Variant report

Variant	rs73290485
Chromosome Location	chr7:12374217-12374218
allele	A/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	POLR2A	chr7:12373984-12377024	K562	blood:	n/a	n/a

Variant related genes	Relation type
VWDE	TF binding region

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs56885635	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57112920	1.00[AMR][1000 genomes]
rs57304050	1.00[AMR][1000 genomes]
rs57811574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57917895	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58060265	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58932362	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59243529	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59557526	1.00[AMR][1000 genomes]
rs59723417	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59729608	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61732210	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6947560	1.00[AMR][1000 genomes]
rs6973155	1.00[AMR][1000 genomes]
rs73290007	1.00[AMR][1000 genomes]
rs73290041	1.00[AMR][1000 genomes]
rs73290439	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290443	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290449	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290457	0.81[AFR][1000 genomes]
rs73290465	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290480	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290486	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292103	1.00[AMR][1000 genomes]
rs73292131	1.00[AMR][1000 genomes]
rs73292142	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292146	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292356	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292368	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292373	1.00[AFR][1000 genomes]
rs73292377	0.90[AFR][1000 genomes]
rs73292378	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292380	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292385	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292390	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294304	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294382	1.00[AMR][1000 genomes]
rs73294384	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294385	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294387	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294389	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294391	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294398	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294402	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296303	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296306	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296326	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296504	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296510	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296513	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296514	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296522	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296587	1.00[AMR][1000 genomes]
rs73296594	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298516	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298518	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298519	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298525	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300507	1.00[AMR][1000 genomes]
rs73300513	1.00[AMR][1000 genomes]
rs73300530	1.00[AMR][1000 genomes]
rs73300539	1.00[AMR][1000 genomes]
rs73301009	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv887629	chr7:12304555-12400837	ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019021	chr7:12310445-12375516	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv887630	chr7:12323757-12400837	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1029941	chr7:12351595-12444490	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv433030	chr7:12352210-12443042	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS 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
10	nsv1034475	chr7:12352210-12444490	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1029098	chr7:12354108-12443042	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv887631	chr7:12360805-12434771	Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv887632	chr7:12360805-12439672	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv464371	chr7:12371801-12434771	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv606223	chr7:12371801-12434771	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv887633	chr7:12371801-12439672	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12354400-12405000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:12363800-12392800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:12368200-12433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:12368800-12376600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:12370400-12376200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:12370400-12384800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:12370600-12379000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:12371800-12376200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:12372000-12375800	Weak transcription	K562	blood
10	chr7:12372000-12376200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:12372000-12376400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:12372000-12376600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:12372000-12376600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:12372000-12376600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:12372000-12379800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:12373400-12375800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:12374200-12374400	Enhancers	Gastric	stomach

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