Variant report

Variant	rs7202019
Chromosome Location	chr16:82188173-82188174
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82181355..82183363-chr16:82185760..82189196,3	MCF-7	breast:
2	chr16:82169199..82174282-chr16:82184479..82189945,7	MCF-7	breast:
3	chr16:82185992..82189074-chr16:82193243..82196142,4	MCF-7	breast:
4	chr16:82184407..82186885-chr16:82187436..82189068,2	K562	blood:
5	chr16:82187699..82189970-chr16:82194493..82196647,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261235	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10514531	0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10514533	0.94[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs1056629	0.83[CHB][hapmap];0.85[CHD][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1056654	0.83[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1056690	0.89[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11641178	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11642247	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11642251	0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11643324	0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11643724	0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11645604	0.93[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11645618	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11645924	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11646480	0.83[CHB][hapmap]
rs11649427	0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12445764	0.83[CHB][hapmap]
rs12446030	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12446104	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12447225	0.83[CHB][hapmap]
rs12448672	0.89[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12448785	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16956524	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16956527	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16956533	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16956540	0.85[YRI][hapmap]
rs16956547	0.83[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs16956550	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16956555	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16956556	0.89[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16956562	0.85[YRI][hapmap]
rs16956565	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16956572	0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16956576	0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.83[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2098750	0.85[YRI][hapmap]
rs2303268	0.89[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2911428	0.94[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs3751863	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3751865	0.89[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3794704	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794705	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3829542	0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4888206	0.94[ASN][1000 genomes]
rs4888207	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4889475	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4889478	0.94[ASN][1000 genomes]
rs4889480	0.95[ASN][1000 genomes]
rs61366082	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6564986	0.85[YRI][hapmap]
rs6564988	0.85[YRI][hapmap]
rs7195527	0.81[YRI][hapmap]
rs73591443	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs8056380	0.85[YRI][hapmap]
rs8057418	0.85[YRI][hapmap]
rs9925283	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv457578	chr16:82136566-82197883	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv573366	chr16:82136566-82197883	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv457579	chr16:82150293-82216622	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv573368	chr16:82150293-82216622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv907013	chr16:82154619-82196808	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv525467	chr16:82154619-82223485	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1061064	chr16:82165314-82213799	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1056381	chr16:82165314-82215388	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1062687	chr16:82165516-82213799	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv518129	chr16:82188173-82228076	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7202019	MPHOSPH6	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82157000-82191200	Weak transcription	Fetal Brain Male	brain
2	chr16:82168000-82195400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:82168400-82195600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr16:82168600-82191000	Weak transcription	HSMMtube	muscle
5	chr16:82168600-82195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:82170800-82195800	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:82171200-82193400	Weak transcription	Ovary	ovary
8	chr16:82172800-82199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:82177000-82195200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr16:82177600-82194000	Weak transcription	Hela-S3	cervix
12	chr16:82179200-82196000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:82179400-82190000	Strong transcription	HMEC	breast
14	chr16:82179600-82188600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:82179800-82196200	Weak transcription	Fetal Heart	heart
16	chr16:82180400-82189800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr16:82180800-82195600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr16:82181000-82194000	Weak transcription	Pancreas	Pancrea
19	chr16:82181200-82193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:82181200-82193600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:82181200-82194000	Weak transcription	Aorta	Aorta
22	chr16:82181200-82194000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr16:82181200-82194000	Weak transcription	Gastric	stomach
24	chr16:82181200-82194200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr16:82181200-82195800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:82181200-82196600	Weak transcription	Small Intestine	intestine
27	chr16:82181600-82194000	Weak transcription	Right Ventricle	heart
28	chr16:82181600-82194600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr16:82181600-82195400	Weak transcription	GM12878-XiMat	blood
30	chr16:82181800-82193400	Weak transcription	Colonic Mucosa	Colon
31	chr16:82181800-82194200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr16:82182200-82193400	Weak transcription	Fetal Thymus	thymus
33	chr16:82182400-82190800	Weak transcription	NHDF-Ad	bronchial
34	chr16:82182400-82191000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr16:82182800-82189400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:82183000-82188600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:82183000-82193400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr16:82183000-82193400	Weak transcription	Fetal Muscle Leg	muscle
39	chr16:82183000-82193400	Weak transcription	Spleen	Spleen
40	chr16:82183000-82193400	Weak transcription	HUVEC	blood vessel
41	chr16:82183000-82193800	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:82183000-82194000	Weak transcription	Brain Angular Gyrus	brain
43	chr16:82183000-82194000	Weak transcription	Esophagus	oesophagus
44	chr16:82183000-82194000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr16:82183200-82190800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:82183200-82190800	Weak transcription	Adipose Nuclei	Adipose
47	chr16:82183200-82193200	Weak transcription	Brain Anterior Caudate	brain
48	chr16:82183200-82194000	Weak transcription	Brain Substantia Nigra	brain
49	chr16:82183600-82189000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr16:82183600-82189200	Weak transcription	Fetal Stomach	stomach

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