Variant report

Variant	rs1446593
Chromosome Location	chr2:210199283-210199284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:210198810..210200359-chr2:210287858..210289386,45	MCF-7	breast:
2	chr2:210198604..210199864-chr2:210288126..210289099,23	MCF-7	breast:
3	chr2:210198908..210199771-chr2:210420683..210421740,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078018	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10182475	1.00[JPT][hapmap]
rs10185216	0.85[ASN][1000 genomes]
rs10210266	1.00[JPT][hapmap]
rs11678209	1.00[JPT][hapmap]
rs12613105	0.99[ASN][1000 genomes]
rs12613165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12614926	1.00[JPT][hapmap]
rs12614974	1.00[JPT][hapmap]
rs12619417	0.85[ASN][1000 genomes]
rs12619841	0.99[ASN][1000 genomes]
rs12622639	0.97[ASN][1000 genomes]
rs12623404	1.00[JPT][hapmap]
rs12623474	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13391766	1.00[JPT][hapmap]
rs1446594	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446596	1.00[JPT][hapmap]
rs17236116	1.00[JPT][hapmap]
rs17725929	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17726115	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2028893	1.00[JPT][hapmap]
rs2123701	1.00[JPT][hapmap]
rs35424736	0.88[ASN][1000 genomes]
rs57091157	0.96[ASN][1000 genomes]
rs57237067	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57340402	0.97[ASN][1000 genomes]
rs57477937	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58527022	0.97[ASN][1000 genomes]
rs59168245	0.99[ASN][1000 genomes]
rs59222491	0.99[ASN][1000 genomes]
rs60124019	0.99[ASN][1000 genomes]
rs61002714	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6435528	1.00[JPT][hapmap]
rs66484761	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66889373	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711968	1.00[ASN][1000 genomes]
rs6746759	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751612	1.00[JPT][hapmap]
rs6761283	1.00[JPT][hapmap]
rs67685639	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72492734	0.88[ASN][1000 genomes]
rs73056336	0.97[ASN][1000 genomes]
rs73056341	0.97[ASN][1000 genomes]
rs73056354	0.99[ASN][1000 genomes]
rs73056366	1.00[ASN][1000 genomes]
rs73060554	0.99[ASN][1000 genomes]
rs73060555	0.99[ASN][1000 genomes]
rs73060558	0.99[ASN][1000 genomes]
rs73060559	0.99[ASN][1000 genomes]
rs73060566	0.88[ASN][1000 genomes]
rs7563521	1.00[JPT][hapmap]
rs7568431	1.00[JPT][hapmap]
rs7578275	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7592166	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7592320	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7593140	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs993784	1.00[JPT][hapmap]

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	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv460059	chr2:210058383-210215272	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv584308	chr2:210058383-210215272	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006506	chr2:210063871-210212039	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv536134	chr2:210063871-210212039	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv875764	chr2:210195717-210240990	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210199000-210199400	Enhancers	Brain Angular Gyrus	brain
2	chr2:210199000-210199600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:210199000-210199600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:210199000-210199600	Active TSS	Brain Anterior Caudate	brain
5	chr2:210199200-210199400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:210199200-210199400	Enhancers	Brain Hippocampus Middle	brain
7	chr2:210199200-210199600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:210199200-210199600	Enhancers	Liver	Liver
9	chr2:210199200-210199600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:210199200-210199600	Enhancers	Psoas Muscle	Psoas
11	chr2:210199200-210200000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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