Variant report

Variant	rs7192444
Chromosome Location	chr16:82180338-82180339
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82170213..82174323-chr16:82178396..82183619,5	MCF-7	breast:
2	chr16:82177951..82181955-chr16:82182501..82188169,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261235	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10514532	0.83[CEU][hapmap]
rs11641736	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11859599	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102917	0.83[CEU][hapmap]
rs12597171	0.83[CEU][hapmap]
rs12597534	0.83[CEU][hapmap]
rs2303262	0.95[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2303264	0.91[CEU][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs2911423	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2967326	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2967349	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967350	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967352	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2967355	1.00[CEU][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2967359	0.83[CEU][hapmap]
rs2967363	0.85[EUR][1000 genomes]
rs2967374	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4143216	0.81[CHB][hapmap]
rs4889479	0.90[EUR][1000 genomes]
rs6420435	0.95[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap]
rs6420436	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6420437	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6564982	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6564989	0.84[EUR][1000 genomes]
rs6564996	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7186761	0.81[ASN][1000 genomes]
rs7194734	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7200628	0.90[EUR][1000 genomes]
rs7202258	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7203990	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7205534	0.83[CEU][hapmap]
rs8051436	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv457580	chr16:82165183-82182104	Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv573369	chr16:82165183-82182104	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv573370	chr16:82165183-82185320	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7192444	MPHOSPH6	cis	Stomach	GTEx
rs7192444	MPHOSPH6	cis	Thyroid	GTEx
rs7192444	MPHOSPH6	cis	cerebellum	SCAN
rs7192444	MPHOSPH6	cis	Esophagus Muscularis	GTEx
rs7192444	VAT1L	cis	cerebellum	SCAN
rs7192444	ATMIN	cis	parietal	SCAN
rs7192444	MPHOSPH6	cis	parietal	SCAN
rs7192444	MPHOSPH6	cis	multi-tissue	Pritchard

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	chr16:82167600-82180600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:82168000-82181000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr16:82168000-82195400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr16:82168400-82180800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr16:82168400-82195600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr16:82168600-82180400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr16:82168600-82191000	Weak transcription	HSMMtube	muscle
9	chr16:82168600-82195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr16:82168800-82180600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr16:82168800-82180600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr16:82168800-82180800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:82168800-82182000	Weak transcription	NH-A	brain
14	chr16:82169200-82180600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr16:82170000-82180800	Weak transcription	Fetal Lung	lung
16	chr16:82170200-82180400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr16:82170600-82180400	Weak transcription	A549	lung
18	chr16:82170800-82180600	Weak transcription	Left Ventricle	heart
19	chr16:82170800-82180600	Weak transcription	Lung	lung
20	chr16:82170800-82195800	Weak transcription	Colon Smooth Muscle	Colon
21	chr16:82171000-82180400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr16:82171000-82180400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr16:82171000-82180600	Weak transcription	Colonic Mucosa	Colon
24	chr16:82171000-82180800	Weak transcription	Right Ventricle	heart
25	chr16:82171200-82185800	Weak transcription	Fetal Intestine Small	intestine
26	chr16:82171200-82193400	Weak transcription	Ovary	ovary
27	chr16:82171400-82180600	Weak transcription	Spleen	Spleen
28	chr16:82171600-82180600	Weak transcription	Osteobl	bone
29	chr16:82172000-82180600	Weak transcription	GM12878-XiMat	blood
30	chr16:82172200-82180400	Weak transcription	Fetal Kidney	kidney
31	chr16:82172600-82180400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:82172600-82180400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr16:82172600-82180400	Weak transcription	Thymus	Thymus
34	chr16:82172600-82180600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr16:82172600-82180600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr16:82172800-82180400	Weak transcription	HepG2	liver
37	chr16:82172800-82199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr16:82173000-82180400	Weak transcription	K562	blood
39	chr16:82173000-82180600	Weak transcription	Gastric	stomach
40	chr16:82173200-82180400	Weak transcription	Fetal Thymus	thymus
41	chr16:82173200-82180600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr16:82173200-82182400	Weak transcription	Fetal Intestine Large	intestine
43	chr16:82173400-82180400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr16:82173400-82180400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr16:82173400-82180400	Weak transcription	Placenta	Placenta
46	chr16:82173400-82180600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr16:82173400-82180600	Weak transcription	NHEK	skin
48	chr16:82173400-82180800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:82173400-82185400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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