Variant report

Variant	rs6945190
Chromosome Location	chr7:12357020-12357021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12353391..12355072-chr7:12357011..12359494,3	K562	blood:
2	chr7:12249029..12251264-chr7:12355308..12358122,2	MCF-7	breast:
3	chr7:12351255..12355072-chr7:12355211..12359779,5	K562	blood:
4	chr7:12356830..12359604-chr7:12404989..12406571,2	K562	blood:

Variant related genes	Relation type
ENSG00000106460	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1011811	0.84[ASN][1000 genomes]
rs1011812	0.84[ASN][1000 genomes]
rs10231252	0.87[ASN][1000 genomes]
rs10235534	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10240630	0.84[ASN][1000 genomes]
rs10269851	0.84[ASN][1000 genomes]
rs10272105	0.99[ASN][1000 genomes]
rs10279958	0.99[ASN][1000 genomes]
rs1030031	0.94[ASN][1000 genomes]
rs1059002	0.84[ASN][1000 genomes]
rs1116972	0.98[ASN][1000 genomes]
rs1440030	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1440031	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1440032	0.82[ASN][1000 genomes]
rs1440033	0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1440036	0.81[ASN][1000 genomes]
rs1861310	0.84[ASN][1000 genomes]
rs2024439	0.84[ASN][1000 genomes]
rs2024440	0.84[ASN][1000 genomes]
rs2024441	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2098365	0.94[ASN][1000 genomes]
rs2110803	0.81[ASN][1000 genomes]
rs2160270	0.84[ASN][1000 genomes]
rs2192828	0.84[ASN][1000 genomes]
rs2192836	0.98[ASN][1000 genomes]
rs2192839	0.94[ASN][1000 genomes]
rs2287068	0.84[ASN][1000 genomes]
rs2356163	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2356166	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2356168	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2356170	0.84[ASN][1000 genomes]
rs3735180	0.96[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3815525	0.84[ASN][1000 genomes]
rs3815527	0.84[ASN][1000 genomes]
rs3815528	0.84[ASN][1000 genomes]
rs3815529	0.84[ASN][1000 genomes]
rs3815530	0.84[ASN][1000 genomes]
rs3815531	0.84[ASN][1000 genomes]
rs3815534	0.84[ASN][1000 genomes]
rs4721083	0.86[EUR][1000 genomes]
rs4721084	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721085	0.96[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs61651459	0.84[ASN][1000 genomes]
rs6460910	0.80[ASN][1000 genomes]
rs6460911	0.96[ASN][1000 genomes]
rs6460914	0.92[ASN][1000 genomes]
rs6460928	0.84[ASN][1000 genomes]
rs6460929	0.84[ASN][1000 genomes]
rs6460932	0.82[ASN][1000 genomes]
rs6943503	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6954265	0.84[ASN][1000 genomes]
rs6954555	0.84[ASN][1000 genomes]
rs6966667	0.87[AFR][1000 genomes]
rs6972134	0.81[ASN][1000 genomes]
rs6973401	0.84[ASN][1000 genomes]
rs717236	0.95[ASN][1000 genomes]
rs7780547	0.84[ASN][1000 genomes]
rs7790790	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7796249	0.84[ASN][1000 genomes]
rs7811925	0.98[ASN][1000 genomes]
rs918016	0.94[ASN][1000 genomes]
rs918019	0.83[AFR][1000 genomes];0.97[ASN][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	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	nsv1034059	chr7:12342549-12367818	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6945190	VWDE	cis	lung	GTEx
rs6945190	VWDE	cis	Skin Sun Exposed Lower leg	GTEx
rs6945190	VWDE	cis	Thyroid	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12338400-12359200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:12339600-12360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:12351000-12367600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:12352200-12360600	Weak transcription	K562	blood
5	chr7:12354400-12405000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:12354800-12364800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:12356600-12358000	Enhancers	Fetal Intestine Large	intestine
8	chr7:12356800-12357200	Enhancers	Fetal Intestine Small	intestine
9	chr7:12357000-12357800	Enhancers	Duodenum Mucosa	Duodenum

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