Variant report

Variant	rs72901686
Chromosome Location	chr2:188859915-188859916
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	chr2:188856527..188859144-chr2:188859794..188861420,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11673994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11674292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11679720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11685495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11687577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11691788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11692575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12151778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12185535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12185546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12185596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12185714	1.00[AFR][1000 genomes]
rs12989776	1.00[AMR][1000 genomes]
rs72895717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72895720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72895723	1.00[AMR][1000 genomes]
rs72895727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72895728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72895740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72895757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72897930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72897939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72899689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72901682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903855	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72903871	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72903876	1.00[AFR][1000 genomes]
rs72903884	1.00[AFR][1000 genomes]
rs72903890	1.00[AFR][1000 genomes]
rs72903892	1.00[AFR][1000 genomes]
rs72903902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911793	1.00[AFR][1000 genomes];1.00[AMR][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	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875597	chr2:188573244-188916290	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1011832	chr2:188631943-188896492	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv536087	chr2:188631943-188896492	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv584041	chr2:188644642-188928433	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv523293	chr2:188774681-188928433	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470503	chr2:188837548-188896397	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv584043	chr2:188837548-188896397	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv875600	chr2:188857787-188893936	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188850400-188860600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:188853200-188860800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:188853600-188861400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:188854800-188861200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:188855400-188860000	Enhancers	Primary T cells from cord blood	blood
6	chr2:188856000-188860200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:188856000-188861200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:188856400-188861200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:188857600-188860200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:188857600-188861400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:188857800-188861000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:188858200-188860000	Enhancers	HSMMtube	muscle
13	chr2:188858200-188860200	Enhancers	Fetal Muscle Leg	muscle
14	chr2:188858200-188860400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:188858200-188860800	Enhancers	Fetal Heart	heart
16	chr2:188858200-188861400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:188858400-188860000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:188858400-188860400	Enhancers	Brain Anterior Caudate	brain
19	chr2:188858400-188860600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:188858600-188860000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:188858600-188860000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr2:188858800-188860400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:188858800-188861000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr2:188858800-188864600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:188859000-188860400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:188859000-188861200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:188859200-188860000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:188859200-188860000	Enhancers	Brain Hippocampus Middle	brain
29	chr2:188859200-188860000	Enhancers	Fetal Brain Female	brain
30	chr2:188859200-188860200	Enhancers	Left Ventricle	heart
31	chr2:188859400-188860000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:188859400-188860200	Enhancers	Fetal Thymus	thymus
33	chr2:188859400-188860200	Enhancers	NHDF-Ad	bronchial
34	chr2:188859400-188860600	Enhancers	Brain Germinal Matrix	brain
35	chr2:188859600-188860000	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:188859600-188860400	Weak transcription	Lung	lung
37	chr2:188859800-188860200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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