Variant report

Variant	rs1530811
Chromosome Location	chr5:40911597-40911598
allele	A/C
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	chr5:40911539-40911701	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
RNU7-161P	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10044717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10064232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10472348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10473225	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1070444	1.00[JPT][hapmap]
rs1070445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1097592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1097604	0.94[ASN][1000 genomes]
rs12109603	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12110232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs152374	1.00[JPT][hapmap]
rs154273	0.88[ASN][1000 genomes]
rs154274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs154276	1.00[JPT][hapmap]
rs154278	1.00[JPT][hapmap]
rs154282	1.00[JPT][hapmap]
rs154283	1.00[JPT][hapmap]
rs1631661	0.88[ASN][1000 genomes]
rs166282	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1697929	0.94[ASN][1000 genomes]
rs1697937	0.94[ASN][1000 genomes]
rs1833892	1.00[ASN][1000 genomes]
rs184436	0.94[ASN][1000 genomes]
rs187274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs192962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2262009	0.94[ASN][1000 genomes]
rs2455306	0.84[YRI][hapmap]
rs249443	0.88[ASN][1000 genomes]
rs249444	0.88[ASN][1000 genomes]
rs29737	1.00[JPT][hapmap]
rs29762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs29763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs29764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs323554	1.00[ASN][1000 genomes]
rs323556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs323560	0.94[ASN][1000 genomes]
rs323562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs39794	0.88[ASN][1000 genomes]
rs408238	1.00[ASN][1000 genomes]
rs418494	0.94[ASN][1000 genomes]
rs42515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4273640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs433730	0.94[ASN][1000 genomes]
rs442869	0.88[ASN][1000 genomes]
rs445367	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs455519	1.00[JPT][hapmap]
rs459491	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs459794	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs463675	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs463905	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs464045	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs466960	0.88[ASN][1000 genomes]
rs694217	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs704034	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7717507	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7735661	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs837102	1.00[JPT][hapmap]
rs837378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs837381	0.94[ASN][1000 genomes]
rs837382	0.94[ASN][1000 genomes]
rs837384	0.94[ASN][1000 genomes]
rs837385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs837389	0.94[ASN][1000 genomes]
rs9292791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9292792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr5:40905400-40915000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:40905600-40915000	Weak transcription	Gastric	stomach
3	chr5:40908800-40916000	Active TSS	Stomach Smooth Muscle	stomach
4	chr5:40909200-40913200	Active TSS	Fetal Lung	lung
5	chr5:40909200-40916800	Active TSS	Right Atrium	heart
6	chr5:40909400-40911800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:40909400-40912400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr5:40909400-40913600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr5:40909600-40915000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:40909600-40915000	Active TSS	Ovary	ovary
11	chr5:40909800-40915000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:40910000-40912000	Active TSS	Right Ventricle	heart
13	chr5:40910000-40915200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:40910200-40915000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:40910600-40915000	Weak transcription	Liver	Liver
16	chr5:40911200-40911800	Active TSS	Duodenum Mucosa	Duodenum
17	chr5:40911200-40911800	ZNF genes & repeats	Fetal Brain Male	brain
18	chr5:40911200-40911800	Enhancers	Fetal Heart	heart
19	chr5:40911400-40911800	Active TSS	Colon Smooth Muscle	Colon
20	chr5:40911400-40911800	Flanking Active TSS	Left Ventricle	heart
21	chr5:40911400-40911800	Active TSS	Rectal Smooth Muscle	rectum

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