs58157153	0.90[AMR][1000 genomes]
rs58498731	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58556542	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58788131	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59002473	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59035549	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60980349	1.00[EUR][1000 genomes]
rs61151021	1.00[EUR][1000 genomes]
rs61740383	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61749063	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7301547	1.00[EUR][1000 genomes]
rs73409428	1.00[EUR][1000 genomes]
rs7976904	1.00[EUR][1000 genomes]
rs939464	1.00[EUR][1000 genomes]
rs952631	1.00[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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong 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	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
4	nsv522321	chr12:124383950-124424636	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124393800-124418000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:124394200-124418400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:124400400-124417800	Weak transcription	Spleen	Spleen
4	chr12:124407400-124422000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:124408400-124418000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:124408800-124428000	Weak transcription	Right Atrium	heart
7	chr12:124409200-124414600	Weak transcription	Fetal Brain Female	brain
8	chr12:124409400-124419600	Weak transcription	Right Ventricle	heart
9	chr12:124409600-124426200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:124409800-124419400	Weak transcription	Brain Anterior Caudate	brain
11	chr12:124410000-124418600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:124410200-124418200	Weak transcription	Fetal Intestine Small	intestine
13	chr12:124410400-124420600	Weak transcription	Pancreas	Pancrea
14	chr12:124410800-124419200	Weak transcription	Brain Substantia Nigra	brain
15	chr12:124410800-124420600	Weak transcription	Brain Angular Gyrus	brain
16	chr12:124411200-124420600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:124411800-124416200	Strong transcription	Brain Germinal Matrix	brain
18	chr12:124412000-124420400	Enhancers	Fetal Thymus	thymus
19	chr12:124412400-124415000	Enhancers	Fetal Muscle Leg	muscle
20	chr12:124412400-124416200	Enhancers	Thymus	Thymus
21	chr12:124412800-124420400	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:124413000-124418800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:124413200-124418400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:124413600-124414800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:124413800-124414800	Enhancers	Fetal Muscle Trunk	muscle
26	chr12:124414000-124415000	Enhancers	HSMMtube	muscle
27	chr12:124414000-124418800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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