Variant report

Variant	rs7186112
Chromosome Location	chr16:71840073-71840074
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71838683..71840929-chr16:71878375..71880684,2	MCF-7	breast:
2	chr16:71829817..71832917-chr16:71838468..71842118,4	K562	blood:
3	chr16:71833932..71837191-chr16:71839975..71841834,3	K562	blood:
4	chr16:71838848..71841056-chr16:71860564..71862352,2	K562	blood:
5	chr16:71838481..71840566-chr16:71916985..71919291,2	MCF-7	breast:
6	chr16:71821041..71823920-chr16:71838306..71840822,3	MCF-7	breast:
7	chr16:71837284..71840265-chr16:71840475..71842690,5	K562	blood:

Variant related genes	Relation type
ENSG00000182149	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000102984	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1058750	1.00[ASN][1000 genomes]
rs10852502	1.00[ASN][1000 genomes]
rs10852503	1.00[ASN][1000 genomes]
rs11075894	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075898	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075901	0.83[EUR][1000 genomes]
rs11075904	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075905	0.93[EUR][1000 genomes]
rs11862723	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12923990	0.80[EUR][1000 genomes]
rs12929547	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1392484	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1423983	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032918	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052584	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052585	1.00[ASN][1000 genomes]
rs2133773	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247603	1.00[ASN][1000 genomes]
rs2334877	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2334880	1.00[ASN][1000 genomes]
rs4354946	1.00[ASN][1000 genomes]
rs4788444	0.80[EUR][1000 genomes]
rs4788548	1.00[ASN][1000 genomes]
rs4788550	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788553	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788557	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788559	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4788810	1.00[ASN][1000 genomes]
rs4788813	1.00[ASN][1000 genomes]
rs4788820	1.00[ASN][1000 genomes]
rs4788822	1.00[ASN][1000 genomes]
rs4788823	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788828	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788830	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499526	1.00[ASN][1000 genomes]
rs6499527	1.00[ASN][1000 genomes]
rs6499528	1.00[ASN][1000 genomes]
rs6499529	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499530	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499531	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499534	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499538	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499540	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187948	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188675	1.00[ASN][1000 genomes]
rs7190487	1.00[ASN][1000 genomes]
rs7193549	1.00[ASN][1000 genomes]
rs7195059	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7201712	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7202479	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204118	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7204608	1.00[ASN][1000 genomes]
rs7204967	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204992	1.00[ASN][1000 genomes]
rs7206470	0.83[ASN][1000 genomes]
rs7359478	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044144	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8051968	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052910	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053186	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053745	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055419	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8062188	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889568	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9302630	0.83[AMR][1000 genomes]
rs9635524	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979790	1.00[ASN][1000 genomes]
rs9888756	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9929840	0.95[EUR][1000 genomes]
rs9929985	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9930015	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9931074	1.00[ASN][1000 genomes]
rs9934301	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937511	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939458	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7186112	MARVELD3	cis	Skin Sun Exposed Lower leg	GTEx
rs7186112	PHLPP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:71816000-71840400	Weak transcription	Fetal Kidney	kidney
3	chr16:71823200-71840400	Weak transcription	HUVEC	blood vessel
4	chr16:71823200-71841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:71823400-71840200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:71823400-71840200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr16:71823400-71840400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr16:71823400-71840400	Weak transcription	Fetal Brain Male	brain
9	chr16:71823400-71840400	Weak transcription	NH-A	brain
10	chr16:71823400-71841000	Weak transcription	Colonic Mucosa	Colon
11	chr16:71823400-71841400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:71823400-71841400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr16:71823400-71841400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr16:71823400-71841600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr16:71823400-71841600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr16:71823400-71841600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:71823400-71841600	Weak transcription	Aorta	Aorta
18	chr16:71823400-71841800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:71823400-71841800	Weak transcription	Esophagus	oesophagus
20	chr16:71823400-71841800	Weak transcription	Pancreas	Pancrea
21	chr16:71823600-71840400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr16:71823800-71840800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr16:71826400-71840200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr16:71826600-71840400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:71826600-71840400	Weak transcription	Right Ventricle	heart
26	chr16:71827000-71840200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr16:71827000-71841000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr16:71827000-71841000	Weak transcription	Right Atrium	heart
29	chr16:71827000-71841800	Weak transcription	Spleen	Spleen
30	chr16:71827400-71841200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr16:71827600-71840200	Weak transcription	NHEK	skin
32	chr16:71830000-71840200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr16:71830000-71841400	Weak transcription	Thymus	Thymus
34	chr16:71830200-71841000	Weak transcription	Fetal Thymus	thymus
35	chr16:71830800-71840200	Weak transcription	Psoas Muscle	Psoas
36	chr16:71830800-71841200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr16:71831000-71841600	Weak transcription	Ovary	ovary
38	chr16:71831600-71840200	Strong transcription	Fetal Stomach	stomach
39	chr16:71832400-71841000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:71832400-71841600	Weak transcription	Gastric	stomach
41	chr16:71833000-71840400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr16:71833400-71840400	Weak transcription	HMEC	breast
43	chr16:71833600-71840200	Weak transcription	Fetal Brain Female	brain
44	chr16:71833600-71840400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr16:71833600-71840400	Weak transcription	NHDF-Ad	bronchial
46	chr16:71833800-71841800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:71835600-71840200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:71836000-71841200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr16:71836600-71841000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:71837000-71841600	Weak transcription	Left Ventricle	heart

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