Variant report

Variant	rs12701630
Chromosome Location	chr7:38463984-38463985
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38443727..38445487-chr7:38463169..38464997,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12701628	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222261	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13222587	1.00[ASN][1000 genomes]
rs13224853	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228275	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13232982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239504	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13309204	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2392571	1.00[ASN][1000 genomes]
rs2392572	1.00[ASN][1000 genomes]
rs33999580	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34181423	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34181529	0.83[ASN][1000 genomes]
rs34357670	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34433569	0.83[ASN][1000 genomes]
rs34523382	0.83[ASN][1000 genomes]
rs34665148	0.83[ASN][1000 genomes]
rs34789395	0.83[ASN][1000 genomes]
rs34826441	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34927712	1.00[ASN][1000 genomes]
rs35065491	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35189743	0.86[EUR][1000 genomes]
rs35367242	0.83[ASN][1000 genomes]
rs35375449	0.83[ASN][1000 genomes]
rs35440398	0.83[ASN][1000 genomes]
rs35694535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35978695	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57486020	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66520224	0.83[ASN][1000 genomes]
rs6962512	0.83[ASN][1000 genomes]
rs71548611	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71548612	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71548613	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7795048	0.81[AFR][1000 genomes]
rs929629	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1025974	chr7:38227528-38503472	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv538819	chr7:38227528-38503472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv1020990	chr7:38257707-38503472	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv1019941	chr7:38319437-38472680	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv1031936	chr7:38319437-38503472	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription 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	31 gene(s)	inside rSNPs	diseases
10	nsv429745	chr7:38323485-38470561	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	nsv830965	chr7:38350614-38521047	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv830966	chr7:38393663-38602553	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv887964	chr7:38457144-38501065	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1825425	chr7:38457144-38507180	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38431600-38489000	Weak transcription	Brain Angular Gyrus	brain
2	chr7:38439000-38483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:38444000-38468600	Weak transcription	Fetal Stomach	stomach
4	chr7:38444800-38467600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:38455400-38467400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:38456200-38481400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:38457400-38479600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:38459000-38473400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:38459200-38470400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:38460600-38467400	Weak transcription	Aorta	Aorta
11	chr7:38460600-38468600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:38462600-38464800	Weak transcription	Fetal Brain Male	brain
13	chr7:38463200-38466200	Enhancers	Primary T cells from cord blood	blood
14	chr7:38463400-38467600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:38463400-38468400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:38463600-38464000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:38463600-38467800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr7:38463800-38465400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
19	chr7:38463800-38467400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:38463800-38467600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr7:38463800-38467800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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