Variant report

Variant	rs73352603
Chromosome Location	chr7:38473955-38473956
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:38473487-38473992	MCF-7	breast:	n/a	chr7:38473726-38473735 chr7:38473723-38473741
2	CTCF	chr7:38473594-38473997	K562	blood:	n/a	chr7:38473726-38473735 chr7:38473723-38473741
3	CTCF	chr7:38473353-38474122	A549	lung:	n/a	chr7:38473726-38473735 chr7:38473723-38473741

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38473424..38474293-chr7:38699841..38700536,2	MCF-7	breast:
2	chr7:38473622..38474218-chr7:38787900..38788567,2	MCF-7	breast:

Variant related genes	Relation type
AMPH	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11978903	1.00[AMR][1000 genomes]
rs17171344	0.96[AFR][1000 genomes]
rs17171348	0.93[AFR][1000 genomes]
rs28445255	1.00[AMR][1000 genomes]
rs28695975	1.00[AMR][1000 genomes]
rs28736823	1.00[AMR][1000 genomes]
rs34594861	1.00[AMR][1000 genomes]
rs56905382	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58000336	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58110874	0.89[AFR][1000 genomes]
rs59548685	1.00[AMR][1000 genomes]
rs60918146	0.93[AFR][1000 genomes]
rs6462843	0.93[AFR][1000 genomes]
rs6958539	1.00[AMR][1000 genomes]
rs73348814	1.00[AMR][1000 genomes]
rs73348817	1.00[AMR][1000 genomes]
rs73348823	1.00[AMR][1000 genomes]
rs73348834	1.00[AMR][1000 genomes]
rs73348845	1.00[AMR][1000 genomes]
rs73348855	1.00[AMR][1000 genomes]
rs73348860	1.00[AMR][1000 genomes]
rs73348864	1.00[AMR][1000 genomes]
rs73348869	1.00[AMR][1000 genomes]
rs73348871	1.00[AMR][1000 genomes]
rs73348876	1.00[AMR][1000 genomes]
rs73348897	1.00[AMR][1000 genomes]
rs73350792	1.00[AMR][1000 genomes]
rs73352622	0.96[AFR][1000 genomes]
rs73352635	0.96[AFR][1000 genomes]
rs73352664	0.89[AFR][1000 genomes]
rs73356685	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73358627	0.83[AFR][1000 genomes]
rs7784259	1.00[AMR][1000 genomes]
rs7811443	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
9	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
10	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
11	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
12	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:22 , 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	chr7:38456200-38481400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:38457400-38479600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:38467800-38495600	Weak transcription	Aorta	Aorta
6	chr7:38468200-38475000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:38468400-38480800	Weak transcription	Fetal Brain Female	brain
8	chr7:38468400-38492000	Weak transcription	Fetal Heart	heart
9	chr7:38469000-38477000	Weak transcription	Fetal Brain Male	brain
10	chr7:38469200-38475000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:38469200-38491600	Weak transcription	Fetal Stomach	stomach
12	chr7:38469600-38476800	Weak transcription	Brain Anterior Caudate	brain
13	chr7:38471200-38474000	Weak transcription	Fetal Intestine Large	intestine
14	chr7:38471200-38492200	Weak transcription	Fetal Lung	lung
15	chr7:38471800-38498200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:38472400-38474000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:38472600-38474200	Enhancers	Primary T cells from cord blood	blood
18	chr7:38472600-38474400	Enhancers	Fetal Thymus	thymus
19	chr7:38472800-38474000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:38473000-38477600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:38473400-38476000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:38473400-38476000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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