Variant report

Variant	rs7009482
Chromosome Location	chr8:61195053-61195054
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	FOXA2	chr8:61194162-61195232	HepG2	liver:	n/a	chr8:61194430-61194442
2	SIN3AK20	chr8:61193082-61195101	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
CA8	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10086200	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10086352	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10086449	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10089297	0.82[EUR][1000 genomes]
rs10093008	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10094224	0.81[EUR][1000 genomes]
rs10094326	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10094523	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10097537	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10097613	0.82[EUR][1000 genomes]
rs10098038	0.82[EUR][1000 genomes]
rs10101157	0.81[EUR][1000 genomes]
rs10105094	0.81[EUR][1000 genomes]
rs10105098	0.82[EUR][1000 genomes]
rs10105158	0.81[EUR][1000 genomes]
rs10109265	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109487	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112099	0.82[EUR][1000 genomes]
rs10112677	0.81[EUR][1000 genomes]
rs10435600	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957125	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774698	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11774872	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11778498	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11781514	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13266513	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13267008	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13269899	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13274525	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13280153	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13280906	0.82[EUR][1000 genomes]
rs13281067	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281126	0.82[EUR][1000 genomes]
rs13282489	0.81[EUR][1000 genomes]
rs1480340	0.80[EUR][1000 genomes]
rs1480341	0.82[EUR][1000 genomes]
rs28371059	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28376554	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28429093	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28481384	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28532174	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28643410	0.83[EUR][1000 genomes]
rs28759336	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35256935	0.82[EUR][1000 genomes]
rs35503542	0.82[EUR][1000 genomes]
rs35552143	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4351453	0.82[EUR][1000 genomes]
rs4527913	0.81[EUR][1000 genomes]
rs4584176	0.82[EUR][1000 genomes]
rs6471851	0.82[ASN][1000 genomes]
rs6471852	0.82[ASN][1000 genomes]
rs6471853	0.82[ASN][1000 genomes]
rs6471855	0.82[ASN][1000 genomes]
rs6471856	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471857	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471858	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471859	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6983247	0.81[EUR][1000 genomes]
rs6983830	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6987786	0.82[ASN][1000 genomes]
rs6988169	0.82[ASN][1000 genomes]
rs6990370	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6998745	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7002077	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7002369	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7003287	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7006734	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7007157	0.82[ASN][1000 genomes]
rs7009243	0.82[ASN][1000 genomes]
rs7463930	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7463939	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7464181	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7465560	0.82[EUR][1000 genomes]
rs7812953	0.80[ASN][1000 genomes]
rs7814280	0.82[ASN][1000 genomes]
rs7814473	0.82[ASN][1000 genomes]
rs7815042	0.80[EUR][1000 genomes]
rs7824986	0.80[EUR][1000 genomes]
rs7826329	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7832414	0.80[EUR][1000 genomes]
rs7832419	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7840279	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7841372	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841458	0.82[EUR][1000 genomes]
rs7841804	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7843385	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7845524	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9298028	0.82[EUR][1000 genomes]
rs9298029	0.82[EUR][1000 genomes]
rs9298031	0.82[EUR][1000 genomes]
rs9298032	0.81[EUR][1000 genomes]
rs9298033	0.82[EUR][1000 genomes]
rs9643367	0.82[ASN][1000 genomes]
rs9643368	0.82[ASN][1000 genomes]
rs9657070	0.81[EUR][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7009482	CA8	cis	lung	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61194000-61198600	Weak transcription	Gastric	stomach
2	chr8:61194400-61195200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:61194400-61195200	Enhancers	Liver	Liver
4	chr8:61194400-61195200	Bivalent Enhancer	Fetal Kidney	kidney
5	chr8:61194400-61195200	Enhancers	Stomach Mucosa	stomach
6	chr8:61194600-61195200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
7	chr8:61194600-61195200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:61194800-61195200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:61194800-61195200	Bivalent Enhancer	A549	lung
10	chr8:61194800-61198600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:61195000-61195200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
12	chr8:61195000-61195200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr8:61195000-61195400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr8:61195000-61195800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr8:61195000-61197800	Enhancers	K562	blood

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